Family History Of Cancer Research Articles

Very Rare Case of Pulmonary Lepidic Adenocarcinoma at a Young Age Man

Introduction: Lung cancer remains one of the higher prevalence of cancer and leading cause of death in the world. Smoking and genetic factors are two important etiologies in lung cancer. Adenocarcinoma is the most common type of non-small cell lung carcinoma. Lepidic predominant adenocarcinoma is one type of adenocarcinoma that has a good prognosis. Case Illustration: A 24-year-old male came with chronic cough and chest pain. He had a history of smoking and no prior family history of cancer. Plain chest Xray and Thorax computed tomography (CT) showed pleural effusion and presence of lung mass with suggestion of bone and liver involvement, respectively. The cytology from pleural effusion and bronchial lavage initially found no malignancy cell. Later thoracostomy biopsy and pathology study suggested lepidic adenocarcinoma. Discussion: Lung cancer is still one of the leading causes of death in men. Even though rarely found in young male, patients with a history of smoking or genetic factor with clinical manifestation suggestive chronic respiratory condition with weight loss should be suspected of the diagnosis. Adenocarcinoma, as the most common non-small cell lung carcinoma, could be later divided into several subtypes. Lepidic adenocarcinoma is distinguished by the pathology finding of a large invasion focus of stromal, lymphatic, vascular, or pleural space. Considered one of the most favorable, lepidic predominant adenocarcinoma has a very high rate of 5 year survival when diagnosed early and responds well to lobe resection. Advanced state however has poor outcome due to limited choice of therapy. Promising trial of targeted chemotherapy have been reported and could improve outcome in the future. Conclusion: Lung cancer in young male is a rare disease but should be suspected in those with chronic cough, chest pain and weight loss. The history of smoking and family history are crucial for this suspicion. Lepidic predominant adenocarcinoma has a good prognosis when diagnosed early. Studies in the future could enhance overall survival in these patients.

Real-world genome profiling in Japanese patients with pancreatic ductal adenocarcinoma focusing on HRD implications.

Pancreatic ductal adenocarcinoma (PDAC) poses significant challenges due to its high mortality, making it a critical area of research. This retrospective observational study aimed to analyze real-world data from comprehensive genome profiling (CGP) of Japanese patients with PDAC, mainly focusing on differences in gene detection rates among panels and the implications for homologous recombination deficiency (HRD) status. This study enrolled 2568 patients with PDAC who had undergone CGP between June 2019 and December 2021 using data from the nationwide Center for Cancer Genomics and Advanced Therapeutics database. Two types of CGP assays (tissue and liquid biopsies) were compared and a higher detection rate of genetic abnormalities in tissue specimens was revealed. HRD-related gene alterations were detected in 23% of patients, with BRCA1/2 mutations accounting for 0.9% and 2.9% of patients, respectively. Treatment outcome analysis indicated that patients with BRCA1/2 mutations had a longer time to treatment discontinuation with FOLFIRINOX than gemcitabine plus nab-paclitaxel as first-line therapy (9.3 vs. 5.6 months, p = 0.028). However, no significant differences were observed in the treatment response among the other HRD-related genes. Logistic regression analysis identified younger age and family history of breast, prostate, and ovarian cancers as predictive factors for HRD-related gene alterations. Despite the lack of progression-free survival data and the inability to discriminate between germline and somatic mutations, this study provides valuable insights into the clinical implications of CGP in Japanese patients with PDAC. Further research is warranted to optimize panel selection and elucidate the efficacy of platinum-based therapies depending on the HRD status.

Epidemiological Profile of Oral Cancer Patients Attending at B.P. Koirala Memorial Cancer Hospital, Chitwan, Nepal

Background: Oral cancer is one of the most prevalent and leading causes of mortality in certain regions, like South-Central Asia. The incidence of oral cancer in Nepal is also increasing. Oral cancer is preventable and treatable if diagnosed in an early stage. The study conducted at B.P. Koirala Memorial Cancer Hospital (BPKMCH) in Bharatpur, Nepal, was aimed at assessing the epidemiological profile of oral cancer patients attending BPKMCH. Methods: A descriptive cross-sectional study design was used to assess the epidemiological profile of oral cancer, and 50 patients were included in this study during January to July 2023. A semi-structured interview schedule was developed, which has 3 parts, viz., i. socio-demographic variables, ii. Lifestyle-related factors and iii. Clinical profile of oral cancer, to obtain the information from the respondents. Results: The study findings revealed that out of 50 majorities of respondents (88%) were male. According to the religion, most of them (84%) were Hindu, and likewise, according to ethnicity, about half of them (40%) belong to Madeshi, followed by 30% Brahmin/Chhetri. Similarly, most of the respondents (90%) were married. Regarding the exposure to risk factors, half of the respondents (50%) had habits of smoking consumption, More than half (68%) had the habit of tobacco consumption, near to half (40%) had the habit of Gudka consumption, and 68% had the habit of alcohol consumption. None of the respondents had the habits of oral sex or a family history of oral cancer. Similarly, about one-third (30%) of respondents had stage IV, followed by 28% stage II, 26% stage I, and only a few (14%) stages in III disease; all the oral cancer was OSCC. Concerning the treatment modalities, 36% of respondents had surgery, near to one quarter (20%) received chemotherapy, 10% received radiation therapy, and 30% of respondents had surgery with adjuvant therapy. Conclusion: The study found that the majority of oral cancer patients attending BPKMCH were between the ages of 30 and 45 and were predominantly male. Smoking, tobacco, and Gudka consumption are the main risk factors for oral cancer. The risk assessment approach and screening program should be focused on preventing oral cancer.

Clinical and epidemiological profile of patients with ovarian cancer

The objective of this study was to describe the profile of patients with ovarian cancer from 2015 to 2019 in Montes Claros, Minas Gerais State, Brazil. This is a descriptive study with a quantitative approach using data from patients living in Montes Claros, Minas Gerais, Brazil, with a diagnosis of ovarian cancer in the hospital records of the José Alencar Gomes da Silva National Cancer Institute. 312 cases of ovarian cancer were identified in Montes Claros, Minas Gerais. Regarding sociodemographic variables, most women were between 35 and 59 years old (44.9%), 26 patients (29.8%) denied the use of tobacco or tobacco products, 64.3% of the patients were former consumers and 5 (5.9%) were active consumers. 195 patients (79.3%) had a positive family history of cancer, the combined use of tobacco and alcohol was recorded among 83.4 of the population, the detailed primary location of the neoplasm was in the ovary itself in 161 (51.7%) of the cases. Regarding the histological type of the neoplasms, squamous cell carcinoma was found in 303 records (97.4%) and in relation to the TNM staging, most referred to others (53.6%), followed by A4 (46.4%). The data indicate an advanced picture of the disease in this population and suggest that more effective health education and control measures should be implemented.

Abstract B100: Improving access to hereditary cancer genetic testing in diverse populations: Outcomes in over 33,000 patients tested by genetics and non-genetics providers in Kaiser Permanente Southern California

Abstract Kaiser Permanente Southern California is an integrated health care organization serving over 4.7 million members in 14 medical centers. KPSC members are 42% Hispanic/Latino, 28 % Non-Hispanic White, 11% Asian/Pacific Islander, 8% Black/African American, and 12% Other/Unk. To facilitate detection of hereditary cancer syndromes among patients with personal and/or family histories of breast, colorectal, ovarian, pancreas and other cancers, we offered a 48-gene hereditary cancer multigene-panel test designed to detect all the most common hereditary cancer conditions. Patients seen by genetic counselors or geneticists (Gen providers) receive pre-test genetic counseling and include those with a family history of cancer with or without personal history of cancer. Our mainstreaming program allows non-genetics (non-Gen) providers including medical and surgical oncologists, gastroenterologists, and other specialists to order the test at the point of care (based on NCCN criteria) on their patients with cancer without pre-test genetic counseling. Providers place the order in the EMR system and patients receive an email/text message with information about the test, potential results, links to educational videos and a Genetics phone number for questions. When results are ready patients receive an automatic email/text notifying them and providing a link to their test report. Those with a positive test result receive post-test genetic counseling. Patients with negative or uncertain significance (VUS) results receive a message with a link to their test report, information about their result and the option to schedule a visit with genetics. From April 2021 to May 2024, we completed 33,173 tests: 13,076 (39%) ordered by non-Gen and 20,097 (61%) by Gen providers. The results distribution was similar in both groups: pathogenic/likely pathogenic (PV/LPV): 15% for Gen orders, 12% for non-Gen; VUS: 28% Gen, 30% non-Gen, and negative: 56% Gen, 58% Non-Gen. The patients tested closely reflected the diversity of our population, except for under-representation of Hisp/Latino patients and over-representation of Non-Hisp Whites: 14,400 (42%); Hisp/Latino 9,863 (29%); Asian/PI 4,279 (13%); AA/Black 3,209 (9%); and Oth/Unk 2,415 (7%). Eliminating single MUTYH variants the top 5 genes with the highest number and percentage of PV/LPV results for each of the race/ethnicity categories were as follows: AA/Black: BRCA2=60, BRCA1=38, ATM=36, MUTYH=18; Asian/PI: BRCA2=101, ATM=40, BRCA1=37, PMS2=24; Hisp/Latino: BRCA2=250, BRCA1=171, ATM=127, CHEK2=125; CDKN2A=113; Non Hisp White: CHEK2=346; BRCA2=304; ATM=200, BRCA1=196, FH=100; Oth/Unk: BRCA2=50, BRCA1=41, CHEK2=40, PALB2=30, ATM=20. Our results represent one of the largest and most diverse patient cohorts completing hereditary cancer testing from a single institution. They indicate that mainstreaming hereditary cancer testing can improve access for patients from under-represented groups and suggest differences in the frequency of deleterious variants in different hereditary cancer genes across race/ethnic groups. Citation Format: Monica Alvarado, Trevor Hoffman, Reina Haque, Hilary Kershberg, John Goff. Improving access to hereditary cancer genetic testing in diverse populations: Outcomes in over 33,000 patients tested by genetics and non-genetics providers in Kaiser Permanente Southern California [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr B100.

Abstract B101: Knowledge, attitudes, and self-efficacy toward cancer genetic testing among Black women with and without breast cancer

Abstract Germline genetic testing for cancer risk offers opportunities for decision-making about screening and clinical risk management for individuals and their family members. Despite increasing availability of cancer genetic testing, Black individuals are still much less likely to receive or engage with testing compared to non-Hispanic white individuals. We sought to identify individual level factors influencing knowledge about and attitudes toward cancer genetic testing among Black women with and without breast cancer. Participants included 925 women from the Black Women’s Health Study who had previously provided a biospecimen for research and were invited to have their cancer genetic research findings confirmed via a CLIA-certified laboratory and learn their results as part of a randomized controlled trial. Prior to confirmation testing, all women completed a baseline questionnaire about personal and family history of cancer; prior genetic testing for hereditary cancer; and knowledge, attitudes, and confidence in one’s ability to use genetic information (genetics self-efficacy). We used linear regression to evaluate individual-level factors influencing cancer genetics knowledge, attitudes, and self-efficacy. Overall, mean knowledge score was 12.3 out of 16 (SD, 2.5); there were no differences in knowledge score between women who had a personal history of breast cancer and those who did not. While the majority of women answered most questions correctly, 20-30% of women were unable to correctly answer questions about validity of test results, clinical implications of a variant of uncertain significance, and legal protections against health insurance discrimination. Younger age, higher educational attainment, being married, and having had prior genetic testing were statistically significant predictors of higher total knowledge score. There were no differences in mean knowledge scores by first degree family history of breast cancer or personal history of breast or other cancer. Predictors of favorable attitudes and genetics self-efficacy included younger age, higher educational attainment, and being married. Women with a personal history of breast cancer had somewhat more favorable attitudes toward genetic testing compared to those with no prior history of breast cancer. In multivariable adjusted models, higher total knowledge was associated with more favorable attitudes and higher self-efficacy. In this cohort of highly educated Black women, overall cancer genetics knowledge was relatively high; however, evaluation of individual knowledge questions revealed opportunities for improvement in specific areas. Older women, those with lower educational attainment, and women who are not married or living as married may benefit from more targeted education about genetic cancer testing. Further, despite the role genetic testing currently plays in guiding cancer treatment, Black women who had breast cancer did not have higher knowledge scores than those without breast cancer and therefore may also benefit from targeted education. Citation Format: Kimberly A. Bertrand, Michelle Trevino-Talbot, Maggie Rudderman, Maureen Flynn, Howard J. Cabral, Julie R. Palmer, Catharine Wang. Knowledge, attitudes, and self-efficacy toward cancer genetic testing among Black women with and without breast cancer [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr B101.

Abstract A138: Decreasing disparities in inherited cancer syndrome identification through a systems approach, The At-Risk Cancer Genetic Syndrome Identification (ARCAGEN-ID) system

Abstract Three percent of cancers are due to inherited cancer-predisposing syndromes, the most common ones being Hereditary Breast and Ovarian cancer syndrome and Lynch syndrome. Surveillance and preventive measures among diagnosed individuals lead to early detection, prevention of future cancers, and appropriate treatment modalities ultimately resulting in lower cancer mortality. Thus, identifying these individuals through genetic testing is of most importance. While guidelines have been drafted to identify people who need to be ruled out based on personal and family history of cancer, less than 30% of qualifying individuals are currently tested and these numbers are much worse among underserved communities. Lack of awareness, largely due to guideline complexity, has been documented as a critical factor for the low testing rates while clinician’s unconscious bias contributes to disparities. The objective of this project was to increase the identification of individuals at risk, especially among the underserved groups. We hypothesized that this could be accomplished by establishing a mechanism of automatic identification of candidates leveraging the electronic health records (EHR), the ARCAGEN-ID (At-Risk Cancer Genetic Syndrome Identification) system. Methods: An inclusion logic was designed based on 218 rules that evaluate personal and family history of specific cancers and age at diagnosis, relevant to NCCN/ACMG guidelines for genetic testing. Structured data was pulled from discrete fields in the EHR. External data was accessed by enabling the standard interoperability exchange of information system. The system was applied to the wellness registry, a cohort of 1,357,337 patients with an active EHR in our healthcare system. Results: The ARCAGEN-ID system identified 57,628 individuals at-risk (4.25%). Of those, 45,646 (79.2%) had no evidence of prior genetic test, cancer genetics evaluation, or referral. A manual chart review of 559 cases showed an identification accuracy rate of 96.2%. The ARCAGEN-ID identified a lower proportion of self-reported African Americans, Hispanics and Medicaid insured patients than the overall wellness registry (likely reflecting less complete relevant information in the EHR). However, patients in those categories were significantly overrepresented among the ones who were not previously referred for genetic testing. Thus, ARCAGEN-ID significantly increased the identification of individuals from minority groups by 12.7 to 23% in each category. Regarding criteria for inclusion, individuals identified only through ARCAGEN-ID were more likely identified because of family history of cancer only, representing 80.69%. In conclusion, a fully automated system that leverages the EHR was able to multiply by 5 the number of individuals who need to be ruled out for an inherited cancer syndrome while addressing the bias against underserved communities seen under current routine care. Citation Format: Rosa Munoz Xicola, Vinit Singh, Thomas Rafter, Jing Liu, Quiana Brown, Nitu Kashyap, Xavier Llor. Decreasing disparities in inherited cancer syndrome identification through a systems approach, The At-Risk Cancer Genetic Syndrome Identification (ARCAGEN-ID) system [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr A138.

Abstract B090: Assessing the relationship between family history of cancer and self-perceived cancer risk among Black adults in the United States

Abstract Introduction: Cancer family history is a risk factor for multiple cancer types. Knowing and sharing cancer family history can help inform cancer screening and genetic testing which ultimately aids in cancer prevention and early detection. There is limited knowledge about how people with cancer family history appraise their own risk of developing cancer which may influence screening and preventive behaviors, particularly among marginalized populations like Black adults. The objective of this study was to conduct a community-engaged survey to assess the relationship between self-reported cancer family history and perceived risk of developing cancer among Black adults. Methods: Using community-based recruitment methods in partnership with national Black-led organizations we conducted an online survey on cancer family history in Black communities. Individuals could participate if they self-identified as Black or African-American, were 18 or older, resided in the US, and could complete a survey in English. In the survey, participants were asked if members of their immediate families had ever been diagnosed with cancer, and if so which family members. Participant responses were categorized into: No family history, 1 family member with cancer history, 2+ family members with cancer history. Participants without a personal history of cancer were asked “On a scale of 0 to 100, what do you think your chances are of getting cancer? (0 = no chance of getting cancer and 100 = you will definitely get cancer)”, and to rate their level of agreement with the following statement “I feel I will get cancer sometime during my life.” Chi-squared and Kruskal-Wallis tests were used to assess the relationship between the number of family members with cancer and self-perceived cancer risk. Results: Overall, 100 participants from 17 states responded to the survey. Among participants, 93% were women, 84% had a bachelor’s degree or higher, and 16% reported a personal history of cancer. In total, 20% (n=20) reported no cancer family history, 30% (n=30) reported 1 family member with cancer, and 50% (n=50) reported 2 or more relatives with cancer. The mean perceived chance of developing cancer was 41.3% (95% CI: 33.6, 49.0) among people with no family history of cancer, 29.0% (95% CI: 22.2%, 35.6%) among people with one relative with cancer, and 48.2% (95% CI: 42.1, 54.2) among people with multiple relatives with a cancer history (p=0.0002). In addition, 17.6% of people with no family history, 0% with 1 relative family history, and 16.7% with 2 or more relative cancer family history somewhat or strongly agreed to the statement , “I feel I will get cancer sometime during my life,” (p=0.001). Conclusion: In this community-partnered survey of a diverse Black US adults, there was an association between number of family members with a cancer history and self-perceived risk of developing cancer. Understanding the appraisal of perceived cancer risk by level of cancer family history in Black adults could help inform targeted cancer prevention and early detection interventions. Citation Format: Mya L. Roberson, Laura Crandon, Jordyn A. Brown, Jordan Speller, Monique Gary. Assessing the relationship between family history of cancer and self-perceived cancer risk among Black adults in the United States [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr B090.

Abstract B156: Exploring identity-specific stressors among Black women with a family history of cancer

Abstract Background: Compared to women of other racial/ethnic groups, Black women are more likely to be diagnosed with aggressive subtypes of breast cancer (including triple-negative breast cancer), diagnosed at younger ages, diagnosed at more advanced stages, and have higher mortality rates and poorer survival outcomes. Black women also experience higher rates of breast cancer recurrence, which further exacerbates the survival disparities. These disparities are influenced by a complex interplay of genetic, environmental, and social factors, including chronic stress and discrimination. Understanding identity-specific stressors will help identify potential risk factors impacting breast cancer outcomes among Black women.Objective: This study aims to identify common stressors among Black women aged 18 to 49 with a family history of cancer, exploring potential links to breast health risk. Methods: We conducted a grounded theory study, including qualitative interviews from Black women in the Augusta, Georgia, area (N=47) discussing life as a Black woman and sources of stress. Participants with a close family history of cancer (defined as having at least one first- or second-degree relative diagnosed with cancer) were selected for this analysis (n=22). We applied the Sort & Sift, Think & Shift method for analysis. Results: We identified three categories in response to the research question, including healthcare access barriers and medical invalidation (particularly in rural communities), intergenerational trauma, and Strong Black Woman persona (characterized by independence, emotional suppression, and a tendency to care for others while neglecting their own needs). Participants described these categories in reference to themselves and their female family members with cancer. Participants reported stress related to jobs and caregiving responsibilities, lack of adequate social support, lack of time and finances necessary for self-care, and racial discrimination in medical settings. Conclusion: The identified stressors highlight the complex interplay between familial cancer history and daily stress experiences among Black women. These findings suggest the need for targeted interventions to mitigate stress and potentially reduce breast cancer risk. Further research is warranted to explore these themes in relation to breast cancer outcomes. Citation Format: Samantha R. Jones, Debbynie Barsh, Kathleen McIntyre, Christy J.W. Ledford. Exploring identity-specific stressors among Black women with a family history of cancer [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr B156.

Abstract C158: Contribution of multi-organ cancer predisposition genes for gastric cancer risk of different histological subtypes

Abstract Approximately 10% of gastric cancer (GC) cases exhibit familial clustering, yet only 1-3% can be explained by known hereditary syndromes, being Hereditary Diffuse Gastric Cancer (HDGC) the most well-established disease predisposing for diffuse gastric cancer. Familial intestinal gastric cancer (FIGC) has been defined clinically, but it remains mostly genetically unexplained. Likewise, the heritability of mixed GC remains to be uncovered. We aimed to estimate the frequency of known cancer predisposition gene variants in GC cases with family history of cancer and/or early onset. We evaluated the contribution of pathogenic and likely pathogenic (P/LP) variants in well-established and multi-organ cancer predisposition genes for GC risk in a large multi-center study involving 750 GC patients, either by targeted sequencing or whole exome sequencing. We identified 45 patients (6%) with P/LP variants in ATM (17 cases), BRCA2 (10 cases), MLH1 (five cases), TP53 (three cases), BRCA1, PALB2, RAD51D and CHEK2 (two patients each), and RAD51C and PMS2 (one case each), all mutually exclusive. The P/LP variant prevalence was higher in intestinal (9.8%) than in diffuse (4.3%) or mixed GC (4.5%) (p-value=0.023), with no clear difference per mutated gene by histological subtypes. Only sixteen of the 45 variant carriers fulfilled the criteria for genetic testing of at least one cancer predisposition syndrome. Our findings indicate that multi- organ cancer predisposition genes should be included in gene panels used for investigating germline variants in GC patients, especially when there is family history of cancer but irrespective of histology subtype, as this would increase the chance of identifying patients that might benefit from prevention and targeted treatment strategies. Citation Format: Ana P. Estrada-Florez, Paul C. Lott, Luis G. Carvajal Carmona. Contribution of multi-organ cancer predisposition genes for gastric cancer risk of different histological subtypes [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C158.

Abstract A128: Adherence to mammography screening guidelines by family history of breast cancer in Guam: Preliminary results of HIPIMR study

Abstract Background: In Guam, breast cancer is the most common cancer affecting women, accounting for approximately 34% of all cancer cases. The risk of developing breast cancer is higher for women with a first-degree relative diagnosed with the disease (FHBC). The American Cancer Society recommends annual mammograms for women aged 45-54, with the option to start screening at 40-44. For women aged 55 and older, biennial or annual screenings are advised. Our study aims to investigate the relationship between having a first-degree relative with breast cancer (FHBC) and adherence to these screening guidelines. Methods: This research utilizes preliminary data from the Hawai‘i and Pacific Island Mammography Registry (HIPIMR), a collaborative effort between the University of Hawai‘i Cancer Center and the University of Guam Cancer Research Center, which collects health and breast imaging data in Hawai‘i and Guam. Logistic regression was used to assess the association between having a first-degree relative with breast cancer (FHBC) and adherence to breast cancer screening guidelines. The analysis was conducted across different ethnic groups and adjusted for education and age. Results: The study included 1,017 women who filled out a risk factor questionnaire, including questions about FHBC, before undergoing screening mammography at a clinic in Guam from November 2023 to May 2024. Among the participants, almost 40% were CHamoru, 41% Filipino, 5% Micronesian, 7.4% Asian, and 4.4% White. Of the 1,017 participants, 18.3% reported having a FHBC, and 37.1% did not meet the screening guidelines. Women with FHBC were more likely to meet screening recommendations than those without FHBC (OR=1.63, 95% CI: 1.12, 2.38, adjusted for age and education). Micronesian women (OR=0.54, 95% CI: 0.30, 0.97) and Asian women (OR=0.50, 95% CI: 0.31, 0.82) were less likely to follow screening guidelines compared to Filipino women, after adjusting for age and education. Conclusion: Women with a FHBC were more likely to follow screening guidelines. However, a significant percentage of women in Guam do not adhere to these recommendations, particularly Micronesian women, who also have the highest rates of breast cancer in Guam. Therefore, more outreach and education efforts are needed to improve breast cancer screening adherence in this population. Acknowledgement: This research was funded by the National Cancer Institute: The University of Guam/University of Hawaii Cancer Center Partnership to Advance Cancer Health Equity, Grant U54CA143728 (University of Guam)/Grant U54CA143727 (University of Hawaii Cancer Center). Citation Format: Reina Evangelista, Su Bin Jin, John Shepherd, Grazyna Badowski. Adherence to mammography screening guidelines by family history of breast cancer in Guam: Preliminary results of HIPIMR study [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr A128.

Abstract C173: Influence of Socio-Demographic and Lifestyle Factors on Lung Cancer Incidence Among African American and European American

Abstract The persistent gap in cancer incidence and outcomes between African American (AA) and European American (EA) populations remains a significant public health challenge. Understanding these discrepancies is pivotal for crafting targeted interventions to mitigate health disparities. To comprehensively assess these inequalities, this study delves into the association between smoking and lung cancer incidence within a diverse cohort of 5270 participants, comprising both AA (868 participants) and EA (3137 participants) individuals. Among the 2901 lung cancer patients identified in our analysis, diagnoses ranged from Malignant Tumors of the Lung to various subtypes of Non-Small Cell and Small Cell Lung Cancer. Surprisingly, only a significant subset of these patients were smokers, with statistical analysis indicating a p<0.001, pointing to other influential demographic factors. Employing the Chi-Square Test of Independence, Logistic Regression, and Multivariate Analysis, we evaluated the impact of smoking alongside additional variables on lung cancer incidence. Factors such as Age, Gender, Socioeconomic Status, Occupational Exposures, Geographic Location, Family History of Cancer, Comorbidities, and Lifestyle Factors were considered in the multivariate analyses to ascertain their contribution to lung cancer risks. Our findings from Relative Risk (RR) and Attributable Risk (AR) assessments suggest that while smoking constitutes a notable risk factor, a substantial proportion of lung cancer cases in this cohort were not linked to smoking. Stratified and Sensitivity Analyses further unveiled nuanced risk profiles within subgroups, elucidating the intricate interplay between lifestyle factors and genetic predispositions. Our study highlights that a significant portion of lung cancer cases, particularly among EA and AA populations, occur in non-smokers, with smoking often associated with other comorbidities rather than solely lung- specific diseases. This underscores the multifaceted nature of lung cancer risk factors across different racial groups, advocating for public health strategies that address a broader spectrum of influences beyond smoking to combat cancer disparities within these communities effectively. Citation Format: Murugesh Eswaran, Briana A Briana A Brock, Hina Abdulrehman Mir, Eric L. Flenaugh, Oprea M. Gabriela, Brian Rivers, Rajesh Singh, Shailesh Singh. Influence of Socio-Demographic and Lifestyle Factors on Lung Cancer Incidence Among African American and European American [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C173.

Abstract C144: Poor survival in non-Hispanic Black HR+/HER2- and HR-/HER2+ breast cancer patients at an NCI-Designated Comprehensive Cancer Center

Abstract Introduction: In the US, 1 in 8 women face a breast cancer diagnosis within their lifetime. While this disease is pervasive, it does not affect all groups of women equally. Non-Hispanic Black (NHB) populations tend to have worse survival outcomes than Non-Hispanic White (NHW) and Hispanic (H) populations. Studying this disparity presents challenges, as it is influenced by many social and biological factors, including quality of cancer care. By comparing NHB, NHW, and H breast cancer patients at Moffitt Cancer Center (MCC), we can describe various factors related to disparate outcomes, while attenuating the effect of varying cancer care settings. Methods: Clinical data (collected from 1986-2018) and patient questionnaire data (collected from 2012-2020) were acquired from MCC databases. Patients were divided into NHW, NHB, and H groups based on their race and ethnicity. Family cancer history, hormonal contraception use, and HR/HER2 subtype were selected for analysis due to their relevance to breast cancer risk or prognosis. Descriptive statistics, chi-square tests, ANOVA, and Tukey tests were performed as appropriate. Results: On preliminary analysis, NHW patients most frequently report a history of cancer diagnosis in one or more first-degree relatives. This is found when considering all cancer types (p<0.001) as well as specifically considering breast, ovarian, and uterine cancer (p=0.029). Patients also disclosed their hormonal contraception use, with 38% of NHW patients reporting an age at which they began using hormonal contraception compared to only 22% of both NHB and H patients (p<0.001). Among those who have used hormonal contraception, there was no significant difference in age of use onset, or total years of use. Significant differences in HR+/HER2-(p<0.001) and HR-/HER2- (p<0.001) frequency were seen between groups. NHB women had the lowest frequency of HR+/HER2- cancers (57%), and the highest frequency of HR-/HER2- cancers (27%). HR-/HER2+ NHB patients displayed significantly worse overall survival relative to NHW (p<0.001) and H (p=0.014) patients of the same subtype. HR+/HER2-NHB patients also have significantly worse overall survival relative to NHW (p=0.010) and H (p=0.010) patients of the same subtype. No significant difference in between-group overall survival is found for the HR-/HER2- and HR+/HER2+ patients. Conclusion: The cohorts in this study provide an opportunity to analyze characteristics and outcomes in breast cancer patients at an NCI-Designated Comprehensive Cancer Center. Higher rates of family cancer history in NHW women and higher rates of HR-/HER2- disease in NHB women align with the literature. NHW patients more frequently reported hormonal contraception use, while showing similarities to NHB and H groups in age and length of use. Despite comparable survival in two HR/HER2 subtypes, HR-/HER2+ and HR+/HER2- NHB women have significantly worse survival than NHW and H women. Further analyses of risk/prognostic factors and treatment regimens are needed to better understand this concerning survival finding. Citation Format: Abigail E. Lantz, Jiannong Li, Ryan F. Gebert, Dung-Tsa Chen, Edna R. Gordián, W. Douglas Cress. Poor survival in non-Hispanic Black HR+/HER2- and HR-/HER2+ breast cancer patients at an NCI-Designated Comprehensive Cancer Center [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C144.

Abstract A103: Feasibility of using data from the All of Us Research Program to better understand Asian American breast cancer risk

Abstract Asian Americans (AAs) are the only racial/ethnic group in the United States for whom cancer is the leading cause of death. In AA women, the rate of breast cancer (BC) has significantly increased in the past two decades. However, the reasons behind the observed increase in risk are not well understood. The All of Us (AoU) Research Program aims to enroll one million participants nationwide, focusing on including individuals from diverse backgrounds, to advance precision health research. The goal of this pilot study was to evaluate the feasibility of using AoU data to analyze factors potentially associated with breast cancer risk in AAs and to develop enhanced breast cancer prediction models. There were 3,433 self-reported AA women with available genomic data. In addition to the genomic data, data was available from surveys, participants’ electronic health records (EHRs), and physical measurements taken at the time of their study visit. BC cases were identified by self-report on surveys (n=38), EHR diagnosis data (n=104), or both survey and EHR (n=59), totaling 201 cases identified. Of these, only 17 were incident cases. Of the 163 cases detected in the EHR, 96.3% were invasive BCs, and the median age at diagnosis was 54.2 (±12.6) years. Among the 38 survey-only-identified cases, age at diagnosis was unclear due to the large age ranges (e.g.18-64 years) in the categories presented in the survey. For purposes of the case-control analysis, five AA women with no BC diagnosis were matched to each BC case by age group and geographic region. Body mass index, annual household income, marital status, history of alcohol consumption, and history of cigarette smoking and vaping were not statistically significantly different between cases and controls (a=0.05). One third (34.3%) of cases were born in the U.S. and 65.2% were born in another country vs. 25.0% and 74.0% of controls, respectively (p= 0.01). Employment status was also different, with 50.8% of cases being unemployed vs. 42.0% of controls (p=0.02). There appeared to be a difference in first-degree family history of BC (reported in 8% of cases vs. 5% of controls) although the results were not statistically significant (p=0.08). However, family history of BC data was not available for 43.3% and 51.0% of the cases and controls, respectively. Gynecologic factors, such as ages at menarche and menopause, and hormone use, were not asked in the surveys and were not widely captured in the EHR data. In our analysis of nine BC- associated genes (BRCA1, BRCA2, ATM, TP53, PTEN, CHEK2, CDH1, PALB2, STK11), pathogenic variants were identified in 1.0% of cases and 0.7% of controls. In summary, the AoU data set enables the study of a diverse national cohort with rich genomic data. However, the low representation of AAs, small numbers of incident cases, limited data on personal gynecologic history, cancer family history and social determinants of health, and broad categorization of age at diagnosis present challenges to using this data to build accurate and effective risk prediction models for BC risk in AAs. Citation Format: Catalina Haas Garcia, Wen-Pin Chen, Danni Liu, Alice W Lee, Min Zhang, Argyrios Ziogas, Sora Tanjasiri, Hannah Lui Park. Feasibility of using data from the All of Us Research Program to better understand Asian American breast cancer risk [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr A103.

Abstract A145: Race and sex disparities in lung cancer screening and evaluation of alternative identifiers in patients’ electronic medical record to better identify lung cancer screening candidates

Abstract Introduction: The US Preventive Services Task Force (USPSTF) recommends lung cancer screening with a low dose CT scan in patients who are 50 – 80 years old with at least a 20 pack-year smoking history and currently smoke or quit in the last 15 years. Yet, only 5.8 percent of eligible Americans were screened in 2022. We investigated demographic screening patterns and evaluated for alternative identifiers in patients’ electronic medical record (EMR) to identify lung cancer screening candidates at a large and diverse cancer center in Los Angeles. Methods: We examined 607 patients with non-small cell lung cancer (NSCLC) treated at the University of Southern California Norris Comprehensive Care Center or Los Angeles General Medical Center from 2009-2023. EMR data included age of diagnosis, sex, race/ethnicity, smoking history, and stage at diagnosis; for patients with unknown number of pack years (n=25) they counted as not qualified for screening. Identifiers investigated were International Classification of Disease, Tenth Revision (ICD-10) code for chronic obstructive pulmonary disease (COPD), prescription of inhaled steroids, and documented lung cancer history. Fisher’s exact test was used to compare proportion of qualified screeners among groups. Results: 35% (215/607) of patients would have qualified for lung cancer screening according to the USPSTF guidelines, including a greater proportion of males 52% (164/313) versus females 17% (51/293) (p<0.0001). In males, Non-Hispanic Whites (NHW) 59% (55/93) had a greater proportion that would qualify compared to Hispanics 41% (31/75) (p=0.0295). In females, NHW 34% (30/89) had the highest proportion of qualifiers while Asians 6% (6/104) and Hispanics 9% (6/66) had the lowest proportion of qualifiers (p<0.0001). 65% (215/332) of smokers qualified for screening; males had a higher percentage who qualified for screening versus females (164/234, 70% vs. 51/98, 52%, p=0.0024). By race, NHW male smokers had the highest proportion of qualifiers 77% (55/71) while Hispanic women had the lowest proportion of qualifiers 50% (6/12). 27% (89/332) of patients were found to have an ICD-10 code for COPD, including 18% (21/117) had an ICD-10 code for COPD who did not qualify. 19% (63/332) smokers received a prescription for inhaled steroids, including 15% (18/117) of them who didn’t qualify for screening. 12% had a family history of lung cancer (39/332), while 9% (10/117) of these patients didn’t qualify for screening. Conclusion: There were significant race and sex screening disparities among known NSCLC patients including under 10% of Asian and Hispanic females. There were about 10-15% known lung cancer patients who would not have qualified for screening found to have an ICD-10 code for COPD, an inhaled steroids prescription, or documented family history. These alternative identifiers may serve as identifiers for lung cancer screening candidates in the EMR to help address race and sex disparities in screening. Future directions should include simulation of these identifiers in larger patient datasets. Citation Format: Darin Poei, Aubree Mades, Iris Yao, Nick Ahn, Ajay Prasad, Jennifer Tsui, Jacob S Thomas, Jorge J Nieva, Robert Hsu. Race and sex disparities in lung cancer screening and evaluation of alternative identifiers in patients’ electronic medical record to better identify lung cancer screening candidates [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr A145.

Abstract A118: Barriers and facilitators to cervical cancer screening among older Hispanic women living in San Antonio, TX

Abstract Background: Disparities among Hispanic women getting screened for cervical cancer compared to non-Hispanic White women continue to exist, despite Hispanic women having higher incidence and mortality rates of cervical cancer. Previous work has shown limited knowledge and awareness about cervical cancer and screening, low health literacy, and cultural aspects such as fatalism as barriers to screening. On the other hand, having health insurance, a family history of cervical cancer and religiosity have been found to facilitate cervical cancer screening among Hispanic women. Moreover, in Texas, research has shown that women older than 50 and Hispanic women have lower rates of screening. Methods: Informed by the social determinants of health framework, we are interviewing Hispanic women living in San Antonio, TX about their experiences regarding cervical cancer screening. Questions cover the areas of knowledge about cervical cancer and cervical cancer screening, and barriers and facilitators to cervical cancer screening. We have completed 11 out of 36 planned interviews. Data analysis is guided by applied thematic analysis techniques. Preliminary Results: Currently, ages range from 50 to 64 years old. Most women are married and half are retired. Preliminary analysis shows continued low levels of knowledge about cervical cancer and screening. Barriers include feelings of fear and embarrassment about the test, physician’s gender, and access to healthcare, such as issues with transportation. Facilitators include physician’s attitude, clinic reminders, and having health insurance. Conclusion: More research is needed to understand and address barriers and facilitators to cervical cancer screening in this age group. Targeted public health efforts, including educational and multilevel interventions, should continue to increase knowledge about cervical cancer, and acceptability and access to cervical cancer screening among older Hispanic women living in San Antonio, TX. Citation Format: Coralia Vázquez-Otero, Audrey Cordova, Rita Pedraza, Selena Baglini, Amelie G. Ramírez. Barriers and facilitators to cervical cancer screening among older Hispanic women living in San Antonio, TX [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr A118.

Abstract PR001: A comparison of modeling approaches to assess the interplay of social, behavioral, and environmental factors on lung cancer racial disparities

Abstract Purpose: While risk factors for lung cancer incidence are well established, our understanding of factors driving an increased risk of lung cancer among Black/African American populations remains incomplete. Methods: We assembled data from five U.S. lung cancer case-control studies matched on race, gender and age: the Southern Community Cohort Study, the Inflammation, Health, Ancestry and Lung Epidemiology study, the Northern California Lung Cancer Study, three Detroit area lung studies, and the NCI-Maryland Lung Cancer Study. Incident lung cancers were ascertained from state and regional cancer registries or National Death Index mortality records. Social, behavioral, and environmental factors were ascertained by in-person interviews or mailed-in questionnaires. Participant's residential addresses were geocoded and area-level area deprivation and environmental justice variables were linked at the census block. We evaluated interactions between known lung cancer risk factors and race using multilevel logistic regression analyses and novel tree-based approaches to identify potential factors contributing to racial disparities. Tree-based approaches included a conditional matched classification tree analysis designed to detect complex interactions, as well as a specialized partially recursively induced structured moderation (PRISM) analysis to study variation in disparity in lung cancer risk across levels of educational status. Results: Among 5,829 lung cancer cases and 10,671 controls (64% self-identified Black/African American and 36% White), the average age was 60 years, 50% were female, and 24% had less than a high school education. Conditional logistic regression models fit after imputation of missing data identified increased risk of lung cancer associated with personal history of cancer, family history of lung cancer, current smoking status, smoking duration, smoking pack-years, and higher neighborhood deprivation; whereas, reduced lung cancer risk was associated with higher education and increased BMI. Similar patterns were observed among Black/African Americans only, with the addition of secondhand smoke exposure. Assessment for interactions with race identified significant interactions between race and body mass index (BMI) (p-value < 0.0001), PM2.5 (p= 0.010) and gender (p=0.001) and lung cancer risk. A conditional matched classification tree analysis identified both increased and decreased risk subgroups defined by multi-way interactions of similar variables that were identified as significant main effects in the conditional logistic regression analysis. Smoking pack-years and BMI were identified as the most important determinants of heterogeneity of disparity in lung cancer risk across educational levels in our study population. Conclusions: The use of both traditional and novel tree-based based approaches provide approaches for identifying factors contributing to racial disparities. Future studies should assess the interplay of lung cancer risk factors to inform development of targeted interventions. Citation Format: Melinda C. Aldrich, Chen Zhao, Christine M Lusk, Lucie McCoy, James Jaworski, Michael Mumma, Catherine Pichardo, Michael Betti, John K Wiencke, Brid Ryan, Ann G Schwartz, Sunil Rao. A comparison of modeling approaches to assess the interplay of social, behavioral, and environmental factors on lung cancer racial disparities [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr PR001.

Abstract C123: Exploring the cancer phenotype of a potential CDKN2A founder variant, c.146T>C (p.Ile49Thr), in Hispanic/Latinos of predominately Mexican ancestry

Abstract BACKGROUND: CDKN2A germline pathogenic/likely pathogenic variants (PVs) cause familial atypical multiple mole melanoma syndrome, which increases melanoma (MEL) and pancreatic cancer (PC) risk. The interpretation of genetic test results can be complicated by discordant variant classifications. CDKN2A c.146T>C (ClinVar ID:127523) is such a variant and is classified as likely pathogenic at some laboratories and as uncertain at others. Furthermore, the variant frequency in Hispanic/Latinos (H/Ls) is higher than typically expected for a PV in CDKN2A and some functional studies support that it is a PV. METHODS: Genetic counseling databases at various institutions were queried for demographic, personal and family cancer history data for individuals with known PVs in CDKN2A, with c.146T>C, and c.–2G>A (ClinVar ID:141245), a benign CDKN2A variant (BV) seen in H/Ls to serve as a comparator. The association between personal and/or family history of PC and/or MEL and demographic/clinical characteristics was tested using Fischer exact test, Chi-square test, and post-hoc test with ANOVA. Odds ratios were calculated with multinomial logistic regression. RESULTS: Overall, 219 individuals were identified; 109 with c.146T>C, 60 with other CDKN2A PVs, and 50 with the BV; 82% were female, 76% H/L, and 70% had a personal cancer history – 18% (n=27) had MEL and 10% (n=16) had PC. By variant group, 99% (c.146T>C) and 96% (BV) were H/L; 85% and 84% of Mexican ancestry, respectively. MEL was reported in 38% (n=22) of other PVs, 5% (n=5) of c.146T>C, and not at all in the BV group. Those with c.146T>C were 92% less likely to have MEL than other CDKN2A PVs (p<0.001), with no difference in mean age at diagnosis, 32y vs. 40y, respectively (p=0.71). Seven (12%) of other PVs had PC compared to 6% (n=7) of c.146T>C and 4% (n=2) of the BV. While this difference was not significant (p=0.27), the mean age at diagnosis in c.146T>C was significantly younger than other PVs (32y vs. 71y; p=0.02). When including family history, those with c.146T>C were 80% less likely to have a personal AND family history of MEL than other PVs (p<0.001), but the odds of having both a personal AND family history of PC was not significantly different (p=0.52). CONCLUSION: In the largest CDKN2A c.146T>C study (n=109) to date, MEL was significantly less frequent in individuals with this variant compared to other PVs CDKN2A. A similar, non-significant, trend was seen for PC. Notably, individuals with c.146T>C who developed PC presented at a significantly younger age than individuals with other CDKN2A PVs. The presence of c.146T>C in H/Ls of mostly Mexican ancestry suggests it may be a founder variant. While more research is needed to further refine cancer penetrance and associations, the conservative approach is to manage c.146T>C as per CDKN2A PV guidelines. Given the frequency of this variant in genomic databases, clarifying clinical impact is vital for risk- appropriate management and to reduce existing cancer disparities faced by many H/Ls. Citation Format: Daisy Hernandez, Ashlie Browning, Amber Gemmell, Karlena Lara-Otero, Mariana Niell-Swiller, Kathyrn A. Mraz, Amie Blanco, Yvonne Cardona, Emmeline Chang, Jacob Comeaux, Julie O. Culver, James M. Ford, Natalia Gutierrez, Daniella Kamara, Beth Y. Karlan, Ming Li, Jacqueline Mersch, Qi Nie, Maria L. Wei, Charité N. Ricker. Exploring the cancer phenotype of a potential CDKN2A founder variant, c.146T>C (p.Ile49Thr), in Hispanic/Latinos of predominately Mexican ancestry [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C123.

Abstract A027: Ethnic variations in breast cancer risk factors distribution in Guam, HIPIMR study

Abstract Background: Guam has significant ethnic disparities in breast cancer incidence, with rates varying from 46.7 per 100,000 among Asian women to 137.5 per 100,000 among Micronesian women. Incidence rates for Filipino, CHamoru (indigenous people), and White women are 59.8, 94.0, and 121.9 per 100,000, respectively (2013-2017). The Hawai‘i and Pacific Island Mammography Registry (HIPIMR), a collaborative effort between the University of Hawai‘i Cancer Center and the University of Guam Cancer Research Center, collects health and breast imaging data to enhance early cancer detection tailored to the unique ethnic profiles of women in Hawai‘i and Guam. This study aims to identify the distribution of breast cancer risk factors among different ethnic groups in women undergoing screening in Guam. Differences in the prevalence of risk factors may explain variations in incidence patterns. Methods: This study included 1,413 women undergoing mammography screening at FHP Health Center in Guam, from November 2023 to May 2024. The risk factors were classified as follows: BMI (≥25), age of menarche (≤13), age of first pregnancy (≥30), number of live births (≤1), age of menopause (≥55), and family history of first-degree relatives. The robust Poisson method was used to estimate prevalence ratios (PR) of risk factors among ethnic groups, adjusted for age and education. Asians were used as the reference group due to their lowest incidence rates. Furthermore, the total risk score was calculated by summing all the risk factors. ANOVA was used to test the differences in average risk scores among different ethnic groups. Results: All ethnic groups had significantly higher prevalence of being overweight or obese compared to Asian women. The prevalence ratios were highest for Micronesians (PR=1.73, 95% CI: 1.40, 2.13) and CHamoru (PR=1.55, 95% CI: 1.27, 1.90). CHamoru women had the highest rates of breast cancer family history (PR=1.74, 95% CI: 1.19, 2.54). However, CHamoru women had a lower prevalence of having a small number of live births (PR=0.39, 95% CI: 0.24, 0.65) and an older age at first birth (PR=0.83, 95% CI: 0.71, 0.96) when compared to Asian women. There was a significant difference in average score among ethnic groups (P<.001). CHamoru women had significantly higher score (2.35) than Filipino (2.08) and Asian (2.00) women. Conclusion: Our study reveals disparities in risk factors across ethnic groups, consistent with the Guam Cancer Registry's reports of high breast cancer rates among Micronesian and CHamoru women. This project is ongoing, with the aim of linking our data with the Guam Cancer Registry. This linkage will enable us to identify breast cancer cases among participants and compare risk factors across different ethnic groups for women with and without breast cancer. Acknowledgement: This research was funded by the National Cancer Institute: The University of Guam/University of Hawaii Cancer Center Partnership to Advance Cancer Health Equity, Grant U54CA143728 (University of Guam, YCP)/Grant U54CA143727 (University of Hawaii Cancer Center). Citation Format: Gian Paras, Su Bin Jin, Rose Grino, Cabrini Aguon, John Shepherd, Grazyna Badowski. Ethnic variations in breast cancer risk factors distribution in Guam, HIPIMR study [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr A027.

Family history and genetic risk score combined to guide cancer risk stratification: A prospective cohort study.

Family history (FH) of cancer and polygenic risk scores (PRS) are pivotal for cancer risk assessment, yet their combined impact remains unclear. Participants in the UK Biobank (UKB) were recruited between 2006 and 2010, with complete follow-up data updated until February 2020 for Scotland and January 2021 for England and Wales. Using UKB data (N = 442,399), we constructed PRS and incidence-weighted overall cancer PRS (CPRS). FH was assessed through self-reported standardized questions. Among 202,801 men (34.6% with FH) and 239,598 women (42.0% with FH), Cox regression was used to examine the associations between FH, PRS, and cancer risk. We found a significant dose-response relationship between FH of cancer and corresponding cancer risk (Ptrend < .05), with over 10 significant pairs of cross-cancer effects of FH. FH and PRS are positively correlated and independent. Joint effects of FH of cancer (multiple cancers) and PRS (CPRS) on corresponding cancer risk were observed: for instance, compared with participants with no FH of cancer and low PRS, men with FH of cancer and high PRS had the highest risk of colorectal cancer (hazard ratio [HR]: 3.69, 95% confidence interval [CI]: 3.01-4.52). Additive interactions were observed in prostate and overall cancer risk for men and breast cancer for women, with the most significant result being a relative excess risk of interaction (RERI) of 2.98, accounting for ~34% of the prostate cancer risk. In conclusion, FH and PRS collectively contribute to cancer risk, supporting their combined application in personalized risk assessment and early intervention strategies.