History Of Cancer Patients Research Articles

Patient-driven decisions and perceptions of the ‘safest possible choice’: insights from patient-provider conversations about how some breast cancer patients choose contralateral prophylactic mastectomy

Objective Observe patient-clinician communication to gain insight about the reasons underlying the choice of patients with unilateral breast cancer to undergo contralateral prophylactic mastectomy (CPM), despite lack of survival benefit, risk of harms, and cautions expressed by surgical guidelines and clinicians. Methods & Measures WORDS is a prospective study that explored patient-clinician communication and patient decision making. Participants recorded clinical visits through a downloadable mobile application. We analyzed 44 recordings from 22 patients: 9 who chose CPM, 8 who considered CPM but decided against it, and 5 who never considered CPM. We used abductive analysis combined with constructivist grounded theory methods. Results Decisions to undergo CPM are patient-driven and motivated by perceptions that CPM is the most aggressive, and therefore safest, treatment option available. These decisions are shaped not primarily by the content of conversations with clinicians, but by the history of cancer in patients’ families, their own first-hand experiences with cancers among loved ones, fear for their children, and anxiety about cancer recurrence. Conclusion The perception that CPM is the safest, most aggressive option strongly influences patients, despite scientific evidence to the contrary. Future efforts to address high CPM rates should focus on patient-driven decision making and cancer-related fears.

Prevalence of unexpected actionable germline pathogenic variants identified on broad-based multi-gene panel testing in a cohort of cancer patients.

10523 Background: Broad-based germline multi-gene panel testing (MGPT) for inherited predisposition has become increasingly common for cancer patients. Both indications for germline testing and the spectrum of genes on MGPT have expanded. We sought to examine the frequency of an unexpected pathogenic/likely pathogenic variant (P/LPV) in patients with a variety of solid and hematologic malignancies undergoing MGPT. Methods: A retrospective review of patients with a history of cancer who underwent MGPT at a single institution from 2015 to 2021 with MGPT of > 20 cancer predisposition genes. Low penetrance genes and genes with a recessive inheritance pattern were excluded. Deidentified pedigrees were analyzed by genetic counselors for clinical diagnostic criteria and gene-specific national testing guidelines to determine whether clinical suspicion of the P/LPV was present. Results: 10,975 cancer patients underwent MGPT. 1,180 (10.9%) patients were found to have > 1 P/LPV in a moderate or highly penetrant cancer susceptibility gene. 357 (3.3%) of the P/LPV were unexpected based on patient’s personal cancer history alone. 208 (1.9%) of the P/LPV remained unexpected after patient and family cancer histories were considered. Most common cancer subtypes with an unexpected P/LPV were breast [1.5% (83/5691)], prostate [2.1% (28/1300)], colorectal [2.2% (18/823)], ovarian/fallopian [1.7% (13/781)] and uterine [ 2.8% (10/352)] cancer. Most frequent unexpected P/LPV were PMS2 (n = 19), MITF (n = 18), ATM (n = 18), BRIP1 (n = 17), CHEK2 (n = 14), HOXB13 (n = 13), SDHA (n = 12), BRCA2 (n = 7), MSH6 (n = 7), SDHC (n = 7), TP53 (n = 7), and PALB2 (n = 6). No predictor of having an unexpected P/LPV was identified in multivariable logistic regression analysis. Low penetrance or recessive variants were found in 521 (4.8%) patients. Variants of uncertain significance (VUS) were found in 3,774 (35.0%) patients. Conclusions: This large retrospective analysis of cancer patients undergoing MGPT identified an overall rate of 1.9% of P/LPV in actionable cancer predisposition genes. Findings were more often unexpected (3.3%) when considering only the patient cancer history, endorsing the importance of family cancer history for consideration of more targeted genetic testing. Identification of moderate or highly penetrant P/LPV in cancer patients is increasingly important in guiding treatment decisions, cancer screening in survivors and testing of at-risk family members. These findings may justify consideration of broader MGPT panels especially when family cancer history is uncertain or unavailable. MGPT also detected a high rate of VUS, reinforcing the importance of physician education to ensure appropriate interpretation and management.

Cancer as a risk factor for physical dysfunction and poor prognosis in patients with cardiovascular disease

Abstract Introduction The emerging interdisciplinary field of cardio-oncology is of interest to clinicians because a history of cancer or cancer treatment is considered a severe risk factor for cardiovascular disease (CVD). Both cancer and CVD can reduce skeletal muscle mass; together, they can lead to a poorer prognosis. However, it is unclear whether a patient's cancer history can lower physical function and lead to a poor prognosis with the coexistence of cancer history and physical dysfunction in patients with CVD. This study aimed to identify the relationship between cancer history and physical function, as well as the prognostic value of their combination, in patients with CVD. Methods We reviewed 3,640 patients with CVD (mean age, 67.9±13.5 years) who underwent physical-function tests (gait speed and 6-min walking distance [6MWD]). We performed multivariate linear regression analysis to assess potential associations between cancer history and physical-function tests in patients with CVD. Additionally, we used the Kaplan–Meier curve and Cox regression analyses to assess survival and prognostic significance for patients divided into four groups according to the presence or absence of cancer history and high or low physical function. Results In multivariate linear regression analysis, cancer history was independently associated with lower gait speed and 6MWD (gait speed, P=0.048 and 6MWD, P=0.040). A total of 581 deaths occurred over a median follow-up period of 3.08 years (interquartile range: 1.36–5.27). For all-cause mortality, patients with a history of cancer and reduced physical function were found to have a significantly higher mortality risk even after adjusting for several covariates (gait speed, HR: 1.66, P=0.003 and 6MWD, HR: 1.71, P=0.003). Conclusion Cancer history was correlated with physical dysfunction in patients with CVD. Moreover, the coexistence of cancer history and physical dysfunction resulted in poorer prognosis in patients with CVD. Funding Acknowledgement Type of funding sources: None.

P1.07-02 Personal and Family HiStory of CANcer in Patients with Non-small Cell Lung Cancer: Preliminary Data of the SCAN Study

Emerging evidence indicates that lung cancer can be associated with individual predisposition to cancer, however there are very limited data regarding the clinical and molecular profile of lung tumors in patients with family history of cancer. We aimed to describe the prevalence of family history of cancer and the profile of patients/tumor associated in a cohort of patients with non-small cell lung cancer (NSCLC).

Contrast Medium Hypersensitivity: A Large Italian Study with Long-Term Follow-Up.

Hypersensitivity reactions (HRs) to contrast media (CM) are a major problem. We compared differences of HRs to iodinated contrast media (ICM) versus gadolinium-based contrast media (GBCM), collecting data on prevalence, type, latency and severity. Secondly, the predisposition to perform new contrast tests, use of premedication and possible appearance of new reactions were explored in a long-term follow-up of 5 years. Clinical data, comorbidities, skin test (ST) results, re-exposure to CM procedures with any new reactions, premedication and CM used were collected. In a retrospective single-center study, 350 patients with mild to moderate HRs were enrolled. Asthma, food allergy, non-allergic drug hypersensitivity and neurologic disease were significantly more frequent in patients with HRs to GBCM compared to the high evidence of cardiovascular disease and history of cancer in patients with HRs to ICM. A marked delay in performing STs was reported by patients with negative results (66 months, p < 0.01). Iomeprol, iopamidol and gadobenic acid were the culprit CM most involved in HRs in patients with positive STs. During follow-up, 7.1% of responders reported new HRs to CM despite negative STs, premedication and infusion of alternative CM in most cases.

Ovarian Cancer Metastatic to Breast and Axilla: A Case Report

Background: Metastases to breast and axilla from extramammary sites are uncommon and have been reported in only 2% of breast malignancies. Ovarian cancer metastatic to breast and axillary lymph nodes is extremely rare and only accounts for 0.03%-0.6% of all breast neoplasms. The most common histologic feature of ovarian cancer metastatic to breast is papillary serous adenocarcinoma. Differentiating the secondary breast malignancies from primary ones is crucial as the treatment and prognosis are different, which could avoid many unnecessary procedures. Prognosis is generally poor because most patients have simultaneous spread of the disease.&#x0D; Case presentation: A 67-year-old woman with a history of ovarian cancer, undergoing chemotherapy presented with redness and swelling in her left breast and pathologic axillary lymph nodes. Work ups revealed ovarian cancer metastases to breast and axillary lymph nodes. She underwent chemotherapy with second line chemotherapeutics. The results were satisfying and the patient is well.&#x0D; Conclusion: The history of cancer in patients with a breast mass, even if clinically benign, may give rise to potential metastases. Screening with physical examination and serial mammography for patients with ovarian cancer could be beneficial. Early and accurate diagnosis of breast metastatic tumors is critical for proper management and preventing unnecessary and possibly harmful procedures.

Association between cardiovascular disease and a history of cancer in patients with chest pain on the fast track outpatient clinic

BackgroundThe purpose of this study is to investigate the prevalence of a history of malignancy in patients with chest pain who were referred for computed tomography angiography as well as the long-term survival and cardiovascular outcomes, including coronary artery disease (CAD) and coronary artery calcium (CAC) percentiles of cancer survivors. These data are relevant since it is unknown how cancer survivors, who underwent cardio-toxic therapies, should be monitored.MethodsWe analysed all patients with chest pain, who came to the outpatient clinic and underwent computed tomography angiography. The primary study endpoint was long-term survival. The secondary endpoints included CAD on computed tomography angiogram (CTA), CAC percentiles, suspected and confirmed malignancy on CTA, and other accidental findings on CTA.ResultsOf all 1,892 patients included in the analyses, 133 (7%) had a history of malignancy and 1,759 (93%) did not. Mortality rates were higher for the cancer survivors (6.5% vs 20.9% after ten years, p < 0.001). The multivariable Cox regression model also showed higher mortality for cancer survivors after ten years (adjusted hazard ratio 2.48 [95% confidence interval: 1.58–3.90]). CAD did not differ between both groups. CAC percentiles were higher in cancer survivors (p = 0.037). Cancer survivors had more suspected malignancies (3.8% vs 0.5%; p = 0.001) and also more confirmed malignancies on CTA (3.0% vs 0.1%; p < 0.001).ConclusionsCancer survivors have higher mortality rates, no difference in CAD on CTA, higher CAC percentiles and more often malignancy on CTA compared with patients without a cancer history.Electronic supplementary materialThe online version of this article (10.1007/s12471-019-1268-8) contains supplementary material, which is available to authorized users.

Prognostic significance of history of nonmuscle invasive bladder cancer in patients with muscle invasive bladder cancer treated with neoadjuvant chemotherapy followed by surgery.

375 Background: Efficacy of cisplatin-based neoadjuvant chemotherapy (NAC) followed by radical cystectomy (RC) for T2-4aN1M0 muscle-invasive bladder cancer (MIBC) was proved by randomize controlled trials. Recent retrospective studies suggested that MIBC patients who had a history of non-muscle invasive bladder cancer (NMIBC) had lower pathologic complete response and worse overall survival rate to NAC and RC. This study aimed to compare clinical outcomes between MIBC that progressed from NMIBC (secondary MIBC) and primary MIBC. Methods: A retrospective analysis of patients with urothelial carcinoma (cT2-4aN0-1M0) who received neoadjuvant chemotherapy from January 2011 and December 2017 in Asan Medical Center was conducted. Clinicopathologic outcomes were compared between 187 patients with primary MIBC and 38 patients with secondary MIBC. Results: Baseline characteristics are well balanced between the groups. Downstaging rate ( &lt; ypT2 and no N upstaging) are 46.7% for secondary MIBC group, 55.6% for primary MIBC group (p = 0.390), and positive pathologic metastatic nodes (ypN1+) are observed in 23.3% for secondary MIBC group, 18.3% for primary MIBC group (p = 0.523). There were no differences in overall survival (OS) (3 year OS 69.3% for secondary MIBC, 70.3% for primary MIBC, p = 0.420), disease-free survival (DFS) (3 year DFS 57.7% vs 56.6%, p = 0.880) between the groups. History of NMIBC is not independent prognostic factor for OS on multivariable analysis. Conclusions: Patients with secondary MIBC treated with NAC showed no differences in NAC response, pathologic downstaging rate, OS, DFS compared to patients with primary MIBC. Prospective or larger cohort study are required in the future. Genomic analysis is ongoing to identify genetic differences between two groups.

Upregulation of LncRNA FEZF-AS1 is associated with advanced clinical stages and family history of cancer in patients with NSCLC

Antisense RNA (AS) is a type of long non-coding RNAs that functions as a post-transcriptional regulatory element on regulating parental coding gene expression via directly binding to complementary mRNA sequences. We aimed to investigate the effect of the AS to FEZF1 gene on non-small cell lung cancer (NSCLC) development. The expression level of lncRNA FEZF-AS1 and FEZF1 was determined by the quantitative Real-time PCR in 160 cases of NSCLC tissues and their adjacent non-tumour tissues. We found that lncRNA FEZF-AS1 was significantly up-regulated in tumour tissues when compared to the adjacent non-cancerous tissues (P = 0.001), and it’s high expression correlated with advanced stages (P = 0.002) and Tumour Family History (P = 0.029). Meanwhile, In 58 cases of NSCLC tissues the expression of lncRNA FEZF-AS1 was positively associated with that of FEZF1expression (r = 0.8810, p = 1.6575E-20). By GEPIA database analysis, we also found that the expression of lncRNA FEZF-AS1 and FEZF1 were significantly higher in tumour tissues than those of the adjacent non-cancerous tissues in 969 NSCLC patients (P < 0.05), and lncRNA FEZF-AS1 was positively correlated with FEZF1 (r = 0.90, P < 0.001). These results suggest that lncRNA FEZF-AS1 relate to the progression of lung cancer patients and it may be a potential target for cancer therapy.

Knowledge of smoking as a risk factor for disease among urology clinic patients in Australia.

Smoking remains a common habit among the general population. Despite the well-established risks of smoking, relatively few studies have been undertaken to assess the understanding of these risks among the general population. We intended to assess the understanding of smoking as a risk factor for various conditions in a urology outpatient cohort to assess the level of knowledge as well as particular strengths and weaknesses they possess. A four-page questionnaire was distributed among urology outpatients over a 5month period. The questionnaire captured information regarding the knowledge of smoking as a risk factor for various urological and non-urological conditions. Results were collated and stratified according to patient's cancer history as well as smoking status. A total of 112 participants were included in our analytical sample. Our study demonstrated a deficiency in knowledge regarding smoking and urological conditions. When ranked by level of knowledge, four of the bottom five conditions were urological in nature. Furthermore, we found that patients with a personal cancer history demonstrated generally poorer knowledge of smoking as a risk factor compared to patients without a cancer history. Conversely, smokers themselves demonstrated a greater understanding of risks compared to non-smokers. Our study suggests there is much work to be done in the education of patients on the risks of smoking from a urological point of view. We believe more initiative needs to be taken by the specialists treating such patients to achieve an improved level of knowledge.

Increase in contralateral prophylactic mastectomy conversation online unrelated to decision-making

BackgroundThe increased uptake of contralateral prophylactic mastectomy (CPM) among breast cancer patients remains poorly understood. We hypothesized that the increased rate of CPM is represented in conversations on an online breast cancer community and may contribute to patients choosing this operation. MethodsWe downloaded 328,763 posts and their dates of creation from an online breast cancer community from August 1, 2000, to May 22, 2016. We then performed a keyword search to identify posts which mentioned breast cancer surgeries: contralateral prophylactic mastectomy (n = 7095), mastectomy (n = 10,889), and lumpectomy (n = 9694). We graphed the percentage of CPM-related, lumpectomy-related, and mastectomy-related conversations over time. We also graphed the frequency of posts which mentioned multiple operations over time. Finally, we performed a qualitative study to identify factors influencing the observed trends. ResultsSurgically related posts (e.g., mentioning at least one operation) made up a small percentage (n = 27,678; 8.4%) of all posts on this community. The percentage of surgically related posts mentioning CPM was found to increase over time, whereas the percentage of surgically related posts mentioning mastectomy decreased over time. Among posts that mentioned more than one operation, mastectomy and lumpectomy were the procedures most commonly mentioned together, followed by mastectomy and CPM. There was no change over time in the frequency of posts that mentioned more than one operation. Our qualitative review found that most posts mentioning a single operation were unrelated to surgical decision-making; rather the operation was mentioned only in the context of the patient's cancer history. Conversely, the most posts mentioning multiple operations centered around the patients' surgical decision-making process. ConclusionsCPM-related conversation is increasing on this online breast cancer community, whereas mastectomy-related conversation is decreasing. These results appear to be primarily informed by patients reporting the types of operations they have undergone, and thus appear to correspond to the known increased uptake of CPM.

The Impact of Patient Demographics on the Selection of Breast Imaging Centers.

Studies show that health care tailored to patient preferences results in significant improvements in physician performance, patient satisfaction, and health outcomes. Limited information in the literature exists on the factors driving patient preferences for establishing care at specific breast imaging centers. In this study, we identified factors that drive cohort preferences in the selection of a breast imaging center. An 18-question survey was deployed in a large metropolitan area to gather information on patient demographics and preferences for breast imaging center location and radiologist training level. Cluster analysis and the K-means method were used to classify patients into groups on the basis of their answers about preference. Clusters were tested for significant differences by location, reason for visit, age, education, marital status, ethnicity, insurance, history of cancer, and income. A total of 1682 survey responses (18% of total patient visits) were obtained. Four distinct cohorts (comprising 876 patients) based on patient care preferences were identified: convenience optimizers (n = 109, 12.4%), ambivalent patients (n = 237, 27.1%), medical center seekers (n = 324, 37.0%), and expertise seekers (n = 206, 23.5%). Each cohort showed distinct preferences for imaging center location and radiologist training. Cohorts were differentiated on the basis of patient education level, ethnicity, and patient cancer history. Across the cohorts, there were no significant differences in age, marital status, insurance, income, and other demographic factors. Patient preferences for breast imaging care and location vary and are correlated with specific demographic characteristics. An understanding of these population characteristics can shape organizational strategies for improving patient-centered care and outcomes.

Prevalence of Family History of Cancer among Gastric Cancer Patients at Brazilian National Cancer Institute

Background: Gastric cancer is the third most incident malignancy and the fifth leading cause of death in the world. In Brazil, it is the fourth most common tumour in men and the fifth in women. Familial aggregation of this tumour is being studied and discussed by experts. Aim: Determine the frequency of family history of cancer in patients with gastric cancer, suggesting familial aggregation or increased risk for hereditary cancer syndromes. Methods: This is a retrospective cross-sectional study carried out from January 2011 to March 2015 at the Department of Abdominal and Pelvic Surgery of the Brazilian National Cancer Institute (INCA). Data were collected from electronic medical records and analyzed using SPSS Statistics? version 20. Results: 873 patients with gastric adenocarcinoma were analyzed. A family history of cancer was reported by 451 patients (51.6%), which reported cancer in 878 relatives, of which 110 (12.6%), reported having more than three relatives with any type of cancer. The most prevalent malignancies among these relatives were gastric cancer (21.3%) and breast cancer (9.5%). Conclusion: Most of the patients had cancer family history, being gastric cancer the most common. The high percentage of cancer family history confirms the importance of collecting this information, whose lack reflects professional negligence, as family history study can serve as a low-cost tool, favoring prevention and early diagnosis, situations where morbidity and mortality are smaller, thus reducing health costs and assistance and preserving lives.

Cutaneous Metastasis of Giant Cell-Rich Osteosarcoma.

Dear Editor: Cutaneous metastasis from osteosarcoma is exceedingly rare, with only 11 cases reported in the literature1. Giant cell–rich osteosarcoma is a rare variant of osteosarcoma, accounting for 1%~3% of conventional osteosarcomas2. Herein, we present the rare case of a patient with cutaneous metastasis of giant cell–rich osteosarcoma, which closely resembled a giant cell tumor. Owing to the different prognoses and treatment strategies for these tumors, it is important to ensure that the correct differential diagnosis is made. A 43-year-old man presented with a 6-month history of nodules on his scalp. He had been diagnosed with giant cell-rich osteosarcoma in his right femur along with metastases to multiple organs, including the lungs and the mandible, 1 year ago. The metastatic lung nodules had increased in size despite 6 months of chemotherapy with ifosfamide, adriamycin, and high-dose methotrexate. Subsequently, oncologists changed the regimen to gemcitabine and docetaxel, but the tumor still progressed. Therefore, the regimen was changed once again, and he was admitted to receive a second cycle of cyclophosphamide and etoposide as a third-line regimen. Upon physical examination, several firm skin-colored to erythematous nodules were palpated on his scalp, each measuring approximately 5~12 mm (Fig. 1). Histopathological findings showed many uniformly distributed, multinucleated giant cells containing pleomorphic nuclei. Mononuclear tumor cells had hyperchromatic nuclei with a variety of morphologies, such as round, oval, polygonal, and spindle-shaped (Fig. 2). Although atypical mitoses or dominant osteoid formations were hardly observed, these histological findings were consistent with those of giant cell-rich osteosarcoma, which was previously confirmed by right femur biopsy (Fig. 2). Three months later, he died of sepsis following bone marrow failure caused by the continued chemotherapy. Fig. 1 Three 5 to 12-mm, flesh-toned to erythematous, firm nodules on the scalp (arrows). Fig. 2 (A) Hypercellular stroma composed of mononuclear tumor cells and many multinucleated giant cells (H&E, ×40). (B) Mononuclear tumor cells with a variety of morphologies and multinucleated giant cells containing large pleomorphic nuclei ... Several studies have reported that giant cell-rich osteosarcomas are sometimes misdiagnosed as giant cell tumors because of their similar clinicopathological features2,3,4. However, these tumors have extremely different clinical courses and prognoses. Giant cell tumors are usually benign with a metastatic rate of <2%, while the clinical course of osteosarcoma is extremely aggressive, with rapid hematogenous systemic dissemination and a tumor-related mortality of 75% within 5 years of diagnosis1,5. For these reasons, Huang et al.3 suggested the use of some key factors to distinguish these two tumors, including osteoid formation, nuclear pleomorphism, and atypical mitotic figures3. However, osteoid formation cannot be found in small biopsy samples or samples from early lesions4. Tumor cell pleomorphism is not obvious in some cases2. Unless malignant osteoid formation is found, as in this case, it is difficult to confirm an osteosarcoma diagnosis without knowing a patient's cancer history. Unfortunately, not all cases present with features as informative as those in the case reported here. Among 29 cases of giant cell-rich osteosarcoma, only 1 case of cutaneous metastasis had been reported in English literature2,3,4. With the histological similarity to giant cell tumors, this case emphasizes the value of careful examination of tumor cell pleomorphism and pathological mitoses when patients present with giant cell-rich tumors.

Management of unsuspected pulmonary embolism in cancer patients

The occurrence of symptomatic pulmonary embolism (PE) causes significant morbidity and mortality. In recent years, the detection of unsuspected PE (UPE) has become increasingly common in patients with cancer. In the absence of convincing evidence that anticoagulation can be safely withheld, current guidelines from the American College of Chest Physicians recommend treating these patients as comparable patients with symptomatic PE. The natural history of cancer patients with UPE has been compared with that of cancer patients with symptomatic PE in five cohort studies so far. In all, 285 patients had UPE, and most of them had received anticoagulant therapy for at least 3 months. Their outcome in terms of recurrences, major bleeding or mortality seem not to differ significantly from the outcome in cancer patients with symptomatic PE. However, the lack of randomized clinical trials and the limited number of observational studies do not allow firm treatment recommendations.

Family History of Cancer in Patients With Gastric Cancer

Family History of Cancer in Patients With Gastric Cancer

Tu1202 Failure to Record a Family History of Familial Cancer in Patients’ Notes is Associated With Early Stage Colorectal Cancer

Tu1202 Failure to Record a Family History of Familial Cancer in Patients’ Notes is Associated With Early Stage Colorectal Cancer

Oncologic emergencies: Pathophysiology, presentation, diagnosis, and treatment

Oncologic emergencies can occur at any time during the course of a malignancy, from the presenting symptom to end-stage disease. Although some of these conditions are related to cancer therapy, they are by no means confined to the period of initial diagnosis and active treatment. In the setting of recurrent malignancy, these events can occur years after the surveillance of a cancer patient has been appropriately transferred from a medical oncologist to a primary care provider. As such, awareness of a patient's cancer history and its possible complications forms an important part of any clinician's knowledge base. Prompt identification of and intervention in these emergencies can prolong survival and improve quality of life, even in the setting of terminal illness. This article reviews hypercalcemia, hyponatremia, hypoglycemia, tumor lysis syndrome, cardiac tamponade, superior vena cava syndrome, neutropenic fever, spinal cord compression, increased intracranial pressure, seizures, hyperviscosity syndrome, leukostasis, and airway obstruction in patients with malignancies. Chemotherapeutic emergencies are also addressed.

Cancer Genetics Evaluation: Barriers to and Improvements for Referral

Despite the availability of cancer susceptibility testing, little information exists regarding physicians' selection and referral of eligible patients. This study provides insight into whom, why, and when physicians refer for cancer genetics evaluation, as well as their comfort level within this role. Eighty-two physicians (51 primary care, 15 gynecology, 11 surgery and 5 oncology) completed a survey (response rate: 34%) regarding cancer genetics referral practices. Of these, 59% reported an awareness of the hospital's cancer genetics program. Program awareness was greater among oncologists, surgeons, and gynecologists than among primary care physicians (p < 0.0001). Patients were referred for enhanced risk assessment (88%), improved medical management (85%), and concern for family members (83%). Patient eligibility was based on family cancer history (96%), patient cancer history (83%), and patient request (73%). Patients were not referred mainly due to patient disinterest (54%) or physician concern about either insurance coverage (44%) or insurance discrimination (31%). Primary care physicians were less comfortable with identifying patients for referral (p < 0.001) and with discussing genetics (p < 0.002) than specialists. The largest barriers to referral were lack of program awareness and limited knowledge regarding patient eligibility, improved insurance coverage, and antidiscrimination legislation. Physician-targeted marketing and education may improve the referral process.

Helicobacter pylori infection, but not genetic polymorphism of CYP2E1, is highly prevalent in gastric cancer patients younger than 40 years

Gastric cancers in young adults are thought to be associated with risk factors that include Helicobacter pylori infection and genetic polymorphism. The objective of this study was to elucidate the roles of these risk factors in patients younger than 40 years by analyzing clinicopathological data and H. pylori infection, and using molecular epidemiologic techniques. Clinicopathological features, the presence of H. pylori infection, endoscopic characteristics of gastritis, genetic polymorphism of P4502E1 (CYP2E1), and family history of cancer in patients with gastric cancer treated surgically at Nippon Medical School Hospital from 1991 to 2004 were analyzed, based on our medical database. Gastric cancer in those younger than 40 years was characterized by a predominance of female patients with poorly differentiated adenocarcinoma who had undergone total gastrectomy with extended lymphadenectomy. H. pylori infection had a higher prevalence in patients with gastric cancer than in patients with normal endoscopic results or chronic gastritis, especially in those younger than 40 years (odds ratio, 13.7). Atrophic gastritis, nodular gastritis, and rugal hyperplastic gastritis were observed by endoscopy as H. pylori-associated gastritis. No difference in the incidence of either CYP2E1 genetic polymorphism or a family history of cancer was observed among different age groups. Gastric cancer in patients younger than 40 years is closely associated with H. pylori infection, but not with genetic characteristics. Eradication therapy for H. pylori and endoscopic examination of H. pylori-positive young adults may be anticipated to be adopted as a strategy for the prevention and/or early detection of cancer.