Female Breast Cancer Research Articles

Germline sequence variation in Rwandan patients with breast and prostate cancer.

10591 Background: Clinically relevant cancer genetic data from Sub-Saharan Africa (SSA) are limited, despite the observation that cancers in this region are frequently diagnosed at an early age and follow an aggressive course. A prospective pilot study was undertaken to explore the feasibility of implementing germline genetic testing (GGT) and counseling in breast and prostate cancer patients in Rwanda. Methods: Consecutive female breast (FBC), male breast (MBC) and prostate (PC) cancer patients from hospitals in Rwanda underwent GGT. Demographic, disease, and treatment information were collected. A commercial 84-gene multi-cancer panel (Invitae Corp.) was used to identify pathogenic variants (PV) and variants of uncertain significance (VUS). Descriptive statistics were utilized. Results: 342 total patients underwent GGT: PV were observed in 32/175 (18.3%) FBC, 7/161 (4.3%) PC, and 1/6 (16.7%) MBC patients. PV were most frequently identified in BRCA2: FBC (n=14), MBC (n=1), PC (n=2). BRCA1 was almost common in FBC (n=11). The majority of PV in FBC cases were in established breast cancer susceptibility genes (94%), while 43% of PV in PC involved PC susceptibility genes. Notably, of 40 total PV identified, 35 (88%) were in DNA damage repair (DDR) genes. 224 patients (65%) had > 1 VUS in the absence of a PV finding, including 109 (68%) in PC and 115 (64%) in FBC/MBC combined. Recurrent PV were observed in BRCA1, BRCA2, or ATM in apparently unrelated FBC cases. Conclusions: The high proportion of PV, observed in these Rwandan breast and prostate cancer cases, particularly in DDR genes, suggest that GGT should be more routinely implemented into cancer care and prevention strategies in this population. More widespread GGT may also help to resolve the high VUS rates. The recurrent variants identified warrant further investigation into founder effects. [Table: see text]

Stat Bite: Estimated cumulative risk of female breast cancer incidence and mortality (ages 0-74) in 2022

Stat Bite: Estimated cumulative risk of female breast cancer incidence and mortality (ages 0-74) in 2022

The Effects of Physical Activity on Gene-Specific Methylation of Antioxidant and Tumour Suppressor Genes in Post-surgery Female Breast Cancer Patients Undergoing Medical Treatment

The Effects of Physical Activity on Gene-Specific Methylation of Antioxidant and Tumour Suppressor Genes in Post-surgery Female Breast Cancer Patients Undergoing Medical Treatment

Clinical features and outcomes of patients with breast cancer with leptomeningeal carcinomatosis.

e13162 Background: Leptomeningeal carcinomatosis (LMC) is a rare, but deadly complication in breast cancer, with prior studies showing median overall survival (OS) of 15 weeks. There is a paucity of data on histologic and receptor subtype-specific survival, and there is no standard of care currently for treatment of LMC in breast cancer. We reviewed the outcomes of a contemporary cohort of breast cancer patients (pts) with LMC. Methods: This is a single-institution retrospective analysis of 38 female breast cancer pts diagnosed with LMC between 2016-2023, based on radiographic features and/or positive cerebrospinal fluid (CSF) cytology or CSF circulating tumor cells (CTCs). Patients consented to share information with a research biorepository, and we conducted a chart review of their clinical features and OS with LMC. Results: 25 pts (65.8%) had invasive ductal carcinoma (IDC), 7 pts (18.4%) had invasive lobular carcinoma (ILC), 4 (10.5%) had metaplastic carcinoma, and 2 (5.3%) had mixed IDC/ILC. 22 pts (57.9%) had triple-negative breast cancer (TNBC), 12 (31.6%) had estrogen receptor positive (ER+)/human epidermal growth factor receptor 2 negative (HER2-), and 4 (10.5%) had HER2+ disease. Median age at LMC diagnosis was 50 years. Median time between Stage IV and LMC diagnosis was 11 months. Pts received a median of 2 lines of systemic therapy for metastatic disease prior to LMC diagnosis. 11 pts (28.9%) had parenchymal brain metastasis prior to LMC diagnosis. 32 pts (84.2%) had signs of LMC on Magnetic Resonance Imaging of the brain and/or spine at diagnosis. 25 pts underwent CSF cytology and 13 pts underwent CSF CTC evaluation at LMC diagnosis; 14/25 pts (56%) had positive CSF cytology and 10/13 pts (76.9%) had detectable CSF CTCs. 21 pts (55.3%) underwent whole-brain radiotherapy, and 2 pts (5.3%) received proton craniospinal irradiation. 21 pts (55.3%) received IT therapy. 27 pts (71.1%) received at least 1 line of systemic therapy post-LMC diagnosis. Median OS between LMC diagnosis and death or last oncology follow up for the entire cohort was 5 months (range 0-57 months, 95% CI 3.0-8.0). There was a significant difference in median OS with LMC by receptor subtype: TNBC 3.5 months, ER+/HER2- 8 months, and HER2+ 23 months (p=0.0047). Two HER2+ pts survived ≥ 3 years post-LMC diagnosis with anti-HER2 antibody-drug conjugates and tyrosine kinase inhibitors +/- stereotactic radiosurgery (SRS) to parenchymal brain metastases. Amongst 9 pts with ER+/HER2-low disease, longer survival with LMC (≥ 16 months) was observed with trastuzumab deruxtecan, IT topotecan +/- IT trastuzumab, and SRS to parenchymal brain metastases. Conclusions: This study highlights heterogeneity in outcomes amongst breast cancer pts with LMC by receptor subtype, as well as improvement in outcomes for selected pts treated with novel therapeutics and a multidisciplinary approach. Larger prospective studies are needed to inform treatment paradigms for LMC.

Study the Correlation of Zearalenone with Prevalence of Breast Cancer in Al-Najaf Province, Iraq

Abstract Background: This study aimed to investigate the concentration of ZAN in female breast cancer patients compared to a control group. Objectives: The objective of this study was to determine the concentration of ZAN and its association with breast cancer in female patients treated at the National Educational Oncology Hospital in the Al-Najaf Province. Materials and Methods: A total of 40 female breast cancer patients who were treated at the National Educational Oncology Hospital in the Al-Najaf Province between April and August 2022 were included in the study. Additionally, 20 healthy females served as the control group. High-performance liquid chromatography (HPLC) was used to quantitatively diagnose the ratio of ZAN in the 40 breast cancer cases with positive results. Serum samples were collected in sterile Eppendorf tubes and analyzed using HPLC to determine the concentration of ZAN. Relevant patient information, including age ranges, was recorded in data sheets. Results: The results revealed a significant increase (P < 0.05) in ZAN concentrations among the breast cancer patients compared to the control group. The concentrations of ZAN were measured at 0.345394 and 0.220381 ng/mL, respectively, indicating higher ZAN levels in the breast cancer patient group. Conclusion: This study provides evidence of a significant association between ZAN concentration and breast cancer in female patients treated at the National Educational Oncology Hospital in the Al-Najaf Province. These findings contribute to the understanding of the role of ZAN in breast cancer development. Further research is warranted to explore the mechanisms underlying this relationship and potentially develop targeted interventions.

Imaging the Male Breast: Gynecomastia, Male Breast Cancer, and Beyond.

The number of men undergoing breast imaging has increased in recent years, according to some reports. Most male breast concerns are related to benign causes, most commonly gynecomastia. The range of abnormalities typically encountered in the male breast is less broad than that encountered in women, given that lobule formation rarely occurs in men. Other benign causes of male breast palpable abnormalities with characteristic imaging findings include lipomas, sebaceous or epidermal inclusion cysts, and intramammary lymph nodes. Male breast cancer (MBC) is rare, representing up to 1% of breast cancer cases, but some data indicate that its incidence is increasing. MBC demonstrates some clinical features that overlap with those of gynecomastia, including a propensity for the subareolar breast. Men with breast cancer tend to present at a later stage than do women. MBC typically has similar imaging features to those of female breast cancer, often characterized by an irregular mass that may have associated calcifications. Occasionally, however, MBC has a benign-appearing imaging phenotype, with an oval shape and circumscribed margins, and therefore most solid breast masses in men require tissue diagnosis. Histopathologic evaluation may alternatively reveal other benign breast masses found in men, including papillomas, myofibroblastomas, and hemangiomas. Radiologists must be familiar with the breadth of male breast abnormalities to meet the rising challenge of caring for these patients. ©RSNA, 2024 Supplemental material is available for this article.

Early integrated rehabilitation and vocational rehabilitation in 435 patients with breast cancer: A comparison between the intervention group and control group in a prospective study.

11007 Background: Return to work is beneficial both for breast cancer (BC) patients and for society. This study explored the impact of early integrated and vocational rehabilitation on sick leave and disability one year after the start of cancer treatment in BC patients. Methods: The subjects of our prospective study were 435 employed female BC patients (26-65 (mean 52) years of age), who participated in the pilot study on the individualized integrated rehabilitation in 2019-2022 and were followed for at least one year. There were 211 patients in the control group and 224 in the intervention group. The patients completed three questionnaires (EORTC QLQ - C30, B23, and NCCN): before, half and one year after the start of cancer treatment. The control group received the standard rehabilitation programme, offered to all BC patients before the start of the study. The multidisciplinary rehabilitation team reviewed the documentation of the patients from the intervention group before, half and one year after the start of treatment and recommended appropriate interventions according to the patient's needs in compliance with the institute’s new clinical pathway (psychologist, general practitioner, nutritional treatment, physical rehabilitation, kinesiologist-guided online exercises, gynaecologist, analgesia, vocational rehabilitation). Data on the patients’ demographics and needs reported in questionnaires, the extent of the disease and cancer treatment were collected. These data and the frequency of sick leave and disability retirement one year after the start of treatment in both groups of patients were analysed using the chi-square and ANOVA test. Results: The patients from the intervention group had 50 calendar days shorter sick leave compared to the control group (p = 0.002). Patients without metastatic disease from the intervention group had 52 calendar days shorter sick leave compared to the control group (p = 0.002). The intervention group treated with chemotherapy had 43 calendar days shorter sick leave compared to the control group (p = 0.029). The difference in sick leave of the group of patients who did not receive chemotherapy was statistically borderline significant (50 calendar days, p = 0.053). The patients in the intervention group had a better work ability (p < 0.001) and less disability (p < 0.001) than the patients in the control group one year after the start of treatment. Conclusions: One year after the beginning of cancer treatment, patients from the intervention group had shorter sick leave, better work ability, and a lower proportion of disability compared to the control group.

Prognostic value of Oncotype recurrence score (RS) and Mammaprint (MP) in premenopausal patients with hormone positive (HR+) breast cancer (BC) with low genomic risk, stratified by race: A study of the National Cancer Database (NCDB).

551 Background: It is hypothesized that in African American (AA) women, RS has a lower prognostic accuracy. We evaluated this with a large population based national database. Methods: The 2021 NCDB PUF was used to include premenopausal female BC patients aged 18-50 years. Inclusion criteria were N0, M0 patients with any T stage, RS ≤ 15 or MP low risk, estrogen or progesterone receptor+ and HER2-. Patients were stratified by their recorded race (Caucasians vs AA). Univariate analysis was used to study the distribution. Kaplan-Meier (KM) and multivariate (MV) propensity score (PS) weighted Cox model were used to compare survival between the cohorts. Results: 27523 patients had an RS≤15 [Caucasian-25227(91.66%) AA-2296(8.34%)] and 4818 had MP low [Caucasian-4393(91.18%) AA-425(8.82%)]. >99% had regional lymph node surgery and >90% of the patients did not get chemotherapy. >70% of the patients were T1. Majority did get hormonal therapy (HT) [RS≤15 Caucasian-92.97% AA-91.81%, MP low- Caucasian-92.42% AA-89.65%]. On analyzing grade, AA had more poorly differentiated tumors [RS≤15 Caucasian-6.18% AA-9.46% p=<0.001 MP low- Caucasian-9.1% AA-16.02% p=<0.001]. KM survival estimates for RS≤15 at 5 years [Caucasian-99.3(99.2,99.5) %, AA-98.8(98.0,99.3) %] were similar and 10 years [Caucasian-97.5(97.0,97.9) %, AA-94.6(91.6,96.6)] showed a small difference. For MP low, the survival at 5 years [Caucasian- 99.0(98.6,99.3) %, AA-98.9(97.0,99.6) %] and 10 years [Caucasian- 97.0(95.9,97.8) %, AA-95.8(91.0,98.1) %] were almost equal. Adjusted Hazard Ratio estimate for Caucasian vs AA for RS≤15 did not reach significance overall [0.802 (95% CI 0.47-1.37)] nor when stratified by grade, histology, or T stage. Conclusions: Through our analysis, we show that there was no major difference in overall survival between Caucasians and AA among low genomic risk, premenopausal, hormone positive, N0 BC patients. There was a 2.9% difference between the racial groups at 10 years, but this was not seen in the adjusted analysis. The results show that genomic scores like RS and MP retain their prognostic utility even in the low-risk spectrum in both Caucasians and AAs. These results differ from other database studies, where the utility of these tools in the low-risk AA groups were questionable. Confounding associated with retrospective studies could be contributing to this and the predictive ability of genomic scores in varied racial groups needs to be analyzed in prospective models.

Public awareness of the association between the risk of breast cancer (BC) development and alcohol consumption (AC) among women aged 18–75 years.

e22547 Background: Worldwide, 4·4% of all new cases of female BC are attributable to alcohol use. Alcohol is recognized as a group 1 carcinogen, as classified by the International Agency for Research on Cancer. However, public awareness of the association remains low. We aim to look at the awareness of the association between AC and the risk of BC development among female employees of a community hospital in the United States. Methods: We sent an 8-item survey to 100 randomly selected adult females working in a community hospital via an online link. The survey was voluntary, with no incentives. We captured the following measures: age, alcohol use, awareness of AC as a BC risk factor, education level, screening for BC, and personal or family history(FH) of BC. Analyses examined correlates of associations between awareness and conceptual predictors. Results: Sixty females (60% response rate) responded to the survey. The age groups were: 28%(17): 18-39 years, 25%(15): 40-49 years, and 47%(28): 50-75 years. 22%(13) had a graduate(Gr), 56%(34) had an undergraduate(UG), and 22% (13) had a high school level of education. 33% (20/60) consumed alcohol. 61% (37/60) did not consider AC as a risk factor(RF) for BC development. 54% with Gr, 62% with UG, and 71% with a high school level of education did not consider AC to be a RF for BC. 41% among 18-39, 67% among 40-49, and 72% among 50-75 year-olds did not consider AC an RF for BC. 92% (55/60) never received education about the association of BC with alcohol intake. 23% with Gr, 5% with UG, and 0% with high school received education about the association of Alcohol and BC. 86% of 40-49 years and 75% of 50-75 years had undergone screening mammograms in the last three years. Mammogram rates were 75% in women with positive FH, compared to 45% without positive FH. Conclusions: The results revealed a low level of awareness of the risk of alcohol use with BC, with just 40% of females considering it as a risk factor. Younger age and higher academic levels were the variables that had the strongest association with better awareness. A further lower level of education was reported, with more than 90% never having received education about the association. We must orchestrate awareness of this association with attention to individuals with lower educational levels.

BRCAFem: A database for breast cancer research.

Amid extensive breast cancer research, valuable data and findings often remain scattered across published literature, databases and web resources, posing challenges for researchers and practitioners in curating specific datasets, genes and relevant information. Hence, we developed BRCAFem (BReast CAncer of Females), an integrated database for breast cancer research. BRCAFem includes 1220 breast cancer genes, 82 FDA-approved breast cancer prevention and treatment drugs and 33 sequencing and imaging datasets. Additionally, BRCAFem provides general information about breast cancer, global statistics, risk factors, treatment options and blogs related to recent updates in breast cancer research.

Evaluation of sarcopenia-associated survival in breast cancer with computed tomography-based pectoral muscle area measurements

Objective: Breast cancer is the most common and deadly female cancer. In breast cancer cases, survival is closely related to muscle mass, which is one of the components of body composition. Our aim was to investigate the usefulness of computed-tomography (CT)- based pectoral muscle measurements in detecting sarcopenia in patients with non-metastatic breast cancer and the relationship of these measurements with survival. Patients and Methods: Our study included 62 adult female breast cancer cases diagnosed with breast cancer between January 2012 and January 2018 and without metastasis in positron emission tomography/CT (PET/CT) examination obtained for pre-treatment staging. To evaluate sarcopenia, skeletal muscle index (SMI) and pectoral muscle index (PMI) were calculated by measuring pectoral muscle area and skeletal muscle area at L3 vertebra level on PET/CT images. Results: Deceased patients were significantly older (Median=73.90, IQR=27.04) than surviving patients (Median=54.60, IQR=13.37, p=0.025) and were diagnosed with cancer later in life (Median=63.92 IQR=30.16’ vs. Median=47.51 IQR=15.0, p=0.030). When the threshold of 31 cm2/m2 was selected, there was a statistically significant difference in survival between sarcopenic and non-sarcopenic groups (p=0.031). Conclusion: In conclusion, the presence of sarcopenia in female breast cancer cases is a parameter that affects survival and can be measured using radiological imaging methods. In addition to the measurements accepted in the literature regarding sarcopenia, pectoral muscle measurements can be chosen as an alternative method in the diagnosis of sarcopenia.

Diabetes and further risk of cancer: a nationwide population-based study

BackgroundIndividuals with diabetes have a significantly higher risk of developing various forms of cancer, and the potential biological links between these two diseases are not completely understood.MethodsThis was a longitudinal retrospective nationwide cohort study, a study design that allows us to examine the natural course of cancer development over an extended period of time with a large sample size. Initially, 3,111,975 and 22,208,395 eligible patients aged ≥ 20 years with and without diabetes, respectively, were matched by age, sex, and the Charlson comorbidity index. Ultimately, 1,751,457 patients were selected from each group. Stratified populations for diabetic retinopathy (DR) (n = 380,822) and without DR (n = 380,822) as well as proliferative DR (PDR) (n = 141,150) and non-proliferative DR (NPDR) (n = 141,150) were analyzed in this study. The main outcome measure was the first-time diagnosis of cancer during the follow-up period.ResultsWe observed a 20% higher risk of total cancer incidence [hazard ratios (HR), 1.20; p < 0.001] in the diabetes cohort compared to the non-diabetes cohort. The highest HR was observed for liver and pancreas cancers. Moderately increased risks were observed for oral, colon, gallbladder, reproductive (female), kidney, and brain cancer. Furthermore, there was a borderline significantly increased risk of stomach, skin, soft tissue, female breast, and urinary tract (except kidney) cancers and lymphatic and hematopoietic malignancies. The stratified analysis revealed that the total cancer incidence was significantly higher in the DR cohort compared to the non-DR cohort (HR, 1.31; p < 0.001), and there was a borderline increased risk in the PDR cohort compared to the NPDR cohort (HR, 1.13; p = 0.001).ConclusionsThis study provides large-scale, nationwide, population-based evidence that diabetes is independently associated with an increased risk of subsequent development of total cancer and cancer at specific sites. Notably, this risk may further increase when DR develops.

Association between Metabolic-Dysfunction-Associated Steatotic Liver Disease and Hepatic Cancer: Current Concepts and Future Challenges.

Background: This study systematically reviewed the association between metabolic-dysfunction-associated steatotic liver disease (MASLD) and the development of hepatic cancer. Previous research has highlighted MASLD as a predisposing condition. Aim: To collect recent global data on the relationship between MASLD and hepatic cancer. Methods: A systematic review was conducted, which included an analysis of studies on the relationship between MASLD and the incidence of hepatic cancers, focusing on the role of fibrosis and MASLD severity as predictors of cancer risk. Following standard methodological frameworks for the assessment of longitudinal studies, the review gathered information on fibrosis scores, hepatocellular carcinoma (HCC) incidence, and other types of hepatic neoplasms. Results: A total of 522 studies were initially identified, of which 6 studies were appropriate for the review. They collectively revealed that the stage of fibrosis in MASLD is a significant independent predictor of mortality and liver-related events, with higher fibrosis stages correlating with greater risk. Longitudinal data showed that increases in FIB-4 scores were linked to a higher risk of developing HCC and cirrhosis. MASLD was also associated with an increased risk of non-hepatic cancers such as colorectal cancer in males and breast cancer in females. The severity of MASLD was found to be a modifiable risk factor for biliary tract cancer (BTC), with the risk further amplified by diabetes. Moreover, lifestyle factors and comorbidities, such as smoking and diabetes, were identified as modifiers of cancer risk in MASLD patients. Conclusions: The systematic review identified the association between MASLD and an elevated risk of hepatic cancer, establishing a clear link between the severity of liver fibrosis and the incidence of HCC and other hepatic neoplasms. This supports the need for screening for hepatic cancer in patients with MASLD, particularly in the presence of advanced fibrosis or other risk-modifying factors.

Emergency department involvement in the diagnosis of cancer among older adults: a SEER-Medicare study.

Internationally, 20% to 50% of cancer is diagnosed through emergency presentation, which is associated with lower survival, poor patient experience, and socioeconomic disparities, but population-based evidence about emergency diagnosis in the United States is limited. We estimated emergency department (ED) involvement in the diagnosis of cancer in a nationally representative population of older US adults, and its association with sociodemographic, clinical, and tumor characteristics. We analyzed Surveillance, Epidemiology, and End Results Program-Medicare data for Medicare beneficiaries (≥66 years old) with a diagnosis of female breast, colorectal, lung, and prostate cancers (2008-2017), defining their earliest cancer-related claim as their index date, and patients who visited the ED 0 to 30 days before their index date to have "ED involvement" in their diagnosis, with stratification as 0 to 7 or 8 to 30 days. We estimated covariate-adjusted associations of patient age, sex, race and ethnicity, marital status, comorbidity score, tumor stage, year of diagnosis, rurality, and census-tract poverty with ED involvement using modified Poisson regression. Among 614 748 patients, 23% had ED involvement, with 18% visiting the ED in the 0 to 7 days before their index date. This rate varied greatly by tumor site, with breast cancer at 8%, colorectal cancer at 39%, lung cancer at 40%, and prostate cancer at 7%. In adjusted models, older age, female sex, non-Hispanic Black and Native Hawaiian or Other Pacific Islander race, being unmarried, recent year of diagnosis, later-stage disease, comorbidities, and poverty were associated with ED involvement. The ED may be involved in the initial identification of cancer for 1 in 5 patients. Earlier, system-level identification of cancer in non-ED settings should be prioritized, especially among underserved populations.

BECN1 mRNA expression in breast cancer tissue; significant correlation to tumor grade

Breast cancer (BC) is a heterogenous disease with multiple pathways implicated in its development, progression, and drug resistance. Autophagy, a cellular process responsible for self-digestion of damaged organelles, had been recognized as eminent player in cancer progression and chemotherapeutic resistance. The haploinsufficiency of Beclin 1 (BECN1), autophagy protein, is believed to contribute to cancer pathogenesis and progression. In our study, we investigated the expression of BECN1 in a BC female Egyptian patient cohort, as well as its prognostic role through evaluating its association with disease free survival (DFS) after 2 years follow up and association of tumor clinicopathological features. Twenty frozen female BC tissue samples and 17 adjacent normal tissue were included and examined for the expression levels of BECN1. Although the tumor tissues showed lower expression 0.73 (0–8.95) than their corresponding normal tissues 1.02 (0.04–19.59), it was not statistically significant, p: 0.463. BECN1 expression was not associated with stage, nodal metastasis or tumor size, p:0.435, 0.541, 0.296, respectively. However, statistically significant negative correlation was found between grade and BECN1 mRNA expression in the studied cases, p:0.028. BECN1 expression had no statistically significant association with DFS, P = 0.944. However, we observed that triple negative (TNBC) cases had significantly lower DFS rate than luminal BC patients, p: 0.022, with mean DFS 19.0 months, while luminal BC patients had mean DFS of 23.41 months. Our study highlights the potential role of BECN1 in BC pathogenesis, showing that BECN1 expression correlates with poorer differentiation of BC, indicating its probable link with disease aggressiveness. DFS two years follow up showed that TNBC subtype remains associated with less favorable prognosis.

The Prevalence of BRCA1 and BRCA2 Mutations in Breast Cancer Patients

Aim: Genetic mutations in BRCA1 and BRCA2 are crucial for breast cancer risk assessment and treatment planning. Methods: This prospective observational study at Jinnah Postgraduate Medical Centre, Pakistan, involved female breast cancer patients aged 18 or older. The sample size calculation was based on a 3.4% prevalence rate of BRCA mutations, aiming for a 95% confidence level. Data on demographic, clinical characteristics, and genetic testing for BRCA mutations were collected and analyzed using SPSS version 23. Results: Among the study participants, 10% exhibited BRCA1 or BRCA2 mutations. The majority were diagnosed at stage 3 tumor development, with invasive ductal carcinoma being the predominant histological type. No significant familial predisposition to breast cancer was noted among the majority. Educational status and ethnicity showed varying associations with BRCA mutation presence. Conclusion: The study highlights a modest incidence of BRCA mutations among Pakistani breast cancer patients, underscoring the importance of genetic testing for risk assessment and targeted treatment. The findings support the need for comprehensive genetic screening programs in Pakistan, considering the diverse demographic and clinical characteristics of the population. Keywords: BRCA mutations, breast cancer, genetic testing, Pakistan, risk assessment, targeted treatment.

Infrared laser moxibustion for cancer-related fatigue in breast cancer survivors: a randomized controlled trial

BackgroundCancer-related fatigue (CRF) is a pervasive, persistent, and distressing symptom experienced by cancer patients, for which few treatments are available. We investigated the efficacy and safety of infrared laser moxibustion (ILM) for improving fatigue in breast cancer survivors.MethodsA three-arm, randomized, sham-controlled clinical trial (6-week intervention plus 12-week observational follow-up) was conducted at a tertiary hospital in Shanghai, China. The female breast cancer survivors with moderate to severe fatigue were randomized 2:2:1 to ILM (n = 56) sham ILM (n = 56), and Waitlist control (WLC)(n = 28) groups. Patients in the ILM and sham ILM (SILM) groups received real or sham ILM treatment, 2 sessions per week for 6 weeks, for a total of 12 sessions. The primary outcome was change in the Brief Fatigue Inventory (BFI) score from baseline to week 6 with follow-up until week 18 assessed in the intention-to-treat population.ResultsBetween June 2018 and July 2021, 273 patients were assessed for eligibility, and 140 patients were finally enrolled and included in the intention-to-treat analysis. Compared with WLC, ILM reduced the average BFI score by 0.9 points (95% CI, 0.3 to 1.6, P = .007) from baseline to week 6, with a difference between the groups of 1.1 points (95% CI, 0.4 to 1.8, P = .002) at week 18. Compared with SILM, ILM treatment resulted in a non-significant reduction in the BFI score (0.4; 95% CI, -0.2 to 0.9, P = .206) from baseline to week 6, while the between-group difference was significant at week 18 (0.7; 95% CI, 0.2 to 1.3, P = .014). No serious adverse events were reported.ConclusionWhile ILM was found to be safe and to significantly reduce fatigue compared with WLC, its promising efficacy against the sham control needs to be verified in future adequately powered trials.Trial registrationClinicaltrials.gov: NCT04144309. Registered 12 June 2018.

Causal effects and metabolites mediators between immune cell and risk of breast cancer: a Mendelian randomization study.

Introduction: The incidence and mortality of female breast cancer remain high, and the immune microenvironment of breast cancer has undergone significant alterations. However, the impact of blood immune cell levels on the risk of breast cancer is not fully understood. Therefor this study aims to investigate the causal relationship between blood immune cell levels and the risk of breast cancer. Methods: A Mendelian randomization (MR) analysis was employed to assess the causal relationship between immune cells and the risk of breast cancer, as along with their potential mediating factors. Genetic statistics of metabolites breast cancer and immune cells were obtained from the GWAS Catalog, while the genome-wide association study (GWAS) statistics of breast cancer were extracted from the UK biobank. Two-sample MR analysis were performed using inverse-variance weighted (IVW) to ascertain the causal association between immune cells and the risk of breast cancer. Furthermore, 1,400 metabolites were analyzed for their mediating role between immune cells and the risk of breast cancer. Results: MR analysis through IVW method revealed that genetically predicted CD24+ CD27+ B cells were associated with a decreased risk of breast cancer (OR = 0.9978, 95% CI: 0.996-0.999, p = 0.001), while IgD- CD38+ B cells were linked to an increased risk of breast cancer (OR = 1.002, 95% CI: 1.001-1.004, p = 0.005). Additional CD14+ CD16+ monocytes were associated with an increased risk of breast cancer (OR = 1.000, 95% CI: 1.000-1.001, p = 0.005). Mediation analysis revealed a positive causal relationship between IgD- CD38+ B cells and Glycerate levels, with the latter also exhibiting a positive causal relationship with the risk of breast cancer (p < 0.05). Conversely, IgD- CD38+ B cells displayed a negative causal relationship with Succinoyltaurine levels, and the latter also demonstrated a negative causal relationship with the risk of breast cancer (p < 0.05). Conclusion: This MR study provides novel genetic evidence supporting a causal relationship between IgD- CD38+ B cells and the risk of BC. Moreover, it is identified that IgD- CD38+ B cells contribute to an increased risk of BC through both positive and negative mediation effects involving Glycerate and Succinoyltaurine.

Effect of a Long-Term Online Home-Based Supervised Exercise Program on Physical Fitness and Adherence in Breast Cancer Patients: A Randomized Clinical Trial

The purpose of the present study was to analyze the effect of a synchronous-supervised online home-based exercise program (HBG) during 24 weeks on body composition, physical fitness and adherence compared to an exercise recommendation group (ERG) without supervision with patients undergoing breast cancer treatment. Fifty-nine female breast cancer patients (31 in HBG and 28 in the ERG) undergoing cancer treatments participated in the present randomized clinical trial. The exercise program consisted of a 60 min combined resistance and aerobic supervised exercise session (6–8 points on Borg Scale CR-10, moderate intensity), twice a week during 24 weeks. The exercise recommendation group only received general recommendations to comply with the current ACSM guidelines. Body composition and physical fitness were assessed at baseline, 12 weeks and 24 weeks of the program. Adherence to the intervention was measured according to the minutes of exercise completed per session during each week. A general linear model of two-way repeated measures showed significant improvements (p &lt; 0.05) in physical fitness that were observed in the home-based exercise group at the baseline, 12-week and 24-week assessments compared to the exercise recommendation group. Adherence was also higher in the home-based exercise group. However, no changes (p &gt; 0.05) in body composition between groups and moments were observed. In this sense, supervised home-based exercise interventions can be an interesting strategy to improve physical fitness and adherence rates in breast cancer patients undergoing treatment.

Associations of incident female breast cancer with long-term exposure to PM2.5 and its constituents: Findings from a prospective cohort study in Beijing, China

This study aimed to investigate the association between long-term exposure to fine particulate matter (PM2.5) and its constituents (black carbon (BC), ammonium (NH4+), nitrate (NO3−), organic matter (OM), inorganic sulfate (SO42−)) and incident female breast cancer in Beijing, China. Data from a prospective cohort comprising 85,504 women enrolled in the National Urban Cancer Screening Program in Beijing (2013–2019) and the Tracking Air Pollution in China dataset are used. Monthly exposures were aggregated to calculate 5-year average concentrations to indicate long-term exposure. Cox models and mixture exposure models (weighted quantile sum, quantile-based g-computation, and explanatory machine learning model) were employed to analyze the associations. Findings indicated increased levels of PM2.5 and its constituents were associated with higher breast cancer risk, with hazard ratios per 1-μg/m3 increase of 1.02 (95% confidence interval (CI): 1.01, 1.03), 1.39 (95% CI: 1.16, 1.65), 1.28 (95% CI: 1.12, 1.46), 1.15 (95% CI: 1.05, 1.24), 1.05 (95% CI: 1.02, 1.08), and 1.15 (95% CI: 1.07, 1.23) for PM2.5, BC, NH4+, NO3−, OM, and SO42−, respectively. Exposure-response curves demonstrated a monotonic risk increase without an evident threshold. Mixture exposure models highlighted BC and SO42− as key factors, underscoring the importance of reducing emissions of these pollutants.