Patients and Methods We surveyed 5,080 patients between the ages of 20 and 79 years, diagnosed from July 2013 to August 2015 with early-stage breast cancer and reported to the SEER registries of Georgia and Los Angeles County. Gallagher, S., Hughes, E., Kurian, A. W., Domchek, S. M., Garber, J., Probst, B., Morris, B., Tshiaba, P., Meek, S., Rosenthal, E., Roa, B., Slavin, T. P., Wagner, S., Weitzel, J., Gutin, A., Lanchbury, J. S., Robson, M. Performance of the IBIS/Tyrer-Cuzick model of breast cancer risk by race and ethnicity in the Women's Health Initiative. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. Women with inherited BRCA1/2 mutations are at high risk for breast cancer, which mammography often misses. All tests were 2-sided.Clinicians reported a change in risk management recommendations for 76.6% of patients who tested positive for a pathogenic or likely pathogenic variant, with changes to surveillance being most common (71.1%), followed by surgical (33.6%), chemoprevention (15.1%), and clinical trial (9.4%) recommendations. Patients were included who: 1) had stages I-III breast cancer, either hormone receptor-positive and HER2-negative (HR-positive/HER2-negative) or triple-negative (TNBC), diagnosed in 2013-2017; 2) received chemotherapy; and 3) linked to genetic results. All statistical models and summary estimates were weighted to be representative of the target population.Receipt of CPM was the primary dependent variable for analysis and was measured by a woman's self-report of her treatment.Of the 3631 women selected to receive the survey, 2578 (71.0%) responded and 2402 of these respondents who did not have bilateral disease and for whom surgery type was known constituted the final analytic sample. Liang, S. Y., Richardson, M. T., Wong, D., Chen, T., Colocci, N., Kapp, D. S., de Bruin, M., Kurian, A., Chan, J. K. Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? This regulatory element increases cell-type-specific expression of the tumor suppressor gene IGFBP5 and, thereby, reduces risk of estrogen receptor-positive breast cancer (odds ratio = 0.77, 95% CI 0.74-0.81, p = 3.1 10-31). These hospital and neighborhood characteristics were also associated with BCS without radiation. Daly, M. B., Pilarski, R., Axilbund, J. E., Berry, M., Buys, S. S., Crawford, B., Farmer, M., Friedman, S., Garber, J. E., Khan, S., Klein, C., Kohlmann, W., Kurian, A., Litton, J. K., Madlensky, L., Marcom, P. K., Merajver, S. D., Offit, K., Pal, T., Rana, H., Reiser, G., Robson, M. E., Shannon, K. M., Swisher, E., Voian, N. C., Weitzel, J. N., Whelan, A., Wick, M. J., Wiesner, G. L., Dwyer, M., Kumar, R., Darlow, S. Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. SM users indicated using SM for social support (34.3%) and loneliness (24.6%) more than for information-seeking (15.9%), coping (18.8%), or self-disclosure (14%). Increasingly, patients with breast cancer undergo bilateral mastectomy (BLM). Sensitivity analyses tested a 15-year time horizon and alternative assumptions.Extending tamoxifen therapy duration among women ages 25-49 reduced the lifetime probability of breast cancer death from 11.9% to 9.3% (absolute difference 2.6%). A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. Breast cancer and ovarian cancer patients increasingly undergo germline genetic testing. The Phase Karimi, Y., Purington, N., Liu, M., Kurian, A. W., Sledge, G. W., Blayney, D. W. Linking insurance claims across time to characterize treatment, monitoring, and end-of-life care in metastatic breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P=3.1910-8 and 4.4210-8). More Asians had breast cancer (76 vs. 53%, p=0.03); more whites had relatives with breast cancer (86 vs. 50%, p=0.0003). Multi-step processing, including deep-learning-based segmentation, revealed variability in the composition of tumor-immune populations across individuals, reconciled by overall immune infiltration and enriched co-occurrence of immune subpopulations and checkpoint expression. Meta-analyses were conducted to combine the results from these two datasets.Of those 228 variants, an association was observed for 12 variants in 10 genes at a Bonferroni-corrected threshold of P, View details for DOI 10.1016/j.ebiom.2019.09.006, This study assessed uptake of the Oncotype DX 21-gene assay over time and characterized which sociodemographic and clinical factors are associated with test uptake among women with lymph node-positive (LN+), hormone receptor-positive, HER2-negative breast cancer.Invasive breast cancer cases diagnosed in 2010 through 2013 were included from a SEER database linked to 21-gene assay results performed at Genomic Health's Clinical Laboratory. View details for PubMedID 33426465 She received her medical degree from Harvard Medical School, trained as an intern and resident in Internal Medicine at the Massachusetts General Hospital, and completed her fellowship training in Medical Oncology along with a masters degree in Epidemiology at Stanford University. The minor rs45446698-C allele was associated with lower oestrone-3-glucuronide (-49.2%, 95% CI -56.1% to -41.1%, P=3.110-18); in follow-up analyses, rs45446698-C was also associated with lower progesterone (-26.7%, 95% CI -39.4% to -11.6%, P=0.001) and reduced risk of oestrogen and progesterone receptor-positive breast cancer (OR=0.86, 95% CI 0.82-0.91, P=6.910-8).The CYP3A7*1C allele is associated with reduced risk of hormone receptor-positive breast cancer possibly mediated via an effect on the metabolism of endogenous sex hormones in premenopausal women. We conducted validation studies using the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, N=3,423 IPLC cases) and European Prospective Investigation into Cancer and Nutrition (EPIC, N=4,731 IPLC cases) cohorts and pooled the SPLC risk estimates using random effects meta-analysis.Overall, 163 (2.3%) MEC cases developed a SPLC. In previous reports, polygenic risk modification was reduced for BRCA1 and BRCA2 PV carriers compared with noncarriers, but limited information is available for carriers of CHEK2, ATM, or PALB2 PVs.To examine an 86-SNV polygenic risk score (PRS) for BRCA1, BRCA2, CHEK2, ATM, and PALB2 PV carriers.A retrospective case-control study using data on 150 962 women tested with a multigene hereditary cancer panel between July 19, 2016, and January 11, 2019, was conducted in a commercial testing laboratory. View details for Web of Science ID 000618737701065, View details for Web of Science ID 000618737701241, View details for Web of Science ID 000618737700112, View details for Web of Science ID 000618737700120, View details for Web of Science ID 000618737700114. It is unclear to what extent reductions in the incidence of late-stage cancer could narrow these relative and absolute disparities.We obtained stage- and cancer-specific incidence and survival data from the Surveillance, Epidemiology, and End Results Program for persons aged 50 to 79 years between 2006 and 2015. In this article, we discussed the previously proposed approaches for adaptation of the NGTS coverage framework, highlighted their innovations, and outlined remaining gaps in their ability to assess the features of NGTS. Data were collected from June 1993 to June 2020; data analysis was performed between September 2020 and February 2021.Prevalence of germline PVs in 12 established breast cancer susceptibility genes.Among 3946 Black women (mean [SD] age at diagnosis, 56.5 [12.02] y) and 25287 non-Hispanic White women (mean [SD] age at diagnosis, 62.7 [11.14] y) with breast cancer, there was no statistically significant difference by race in the combined prevalence of PVs in the 12 breast cancer susceptibility genes evaluated (5.65% in Black vs 5.06% in non-Hispanic White women; P=.12). After controlling for clinical factors, care strategies varied significantly by nonclinical factors (median regional income with first-recorded therapy and imaging type, geographic region with these and with imaging frequency and use of tumor markers; P < .0001).Variability in US MBC care is explained by patient and disease factors and by nonclinical factors such as geographic region, suggesting that treatment decisions are influenced by local practice patterns and/or resources. Benchmark Method for Cost Computations Across Health Care Systems: Cost of Care per Patient per Day in Breast Cancer Care. Jagsi, R., Hawley, S. T., Griffith, K. A., Janz, N. K., Kurian, A., Ward, K. C., Hamilton, S., Morrow, M., Katz, S. J. CTC profiles were distinct from those of cancer cell lines, questioning the suitability of such lines for drug discovery efforts for late stage cancer therapy.For the first time, we directly measured high dimensional gene expression in individual CTCs without the common practice of pooling such cells. Satisfaction with chemotherapy decisions was high and did not differ between those who did (mean [SD], 4.3 [0.08] on a 1- to 5-point scale) or did not (4.4 [0.03]) obtain a second opinion (P=.29). PVs were present in 12.7% of breast cancer patients with estrogen and/or progesterone receptor-positive, HER2-negative cancer, 9.8% with HER2-positive cancer, 16.8% with triple-negative breast cancer and 17.2% with ovarian cancer. In the free testing arm, 20 of 56 eligible patients participated (35.7% of eligible respondents) and they invited 28 relatives: 12 relatives enrolled and 10 ordered testing. Financial toxicity subgroups were compared based on a validated grading system.Participants (N=273; 74% breast cancer) averaged 54.65 years (SD=12.08), were 3.42 years (SD=4.20) post-diagnosis, and 33% reported cancer-related change in employment status. and help prevent the tumor from returning. Guidance is needed on managing patients with discrepant variants to support accurate risk assessment. Palesh, O., Tolby, L. T., Hofmeister, E. N., Fisher, S., Solomon, N. L., Sackeyfio, S., Berek, J. S., Kurian, A. W., Cassidy-Eagle, E., Schapira, L. Adherence to the 2020 American Cancer Society Guideline for Cancer Prevention and risk of breast cancer for women at increased familial and genetic risk in the Breast Cancer Family Registry: an evaluation of the weight, physical activity, and alcohol consumption recommendations. Breast Cancer Mortality in African-American and Non-Hispanic White Women by Molecular Subtype and Stage at Diagnosis: A Population-Based Study. Jagsi, R., Griffith, K. A., Kurian, A. W., Morrow, M., Hamilton, A. S., Graff, J. J., Katz, S. J., Hawley, S. T. Intersection of Race/Ethnicity and Socioeconomic Status in Mortality After Breast Cancer. Furthermore, we discuss recent the advances in targeted therapies for TNBC patients with a hereditary predisposition, including the role of poly (ADP-ribose) polymerase (PARP) inhibitors in BRCA1/2 mutation-associated breast cancers. We conducted a multi-center study to characterize the spectra of BRCA mutations in Chinese breast and ovarian cancer patients from Southern China.A total of 651 clinically high-risk breast and/or ovarian cancer patients were recruited from the Hong Kong Hereditary Breast Cancer Family Registry from 2007 to 2011. Undergo germline genetic testing loci at 2q35 undergo bilateral mastectomy ( BLM ) in African-American and Non-Hispanic White by... And rs146023652, significantly associated with BCS without radiation germline genetic testing Care Patient. 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