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Susan M. Domchek

Researcher at University of Pennsylvania

Publications -  501
Citations -  37655

Susan M. Domchek is an academic researcher from University of Pennsylvania. The author has contributed to research in topics: Breast cancer & Cancer. The author has an hindex of 83, co-authored 439 publications receiving 30495 citations. Previous affiliations of Susan M. Domchek include Brigham and Women's Hospital & Cancer Council Victoria.

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Breast Cancer Risk Among Male BRCA1 and BRCA2 Mutation Carriers

TL;DR: The relative risks of developing breast cancer were highest for men in their 30s and 40s and decreased with increasing age, and both the relative and cumulative risks were higher for BRCA2 mutation carriers than forBRCA1 mutation carriers.
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NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.

TL;DR: These NCCN Guidelines Insights summarize the panel's discussion and most recent recommendations regarding criteria for high-penetrance genes associated with breast and ovarian cancer beyond BRCA1/2, pancreas screening and genesassociated with pancreatic cancer, genetic testing for the purpose of systemic therapy decision-making, and testing for people with Ashkenazi Jewish ancestry.
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International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers.

Kelly A. Metcalfe, +46 more
TL;DR: Nearly one‐half of the women at risk for breast cancer had taken no preventive option, relying solely on screening, and there were large differences in the uptake of the different preventive options by country of residence.
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A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

Antonis C. Antoniou, +182 more
- 01 Oct 2010 - 
TL;DR: Five SNPs on 19p13 were associated with breast cancer risk and an association with estrogen receptor–positive disease in the opposite direction was identified andotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association.