scholarly journals BRCA1 Mutation Carrier

2020 ◽  
Author(s):  
Keyword(s):  
Mutation Carrier ◽  
Brca1 Mutation ◽  
Brca1 Mutation Carrier

Gene Expression Profiling after Radiation-Induced DNA Damage Is Strongly Predictive of BRCA1 Mutation Carrier Status

2004 ◽  
Vol 10 (3) ◽  
pp. 958-963 ◽  
Author(s):  
Zsofia Kote-Jarai ◽  
Richard D. Williams ◽  
Nicola Cattini ◽  
Maria Copeland ◽  
Ian Giddings ◽  
...  
Keyword(s):  
Gene Expression ◽  
Dna Damage ◽  
Gene Expression Profiling ◽  
Mutation Carrier ◽  
Expression Profiling ◽  
Brca1 Mutation ◽  
Brca1 Mutation Carrier ◽  
Carrier Status ◽  
Radiation Induced

scholarly journals Elevated levels of somatic mutation in a manifesting BRCA1 mutation carrier

2007 ◽  
Vol 13 (4) ◽  
pp. 276-283 ◽  
Author(s):  
Stephen G. Grant ◽  
Rubina Das ◽  
Christina M. Cerceo ◽  
Wendy S. Rubinstein ◽  
Jean J. Latimer
Keyword(s):  
Somatic Mutation ◽  
Mutation Carrier ◽  
Brca1 Mutation ◽  
Brca1 Mutation Carrier

Transitional Cell Ovarian Carcinoma in a BRCA1 Mutation Carrier

2002 ◽  
Vol 99 (5, Part 2) ◽  
pp. 944-946
Author(s):  
Gautam G. Rao ◽  
Raheela Ashfaq ◽  
John O. Schorge
Keyword(s):  
Ovarian Carcinoma ◽  
Mutation Carrier ◽  
Brca1 Mutation ◽  
Transitional Cell ◽  
Brca1 Mutation Carrier

Abstract 3279: Potential beneficial effects of the BRCA1 mutation carrier state on bone strength

2012 ◽  
Author(s):  
Ying Liu ◽  
Hai-Yun Yen ◽  
Yankel Gabet ◽  
Nancy Wu ◽  
Malcolm C. Pike ◽  
...  
Keyword(s):  
Bone Strength ◽  
Mutation Carrier ◽  
Brca1 Mutation ◽  
Carrier State ◽  
Brca1 Mutation Carrier ◽  
Beneficial Effects

scholarly journals Physicians’ Experiences With BRCA1/2 Testing in Community Settings

2008 ◽  
Vol 26 (35) ◽  
pp. 5789-5796 ◽  
Author(s):  
Nancy L. Keating ◽  
Kathryn A. Stoeckert ◽  
Meredith M. Regan ◽  
Lisa DiGianni ◽  
Judy E. Garber
Keyword(s):  
Risk Management ◽  
Cancer Risk ◽  
Mutation Carrier ◽  
Prophylactic Mastectomy ◽  
Brca1 Mutation ◽  
The United States ◽  
Geographic Region ◽  
Brca1 Mutation Carrier ◽  
Medical Oncologists ◽  
Cancer Risk Management

Purpose We surveyed a national sample of nonacademic physicians who ordered BRCA1/2 testing to understand their implementation of genetic testing and to assess recommendations for surveillance and cancer risk management of women with positive test results. Patients and Methods We surveyed physicians (N = 611 of 1,050; response rate, 58.2%) practicing in nonacademic settings who ordered BRCA1/2 testing during 2004 to 2005. We described physicians’ experiences with testing and used multivariable regression models to identify factors associated with more complete counseling and with recommendations for cancer risk management for a BRCA1 mutation carrier. Results Most physicians (68.2%) usually or always discussed six counseling items before testing. In adjusted analyses, physicians who were assisted by genetic counselors, nurse geneticists, or others (v counseling by themselves), those who spent more than 60 minutes in counseling, and medical oncologists (v surgeons or geneticists) were more likely to discuss all six items (all P < .05). A total of 61.4% of physicians would recommend bilateral prophylactic mastectomy to a 38-year-old BRCA1 mutation carrier who had completed childbearing. After adjustment, geneticists and gynecologists were less likely than medical oncologists and surgeons to recommend prophylactic mastectomy (P < .001), as were physicians in the Northeast versus those in other regions of the United States (P = .01). Conclusion Community-based physicians seem to be successfully incorporating BRCA1/2 testing into their practices. Physicians’ recommendations for surveillance of mutation carriers are generally consistent with practice guidelines, yet recommendations for preference-based procedures such as prophylactic mastectomy vary by physician characteristics such as specialty and geographic region. The providers whom patients see for testing may contribute to variations in prophylactic treatments.

scholarly journals Association of radiotherapy with preferential depletion of luminal epithelial cells in a BRCA1 mutation carrier

2012 ◽  
Vol 1 (1) ◽  
pp. 31 ◽  
Author(s):  
Huai-Chin Chiang ◽  
Sreejith J Nair ◽  
I-Tien Yeh ◽  
Alfredo A Santillan ◽  
Yanfen Hu ◽  
...  
Keyword(s):  
Epithelial Cells ◽  
Mutation Carrier ◽  
Brca1 Mutation ◽  
Brca1 Mutation Carrier ◽  
Luminal Epithelial Cells
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