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Response to Dr. Sorscher
Author(s) -
Lumish Heidi,
Chung Wendy
Publication year - 2017
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-017-0110-y
Subject(s) - family history , penetrance , breast cancer , genetic counseling , population , ovarian cancer , cancer , family medicine , medicine , genetic testing , brca mutation , psychology , genetics , biology , environmental health , gene , phenotype
Thank you very much for your careful reading of our manuscript and your thoughtful comments. You raise two interesting points pertaining to the population tested in our study. For those individuals in our study who had a negative genetic test result, their care was managed based on the National Comprehensive Cancer Network (NCCN) guidelines, as you suggested. Our study, however, was not powered to distinguish between levels of anxiety among patients with different risk profiles. With regard to the penetrance of BRCA1/2, in theory it is possible that the risk for individuals with no personal or family history of breast or ovarian cancer differs from the risk of those with a significant personal or family history of cancer. These two populations could have different types of BRCA1/2mutations (Rebbeck et al. 2015) and/or modifiers at separate loci could also alter the risk conferred by the BRCA1/ 2 mutation (Barnes and Antoniou 2012; Couch et al. 2013; Gaudet et al. 2013; Hamdi et al. 2017). However, participants in our study came through a cancer genetic clinic and were referred for either a personal and/or family history of breast or ovarian cancer. Further research beyond our study will be necessary to address your important points. Heidi Lumish and Wendy Chung. References