All expected pathogenic variants detected inBRCA1/2were reviewed for evidence of a founder effect. This was carried out by manual review of each expected pathogenic variant by a genetic counselor (E.R.S.) in the Human Gene Mutation Database [27], ClinVar, and PubMed utilizing the currently...
BRCA2mutation carriers and those arising in the general population. The majority of breast tumors arising inBRCA1carriers show low or absent expression of estrogen receptor (ER) [1]-[3
The purpose of the present study was to analyze genetic variations in the NBS1 gene and to evaluate the contribution of heterozygous NBS1 mutation to the risk of breast cancer among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation. We screened 235 non-BRCA1/2 ...
Specif- ically, 5383 (67.8%) patients did not have details on which gene (BRCA1 versus BRCA2) was implicated. Further- more, the Optum® EHR database did not provide differ- entiation on whether the BRCAmutation was a somatic or germline variant. Further, while large, we used a ...