Clinical management of BRCA1- and BRCA2-associated breast cancer

Characterization ofBRCA1andBRCA2Mutations in a Large United States Sample

“…Thus, the ratio (8) is smaller than 1. This implies that, theoretically, a BF can be smaller than 1 when the RR is greater than 1 when the carriers develop cancer faster early on so that there are fewer of them remaining cancer free in the older population.…”

“…4-6 The screening, counseling, testing, and clinical management of families at high risk for these mutations relies on an accurate characterization of the BRCA1 and BRCA2 genes and particularly on the evaluation of the penetrance (the risk of developing cancer in carriers) and prevalence of mutations in these genes. [7][8][9] Earlier studies from the Breast Cancer Linkage Consortium were conducted on families with four or more members having cancer. 10-13 These studies reported a breast cancer risk of approximately 80% at age 70 years for mutation carriers.…”

Highlight: BRCA1 and BRCA2 proteins in breast cancer

“…BRCA2-associated breast cancers do not display a consistent histopathologic phenotype and are thus distinct from the BRCA1 phenotype (see reviews by Chappuis et al, 2000b;Phillips, reviews by Chappuis et al, 2000). However, it is not clear whether BRCA-associated morphological features have a differential effect on clinical prognosis when compared to sporadic cancers (reviews by Karp, 2000;Lakhani, 2001). A characteristic phenotype might prove useful for selecting individuals for genetic counseling (Lakhani, 2001) and high-risk patients make up a subset to target for genetic counseling, testing, and risk management (review by Ang and Garber, 2001).…”

“…Studies involving large population-based cohorts of breast cancer patients are needed to address many of these issues (Chappuis et al, 1999;Phillips et al, 1999). BRCA-associated cancers are still treated primarily by conventional approaches (Karp, 2000).…”