Breast cancer is the second most frequently occurring form of cancer and is also the second most lethal cancer in women worldwide. A genetic mutation is one of the key factors that …
Deficiency in BRCA-dependent DNA interstrand crosslink (ICL) repair is intimately connected to breast cancer susceptibility and to the rare developmental syndrome Fanconi …
DE Goldgar, DF Easton, AM Deffenbaugh… - The American Journal of …, 2004 - cell.com
Many sequence variants in predisposition genes are of uncertain clinical significance, and classification of these variants into high-or low-risk categories is an important problem in …
Background: BRCA1 and BRCA2 are the two major susceptibility genes involved in hereditary breast cancer. This study was undertaken to provide reliable population-based …
JA Clapperton, IA Manke, DM Lowery, T Ho… - Nature structural & …, 2004 - nature.com
Germline mutations in the BRCA1 tumor suppressor gene often result in a significant increase in susceptibility to breast and ovarian cancers. Although the molecular basis of …
The BRCT repeats in BRCA1 are essential for its tumor suppressor activity and interact with phosphorylated protein targets containing the sequence pSer-XX-Phe, where X indicates …
MS Lee, R Green, SM Marsillac, N Coquelle… - Cancer research, 2010 - AACR
Genetic screening of the breast and ovarian cancer susceptibility gene BRCA1 has uncovered a large number of variants of uncertain clinical significance. Here, we use …
E Lee, R McKean-Cowdin, H Ma, DV Spicer… - Journal of Clinical …, 2011 - ascopubs.org
Purpose Triple-negative breast cancers (TNBCs) are tumors with low or no expression of estrogen receptor, progesterone receptor, or human epidermal growth factor receptor 2 …
O Díez, A Osorio, M Durán… - Human …, 2003 - Wiley Online Library
We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them males) with breast cancer for germ‐line mutations in the BRCA1 and BRCA2 …