A guide for functional analysis of BRCA1 variants of uncertain significance

GA Millot, MA Carvalho, SM Caputo… - Human …, 2012 - Wiley Online Library
Germline mutations in the tumor suppressor gene BRCA1 confer an estimated lifetime risk of
56–80% for breast cancer and 15–60% for ovarian cancer. Since the mid 1990s when …

[HTML][HTML] Characterization of potential driver mutations involved in human breast cancer by computational approaches

BK Rajendran, CX Deng - Oncotarget, 2017 - ncbi.nlm.nih.gov
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 …

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

SL Sawyer, L Tian, M Kähkönen, J Schwartzentruber… - Cancer discovery, 2015 - AACR
Deficiency in BRCA-dependent DNA interstrand crosslink (ICL) repair is intimately
connected to breast cancer susceptibility and to the rare developmental syndrome Fanconi …

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

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 …

Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer

N Loman, O Johannsson… - Journal of the …, 2001 - academic.oup.com
Background: BRCA1 and BRCA2 are the two major susceptibility genes involved in
hereditary breast cancer. This study was undertaken to provide reliable population-based …

Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer

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 …

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1

RS Williams, MS Lee, DD Hau… - Nature structural & …, 2004 - nature.com
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 …

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays

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 …

Characteristics of Triple-Negative Breast Cancer in Patients With a BRCA1 Mutation: Results From a Population-Based Study of Young Women

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 …

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

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 …