Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers

…, F Feleppa, LI Huschtscha, HJ Thorne, KconFab… - Nature medicine, 2009 - nature.com
Basal-like breast cancers arising in women carrying mutations in the BRCA1 gene,
encoding the tumor suppressor protein BRCA1, are thought to develop from the mammary …

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23. 2

…, A Ziogas, IL Andrulis, JA Knight, kConFab… - Nature …, 2009 - nature.com
Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility
loci, but these explain only a small fraction of the familial risk of the disease. Five of these …

A single‐cell RNA expression atlas of normal, preneoplastic and tumorigenic states in the human breast

…, N Tubau Ribera, S Wilcox, GB Mann, kConFab… - The EMBO …, 2021 - embopress.org
To examine global changes in breast heterogeneity across different states, we determined
the single‐cell transcriptomes of> 340,000 cells encompassing normal breast, preneoplastic …

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general …

…, C Cybulski, AB Spurdle, H Holland, Kconfab… - Nature …, 2010 - nature.com
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this
risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 …

[HTML][HTML] Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

…, DYH Choong, RW Tothill, H Thorne, kConFab… - 2012 - journals.plos.org
Despite intensive efforts using linkage and candidate gene approaches, the genetic etiology
for the majority of families with a multi-generational breast cancer predisposition is unknown …

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

…, J Beesley, X Chen, H Holland, kConFab… - Human molecular …, 2011 - academic.oup.com
Breast cancers demonstrate substantial biological, clinical and etiological heterogeneity. We
investigated breast cancer risk associations of eight susceptibility loci identified in GWAS …

A Single Nucleotide Polymorphism in the 5′ Untranslated Region of RAD51 and Risk of Cancer among BRCA1/2 Mutation Carriers

…, M Daly, H Levavi, H Pierce, A Chetrit, kConFab… - … Biomarkers & Prevention, 2001 - AACR
RAD51 colocalizes with both BRCA1 and BRCA2, and genetic variants in RAD51 would be
candidate BRCA1/2 modifiers. We searched for RAD51 polymorphisms by sequencing 20 …

[HTML][HTML] Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

…, J Beesley, X Chen, S Healey, kConFab… - PLoS …, 2011 - journals.plos.org
Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue
organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers …

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

…, PA James, E Thompson, kConFab… - Human molecular …, 2015 - academic.oup.com
Numerous genetic factors that influence breast cancer risk are known. However,
approximately two-thirds of the overall familial risk remain unexplained. To determine …

[HTML][HTML] Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

…, AB Spurdle, X Chen, H Holland, kConFab… - PLoS …, 2010 - journals.plos.org
The considerable uncertainty regarding cancer risks associated with inherited mutations of
BRCA2 is due to unknown factors. To investigate whether common genetic variants modify …