Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins

R Prakash, Y Zhang, W Feng… - Cold Spring Harbor …, 2015 - cshperspectives.cshlp.org
Homologous recombination (HR) is a major pathway for the repair of DNA double-strand
breaks in mammalian cells, the defining step of which is homologous strand exchange …

Hereditary breast and ovarian cancer: new genes in confined pathways

FC Nielsen, T van Overeem Hansen… - Nature Reviews …, 2016 - nature.com
Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary
breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC …

BRCA1 and BRCA2: different roles in a common pathway of genome protection

R Roy, J Chun, SN Powell - Nature Reviews Cancer, 2012 - nature.com
The proteins encoded by the two major breast cancer susceptibility genes, BRCA1 and
BRCA2, work in a common pathway of genome protection. However, the two proteins work …

Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers

G Federici, S Soddu - Journal of Experimental & Clinical Cancer Research, 2020 - Springer
The promising expectations about personalized medicine have opened the path to routine
large-scale sequencing and increased the importance of genetic counseling for hereditary …

Homology-directed repair and the role of BRCA1, BRCA2, and related proteins in genome integrity and cancer

CC Chen, W Feng, PX Lim, EM Kass… - Annual review of …, 2018 - annualreviews.org
Germ-line and somatic mutations in genes that promote homology-directed repair (HDR),
especially BRCA1 and BRCA2, are frequently observed in several cancers, in particular …

The effects of deregulated DNA damage signalling on cancer chemotherapy response and resistance

P Bouwman, J Jonkers - Nature Reviews Cancer, 2012 - nature.com
Tumours with specific DNA repair defects can be completely dependent on back-up DNA
repair pathways for their survival. This dependence can be exploited therapeutically to …

[HTML][HTML] BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance

R Drost, P Bouwman, S Rottenberg, U Boon, E Schut… - Cancer cell, 2011 - cell.com
Hereditary breast cancers are frequently caused by germline BRCA1 mutations. The BRCA1
C61G mutation in the BRCA1 RING domain is a common pathogenic missense variant …

Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155

S Chang, RH Wang, K Akagi, KA Kim, BK Martin… - Nature medicine, 2011 - nature.com
BRCA1, a well-known tumor suppressor with multiple interacting partners, is predicted to
have diverse biological functions. However, so far its only well-established role is in the …

A review of a multifactorial probability‐based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

NM Lindor, L Guidugli, X Wang, MP Vallée… - Human …, 2012 - Wiley Online Library
Clinical mutation screening of the BRCA1 and BRCA2 genes for the presence of germline
inactivating mutations is used to identify individuals at elevated risk of breast and ovarian …

Genetically engineered mouse models in cancer research

JC Walrath, JJ Hawes, T Van Dyke, KM Reilly - Advances in cancer …, 2010 - Elsevier
Mouse models of human cancer have played a vital role in understanding tumorigenesis
and answering experimental questions that other systems cannot address. Advances …