The interaction of PP1 with BRCA1 and analysis of their expression in breast tumors
BMC Cancer, 2007 Background The breast cancer susceptibility gene, BRCA1, is implicated in multiple cellular processes including DNA repair, the transactivation of genes, and the ubiquitination of proteins; however its precise functions remain to be fully understood ...
Pinnaduwage Dushanthi +3 more
doaj +1 more source
Balkan Journal of Medical Genetics, 2021 Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2.
Özdemir K +7 more
doaj +1 more source
Contribution of MUTYH variants to male breast cancer risk: results from a multicenter study in Italy [PDF]
, 2018 Inherited mutations in BRCA1, and, mainly, BRCA2 genes are associated with increased risk of male breast cancer (MBC). Mutations in PALB2 and CHEK2 genes may also increase MBC risk.
Azzollini, Jacopo +25 more
core +3 more sources
BRCA1 mutation influences progesterone response in human benign mammary organoids
Breast Cancer Research, 2019 Background Women, who carry a germline BRCA1 gene mutation, have a markedly increased risk of developing breast cancer during their lifetime. While BRCA1 carriers frequently develop triple-negative, basal-like, aggressive breast tumors, hormone signaling
Batzaya Davaadelger +5 more
doaj +1 more source
Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures.
PLoS ONE, 2020 Mutations in BRCA1 and BRCA2 cause deficiencies in homologous recombination repair (HR), resulting in repair of DNA double-strand breaks by the alternative non-homologous end-joining pathway, which is more error prone.
Weston R Bodily +7 more
doaj +2 more sources
The Landscape of BRCA Mutations among Egyptian Women with Breast Cancer
Oncology and Therapy, 2023 Background Deleterious germline mutations in BRCA1 and BRCA2 genes are associated with a high risk of breast and ovarian cancer. In many developing countries, including Egypt, the prevalence of BRCA1/2 mutations among women with breast cancer (BC) is ...
Hamdy A. Azim +10 more
doaj +1 more source
Founder mutations in BRCA1 and BRCA2 genes
Annals of Oncology, 2007 BRCA1 and BRCA2 germline mutations contribute to a significant number of familial and hereditary breast and/or ovarian cancers. The proportion of high-risk families with breast and/or ovarian cancer cases due to mutations in these tumor suppressor genes varies widely among populations.
FERLA, Rita +9 more
openaire +2 more sources
Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.
PLoS ONE, 2013 Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%.
Alexandra V Stavropoulou +19 more
doaj +1 more source
Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients. [PDF]
PLoS Genetics, 2010 A large number of rare sequence variants of unknown clinical significance have been identified in the breast cancer susceptibility genes, BRCA1 and BRCA2.
Logan C Walker +5 more
doaj +1 more source
BRCA1 transcriptionally regulates genes involved in breast tumorigenesis [PDF]
Proceedings of the National Academy of Sciences, 2002 Loss of function of BRCA1 caused by inherited mutation and tissue-specific somatic mutation leads to breast and ovarian cancer. Nearly all BRCA1 germ-line mutations involve truncation or loss of the C-terminal BRCT transcriptional activation domain, suggesting that transcriptional regulation ...
Piri L, Welcsh +7 more
openaire +2 more sources