Results 51 to 60 of about 44,419 (235)
A complete protein truncation test for BRCA1 and BRCA2 [PDF]
European Journal of Human Genetics, 1998 The protein truncation test (PTT) is currently the fastest method in general use for detecting previously unidentified mutations in tumor suppressor genes. Greater than three kilobases of coding sequence can be screened by one PCR reaction, one coupled in vitro transcription/translation reaction, and one lane on an SDS-PAGE gel.
openaire +3 more sources
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants [PDF]
, 2020 Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Methods: Retrospective cohort data on 18,
Kwong, A +3 more
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Nature Communications, 2020 In meiosis, BRCA2 associates to MEILB2 localising at DNA double-strand breaks (DSBs). Here, the authors identify BRCA2 and MEILB2- associating protein 1 termed BRME1 to work together in regulating meiotic recombination.
Jingjing Zhang +14 more
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p53 Mediates Repression of the BRCA2 Promoter and Down-regulation of BRCA2 mRNA and Protein Levels in Response to DNA Damage [PDF]
Journal of Biological Chemistry, 2003 Adriamycin and other DNA-damaging agents have been shown to reduce BRCA2 mRNA levels in breast cancer cell lines, but the mechanism by which this occurs is unknown. In this study, we show that adriamycin and mitomycin C, but not other DNA-damaging agents, repress BRCA2 promoter activity in a dose- and time-dependent manner.
Kangjian, Wu +2 more
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Post-transcriptional regulation of BRCA2 through interactions with miR-19a and miR-19b
Frontiers in Genetics, 2016 Breast cancer type 2, early onset susceptibility gene (BRCA2) is a major component of the homologous recombination DNA repair pathway. It acts as a tumor suppressor whose function is often lost in cancers.
Elena Mogilyansky +6 more
doaj +1 more source
BRCA1 and BRCA2 proteins: roles in health and disease. [PDF]
Molecular Pathology, 1998 Between 5% and 10% of all breast cancer is hereditary, with patients having a strong family history of the disease. The remaining 90-95% of cases are classed as sporadic. Within the inherited group, 80-90% of cases are the result of germline mutations affecting two recently identified genes: BRCA1 and BRCA2.
J A, Duncan, J R, Reeves, T G, Cooke
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Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. [PDF]
PLoS ONE, 2013 Mutations in BRCA1 and BRCA2 are responsible for a large proportion of breast-ovarian cancer families. Protein-truncating mutations have been effectively used in the clinical management of familial breast cancer due to their deleterious impact on protein
Eric Tram, Sevtap Savas, Hilmi Ozcelik
doaj +1 more source
BRCA2 BRC missense variants disrupt RAD51-dependent DNA repair
eLife, 2022 Pathogenic mutations in the BRCA2 tumor suppressor gene predispose to breast, ovarian, pancreatic, prostate, and other cancers. BRCA2 maintains genome stability through homology-directed repair (HDR) of DNA double-strand breaks (DSBs) and replication ...
Judit Jimenez-Sainz +7 more
doaj +1 more source
, 2011 The breast cancer suppressor BRCA2 controls the recombinase RAD51 in the reactions that mediate homologous DNA recombination, an essential cellular process required for the error-free repair of DNA double-stranded breaks.
Rajendra, Eason +28 more
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Genetics of DNA replication and homologous recombination in arabidopsis [PDF]
, 2005 The integrity of genetic information of each cell is constantly subjected to various threats, originating from environmental and endogenous sources.
Schürmann, David
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