breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein, BRCA2, FACD, FANCD1)
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Function
- role in double-strand break repair &/or homologous recombination
- may participate in S phase checkpoint activation
- elevated levels at G1/S transition, remain elevated into G2
- interacts with RAD51 & DSS1
- interacts with ubiquitinated FANCD2
- interacts with PALB2
- enables the recombinational repair & checkpoints functions
- interacts with WDR16
- phosphorylated by ATM upon irradiation-induced DNA damage
Structure
contains 8 BRCA2 repeats
Expression
Pathology
- defects in BRCA2 are a cause of genetic susceptibility to
- genetic variations in BRCA2 may underlie susceptibility to uveal melanoma
- pathogenic variants in BRCA1 & BRCA2 are associated with increased risk of
Laboratory
More general terms
Component of
References
- ↑ Wooster R, Stratton MR. Breast cancer susceptibility: a complex disease unravels. Trends Genet. 1995 Jan;11(1):3-5. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7900193
- ↑ Zhang H, Tombline G, Weber BL. BRCA1, BRCA2, and DNA damage response: collision or collusion? Cell. 1998 Feb 20;92(4):433-6. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9491884
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=675
- ↑ Fanconi Anemia mutation Database http://www.rockefeller.edu/fanconi/mutate/jumpd1.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=BRCA2
- ↑ Wikipedia; BRCA2 entry http://en.wikipedia.org/wiki/BRCA2
- ↑ UniProt http://www.uniprot.org/uniprot/P51587.html
- ↑ 8.0 8.1 Momozawa Y et al. Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants. JAMA Oncol 2022 Apr 14; [e-pub] PMID: https://www.ncbi.nlm.nih.gov/pubmed/35420638 PMCID: PMC9011177 Free PMC article https://jamanetwork.com/journals/jamaoncology/fullarticle/2791277
Database
- UniProt: http://www.uniprot.org/uniprot/P51587.html
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:675
- OMIM: https://mirror.omim.org/entry/114480
- OMIM: https://mirror.omim.org/entry/155720
- OMIM: https://mirror.omim.org/entry/227650
- OMIM: https://mirror.omim.org/entry/600185
- OMIM: https://mirror.omim.org/entry/605724
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=675