Impaired BRCA2 translocation to the nucleus

Stable Identifier
R-HSA-9709275
Type
Pathway
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Impaired BRCA2 translocation to the nucleus
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This pathway describes truncating mutations in BRCA2 that result in mutant proteins lacking nuclear localization signals (NLSs) in the C-terminal domain. These truncated BRCA2 proteins mainly localize to the cytosol, impairing the ability of BRCA2 mutants to participate in homologous recombination repair (HRR) in the nucleus. Truncating mutations are the most frequent BRCA2 mutations detected in cancer (Spain et al. 1999, Yano et al. 2000, Ma et al. 2017).
Literature References
PubMed ID Title Journal Year
10570174 Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations

Shihabuddin, LS, Spain, BH, Larson, CJ, Gage, FH, Verma, IM

Proc Natl Acad Sci U S A 1999
28058502 A novel loss-of-function heterozygous BRCA2 c.8946_8947delAG mutation found in a Chinese woman with family history of breast cancer

Xiong, L, Jian, W, Xiao, D, Wang, X, Ma, D, Ma, J, Yang, J, Xia, W

J Cancer Res Clin Oncol 2017
Participants
Events
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as an event of
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Authored
Orlic-Milacic, M  (2020-12-11)
Reviewed
Liu, J  (2022-01-26)
Le, HP  (2022-01-26)
Heyer, WD  (2022-01-26)
Created
Orlic-Milacic, M  (2020-12-11)
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