PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

By N. Rahman, S. Seal, D. Thompson, P. Kelly, A. Renwick, Anna Elliott, S. Reid, Katarina Spanova, R. Barfoot, T. Chagtai and 7 more. Nature Genetics, 2006

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PALB2 interacts with BRCA2, and biallelic mutations in PALB2 (also known as FANCN), similar to biallelic BRCA2 mutations, cause Fanconi anemia. We identified monoallelic truncating PALB2 mutations in 10/923 individuals with familial breast cancer compared with 0/1,084 controls (P = 0.0004) and show that such mutations confer a 2.3-fold higher risk of breast cancer (95% confidence interval (c.i.) = 1.4–3.9, P = 0.0025). The results show that PALB2 is a breast cancer susceptibility gene and further demonstrate the close relationship of the Fanconi anemia–DNA repair pathway and breast cancer predisposition.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/33d16095db2ab2481520f3988dddd03e37fbeb9e

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Citations in the corpus

• Homologous recombination and human health: the roles of BRCA1, BRCA2 and associated proteins (2015, background): “As with BRCA2, monoallelic PALB2 mutations are associated with breast cancer susceptibility (Erkko et al. 2007; Rahman et al. 2007; Tischkowitz et al. 2007).”
• Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination (2010, positive): “About a dozen PALB2-truncating mutations have been found, in several countries, that are associated with a two- to six-fold increased risk of breast cance”
• RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study (2012, background): “Background: Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved in the DNA homologous recombination repair (HRR) pathway, including BRCA1, BRCA2, TP53, ATM, BRIP1, CHEK2 and PALB2, about 70% of breast cancer heritability remains unexpl”
• Homologous recombination and its regulation (2012, background): “In addition, a germline mutation of PALB2 itself was also identified in breast cancer patients (198).”