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

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

2007 February ; 39(2): 165–167. doi:10.1038/ng1959. | Nazneen Rahman, Sheila Seal, Deborah Thompson, Patrick Kelly, Anthony Renwick, Anna Elliott, Sarah Reid, Katarina Spanova, Rita Barfoot, Tasnim Chagtaei, Hiran Jayatilake, Lesley McGuffog, Sandra Hanks, D Gareth Evans, Diana Eccles, The Breast Cancer Susceptibility Collaboration (UK), Douglas F Easton, and Michael R Stratton
The study investigates the role of *PALB2*, a gene encoding a protein that interacts with BRCA2, in breast cancer susceptibility. The researchers identified monoallelic truncating *PALB2* mutations in 10 out of 923 individuals with familial breast cancer, compared to none in 1,084 controls, suggesting a 2.3-fold higher risk of breast cancer (P = 0.0025). This finding confirms *PALB2* as a breast cancer susceptibility gene and highlights the close relationship between the Fanconi anemia-DNA repair pathway and breast cancer predisposition. The study also notes that *PALB2* mutations may confer a higher relative risk of male breast cancer than female breast cancer, similar to *BRCA2* mutations. The estimated population attributable fraction of *PALB2* mutations for breast cancer is 0.23%, and the percentage of familial relative risk due to *PALB2* is 0.24%. The authors conclude that *PALB2* mutations are associated with a modestly increased risk of breast cancer, emphasizing the complex relationship between Fanconi anemia genes and breast cancer susceptibility.The study investigates the role of *PALB2*, a gene encoding a protein that interacts with BRCA2, in breast cancer susceptibility. The researchers identified monoallelic truncating *PALB2* mutations in 10 out of 923 individuals with familial breast cancer, compared to none in 1,084 controls, suggesting a 2.3-fold higher risk of breast cancer (P = 0.0025). This finding confirms *PALB2* as a breast cancer susceptibility gene and highlights the close relationship between the Fanconi anemia-DNA repair pathway and breast cancer predisposition. The study also notes that *PALB2* mutations may confer a higher relative risk of male breast cancer than female breast cancer, similar to *BRCA2* mutations. The estimated population attributable fraction of *PALB2* mutations for breast cancer is 0.23%, and the percentage of familial relative risk due to *PALB2* is 0.24%. The authors conclude that *PALB2* mutations are associated with a modestly increased risk of breast cancer, emphasizing the complex relationship between Fanconi anemia genes and breast cancer susceptibility.
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Understanding PALB2%2C which encodes a BRCA2-interacting protein%2C is a breast cancer susceptibility gene