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

  title={PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene},
  author={Nazneen Rahman and Sheila Seal and Deborah V. Thompson and Patrick Kelly and Anthony Renwick and Anna Elliott and Sarah Reid and Katarina Spanova and Rita Barfoot and Tasnim Chagtai and Hiran Jayatilake and Lesley McGuffog and Sandra Hanks and D Gareth R Evans and Diana Eccles and Douglas F. Easton and Michael R. Stratton},
  journal={Nature Genetics},
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… CONTINUE READING
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Nature Genetics Volume

  • Y. Shiloh
  • Trends Biochem. Sci. 31,
  • 2006

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