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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2007-02

AUTHORS

Nazneen Rahman, Sheila Seal, Deborah Thompson, Patrick Kelly, Anthony Renwick, Anna Elliott, Sarah Reid, Katarina Spanova, Rita Barfoot, Tasnim Chagtai, Hiran Jayatilake, Lesley McGuffog, Sandra Hanks, D Gareth Evans, Diana Eccles, Douglas F Easton, Michael R Stratton

ABSTRACT

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. More... »

PAGES

165-167

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1959

DOI

http://dx.doi.org/10.1038/ng1959

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022261638

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17200668


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