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J Med Genet. 2011 Aug;48(8):523-5. doi: 10.1136/jmg.2010.087379. Epub 2011 Mar 17.

Germline PALB2 mutation analysis in breast-pancreas cancer families.

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  • 1Clinical Genetics and Gastroenterology Services, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. stadlerz@mskcc.org

Abstract

BACKGROUND:

Germline mutations in the PALB2 gene have been implicated in both breast cancer and pancreatic cancer susceptibility. The extent to which PALB2 mutations account for cancer susceptibility in breast-pancreas cancer families is unknown.

METHODS:

High Resolution Melting analysis and Multiplex Ligation-dependent Probe Amplification were performed to investigate the prevalence of PALB2 mutations in patients with either a personal history of both breast and pancreatic cancer or a personal history of breast cancer and a family history of a first degree relative with pancreatic cancer.

RESULTS:

No PALB2 mutations were identified in 77 breast-pancreas cancer families, which included 22 probands with a personal history of both breast and pancreatic cancer.

CONCLUSION:

Mutations within the PALB2 gene are rare events that do not account for a substantial proportion of cancer susceptibility in breast-pancreas cancer families. Routine screening of breast-pancreas cancer families for the presence of PALB2 mutations appears to be low yield.

PMID:
21415078
[PubMed - indexed for MEDLINE]
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