Germline PALB2 mutation analysis in breast–pancreas cancer families

• Published in: Journal of medical genetics Vol. 48; no. 8; pp. 523 - 525
• Main Authors: Stadler, Zsofia K, Salo-Mullen, Erin, Sabbaghian, Nelly, Simon, Jennifer A, Zhang, Liying, Olson, Sara H, Kurtz, Robert, Offit, Kenneth, Foulkes, William D, Robson, Mark E, Tischkowitz, Marc
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.08.2011; BMJ Publishing Group; BMJ Publishing Group LTD
• Subjects: Aged; Anemia; Biological and medical sciences; Breast cancer; Breast Neoplasms - genetics; cancer: breast; clinical genetics; DNA Mutational Analysis; Family; Family medical history; Fanconi Anemia Complementation Group N Protein; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic predisposition to disease; Genetic testing; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Germ-Line Mutation - genetics; Gynecology. Andrology. Obstetrics; Humans; Laboratories; Mammary gland diseases; Medical diagnosis; Medical genetics; Medical sciences; Middle Aged; Molecular and cellular biology; Mutation; Nuclear Proteins - genetics; oncology; other oncology; PALB2; Pancreatic cancer; Pancreatic Neoplasms - genetics; Proteins; Tumor Suppressor Proteins - genetics; Tumors; Human; Breast disease; Family study; Breast cancer; Malignant tumor; Mammary gland diseases; Germ line; Pancreas cancer; Digestive diseases; Genetics; Mutation; Cancer; Pancreatic disease
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmg.2010.087379

BackgroundGermline 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.MethodsHigh 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.ResultsNo PALB2 mutations were identified in 77 breast–pancreas cancer families, which included 22 probands with a personal history of both breast and pancreatic cancer.ConclusionMutations 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.