title: Germline PALB2 mutation analysis in breast-pancreas cancer families.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Clinical Genetics and Gastroenterology Services, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. stadlerz@mskcc.org
authors.forename: Zsofia K
authors.initials: ZK
authors.lastname: Stadler
authors.forename: Erin
authors.initials: E
authors.lastname: Salo-Mullen
authors.forename: Nelly
authors.initials: N
authors.lastname: Sabbaghian
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Simon
authors.forename: Liying
authors.initials: L
authors.lastname: Zhang
authors.forename: Sara H
authors.initials: SH
authors.lastname: Olson
authors.forename: Robert
authors.initials: R
authors.lastname: Kurtz
authors.forename: Kenneth
authors.initials: K
authors.lastname: Offit
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
authors.forename: Mark E
authors.initials: ME
authors.lastname: Robson
authors.forename: Marc
authors.initials: M
authors.lastname: Tischkowitz
mesh_terms: D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005190:Family; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins