title: Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.
abstract: PALB2-mutation carriers not only have an increased risk for breast cancer (BC) but also for pancreatic cancer (PC). Thus far, PALB2 mutations have been mainly found in PC patients from families affected by both PC and BC. As it is well known that the prevalence of gene mutations varies between different populations, we studied the prevalence of PALB2 mutations in a Dutch cohort of non-BRCA1/2 familial PC (FPC) families and in non-BRCA1/2 familial BC (FBC) families with at least one PC case. Mutation analysis included direct sequencing and multiplex ligation-dependent probe amplification (MLPA) and was performed in a total of 64 patients from 56 distinct families (28 FPC families, 28 FBC families). In total, 31 patients (48%) originated from FPC families; 24 were FPC patients (77%), 6 had a personal history of BC (19%) and 1 was a suspected carrier (3.2%). The remaining 33 patients (52%) were all female BC patients of whom 31 (94%) had a family history of PC and 2 (6.1%) had a personal history of PC. In none of these 64 patients a PALB2 mutation was found. Therefore, PALB2 does not have a major causal role in familial clustering of PC and BC in non-BRCA1/2 families in the Dutch population.
authors.affiliation: Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands. f.harinck@erasmusmc.nl
authors.forename: Femme
authors.initials: F
authors.lastname: Harinck
authors.forename: Irma
authors.initials: I
authors.lastname: Kluijt
authors.forename: Saskia E
authors.initials: SE
authors.lastname: van Mil
authors.forename: Quinten
authors.initials: Q
authors.lastname: Waisfisz
authors.forename: Theo A M
authors.initials: TA
authors.lastname: van Os
authors.forename: Cora M
authors.initials: CM
authors.lastname: Aalfs
authors.forename: Anja
authors.initials: A
authors.lastname: Wagner
authors.forename: Maran
authors.initials: M
authors.lastname: Olderode-Berends
authors.forename: Rolf H
authors.initials: RH
authors.lastname: Sijmons
authors.forename: Ernst J
authors.initials: EJ
authors.lastname: Kuipers
authors.forename: Jan-Werner
authors.initials: JW
authors.lastname: Poley
authors.forename: Paul
authors.initials: P
authors.lastname: Fockens
authors.forename: Marco J
authors.initials: MJ
authors.lastname: Bruno
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D015331:Cohort Studies; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000235:genetics*; D015995:Prevalence; 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