Skip to main content
Article thumbnail
Location of Repository

Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated

By F. (Femme) Harinck, I. (Irma) Kluijt, S.E. (Saskia) van Mil, Q. (Quinten) Waisfisz, T.A.M. (Theo) van Os, C.M. (Cora) Aalfs, A. (Anja) Wagner, M. (Maran) Olderode-Berends, R.H. (Rolf) Sijmons, E.J. (Ernst) Kuipers, J.-W. (Jan-Werner) Poley, P. (Paul) Fockens and M.J. (Marco) Bruno


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

Topics: breast cancer susceptibility, familial pancreatic cancer, hereditary cancer, mutation analysis, pancreatic cancer susceptibility
Year: 2012
DOI identifier: 10.1038/ejhg.2011.226
OAI identifier:
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • (external link)
  • Suggested articles

    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.