Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
24949998
TITLE
Assessment of PALB2 as a candidate melanoma susceptibility gene.
ABSTRACT
Partner and localizer of BRCA2 (PALB2) interacts with BRCA2 to enable double strand break repair through homologous recombination. Similar to BRCA2, germline mutations in PALB2 have been shown to predispose to Fanconi anaemia as well as pancreatic and breast cancer. The PALB2/BRCA2 protein interaction, as well as the increased melanoma risk observed in families harbouring BRCA2 mutations, makes PALB2 a candidate for melanoma susceptibility. In order to assess PALB2 as a melanoma predisposition gene, we sequenced the entire protein-coding sequence of PALB2 in probands from 182 melanoma families lacking pathogenic mutations in known high penetrance melanoma susceptibility genes: CDKN2A, CDK4, and BAP1. In addition, we interrogated whole-genome and exome data from another 19 kindreds with a strong family history of melanoma for deleterious mutations in PALB2. Here we report a rare known deleterious PALB2 mutation (rs118203998) causing a premature truncation of the protein (p.Y1183X) in an individual who had developed four different cancer types, including melanoma. Three other family members affected with melanoma did not carry the variant. Overall our data do not support a case for PALB2 being associated with melanoma predisposition.
DATE PUBLISHED
2014
HISTORY
PUBSTATUS PUBSTATUSDATE
ecollection 2014
received 2014/03/19
accepted 2014/05/27
epublish 2014/06/20
entrez 2014/06/21 06:00
pubmed 2014/06/21 06:00
medline 2014/06/21 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Aoude LG Aoude Lauren G LG QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia; University of Queensland, Brisbane, QLD, Australia.
Xu M Xu Mai M National Cancer Institute, Bethesda, Maryland, United States of America.
Zhao ZZ Zhao Zhen Zhen ZZ QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Kovacs M Kovacs Michael M National Cancer Institute, Bethesda, Maryland, United States of America.
Palmer JM Palmer Jane M JM QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Johansson P Johansson Peter P QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Symmons J Symmons Judith J QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Trent JM Trent Jeffrey M JM Translational Genomics Research Institute, Phoenix, Arizona, United States of America.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Montgomery GW Montgomery Grant W GW QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Brown KM Brown Kevin M KM National Cancer Institute, Bethesda, Maryland, United States of America; Translational Genomics Research Institute, Phoenix, Arizona, United States of America.
Hayward NK Hayward Nicholas K NK QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
INVESTIGATORS
JOURNAL
VOLUME: 9
ISSUE: 6
TITLE: PloS one
ISOABBREVIATION: PLoS ONE
YEAR: 2014
MONTH:
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1932-6203
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: PLoS One
COUNTRY: United States
ISSNLINKING: 1932-6203
NLMUNIQUEID: 101285081
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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PMC4065098 NLM
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