Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2011-06

AUTHORS

N. Sabbaghian, R. Kyle, A. Hao, D. Hogg, M. Tischkowitz

ABSTRACT

PALB2 is a breast and pancreas cancer susceptibility gene whose protein is closely associated with BRCA2 and is essential for BRCA2 anchorage to nuclear structures. This functional relationship made PALB2 a candidate gene for susceptibility to BRCA2-related cancers such as melanoma. The purpose of this study was to screen for the presence of germline mutations in PALB2 in familial melanoma cases. We sequenced the exons and intron-exon boundaries of PALB2 in probands from 53 families with familial melanoma where CDKN2A mutations were absent. A number of previously reported coding and non-coding variants were observed. However, no truncating mutations were identified. These results indicate that deleterious PALB2 mutations are unlikely to play a significant role in familial melanoma. More... »

PAGES

315-317

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10689-010-9405-y

DOI

http://dx.doi.org/10.1007/s10689-010-9405-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1031380299

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21153565


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