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Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma

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Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma

Content Provider	Springer Nature Link
Author	Sabbaghian, N. Kyle, R. Hao, A. Hogg, D. Tischkowitz, M.
Copyright Year	2010
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.
Starting Page	315
Ending Page	317
Page Count	3
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	10
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2010-12-11
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Familial melanoma PALB2 Cancer Research Biomedicine general Epidemiology Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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