Document Detail

Genetic variation at KIT locus may predispose to melanoma.
MedLine Citation:
PMID:  23020152     Owner:  NLM     Status:  Publisher    
As loss of KIT frequently occurs in melanoma progression, we hypothesized that KIT is implicated in predisposition to melanoma (MM). Thus, we sequenced the KIT coding region in 112 familial MM cases and 143 matched controls and genotyped Tag SNPs in 2 cohorts of melanoma patients and matched controls. Five rare KIT substitutions, all predicted possibly or probably deleterious, were identified in 5 patients, but none in controls (RR = 2.26 [1.26-2.26]). Expressed in melanocyte lines, three substitutions inhibited KIT signaling. Comparison with exomes database (7020 alleles) confirmed a significant excess of rare deleterious KIT substitutions in patients. Additionally, a common SNP, rs2237028, was associated with MM risk and 6 KIT variants associated with nevus count. Our data strongly suggest that rare KIT substitutions predispose to melanoma and that common variants at KIT locus may also impact nevus count and melanoma risk. © 2012 John Wiley & Sons A/S.
Agnes Bourillon; Hui-Han Hu; Gilles Hetet; Jean-Jacques Lacapere; Jocelyne André; Vincent Descamps; Nicole Basset-Seguin; Zighereda Ogbah; Susana Puig; Philippe Saiag; Martine Bagot; Armand Bensussan; Bernard Grandchamp; Nicolas Dumaz; Nadem Soufir
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-1
Journal Detail:
Title:  Pigment cell & melanoma research     Volume:  -     ISSN:  1755-148X     ISO Abbreviation:  Pigment Cell Melanoma Res     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-1     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101318927     Medline TA:  Pigment Cell Melanoma Res     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons A/S.
Département de Génétique, Hôpital Bichat-Claude Bernard, APHP, Paris, France.
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