TY - JOUR
T1 - Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours
AU - Marian, C.
AU - Scope, A.
AU - Laud, K.
AU - Friedman, E.
AU - Pavlotsky, F.
AU - Yakobson, E.
AU - Bressac-De Paillerets, B.
AU - Azizi, E.
N1 - Funding Information:
Catalin Marian is a recipient of a ‘Marie Curie’ fellowship, EU ref. no. QLGA-GH-99-50406-15; his current address is Biochemistry Department, University of Medicine and Pharmacy of Timisoara, Romania. Karine Laud is a recipient of an IGR postdoctoral fellowship. This work was partly supported by PHRC regional Ile de France, Grant No. AOR 01 091. Alon Scope performed research as part of the requisite of the Scientific Council, Isreal Medical Association, for Dermatology Specialty.
PY - 2005/6/20
Y1 - 2005/6/20
N2 - To gain insight into the molecular mechanisms involved in the inherited predisposition to melanoma and associated neural system tumours, 42 Jewish, mainly Ashkenazi, melanoma families with or without neural system tumours were genotyped for germline point mutations and genomic deletions at the CDKN2A/ARF and CDK4 loci. CDKN2A/ARF deletion detection was performed using D9S1748, an intragenic microsatellite marker. Allele dosage at the p14ARF locus was analysed by quantitative real-time PCR employing a TaqMan probe that anneals specifically to exon 1β of the p14ARF gene. For detecting point mutations, dHPLC and direct sequencing of the coding sequences of CDKN2A/ARF and CDK4 was used. No germline alterations in any of the tested genes were detected among the families under study. We conclude that in the majority of Ashkenazi Jewish families, the genes tested are unlikely to be implicated in the predisposition to melanoma and associated neural system tumours.
AB - To gain insight into the molecular mechanisms involved in the inherited predisposition to melanoma and associated neural system tumours, 42 Jewish, mainly Ashkenazi, melanoma families with or without neural system tumours were genotyped for germline point mutations and genomic deletions at the CDKN2A/ARF and CDK4 loci. CDKN2A/ARF deletion detection was performed using D9S1748, an intragenic microsatellite marker. Allele dosage at the p14ARF locus was analysed by quantitative real-time PCR employing a TaqMan probe that anneals specifically to exon 1β of the p14ARF gene. For detecting point mutations, dHPLC and direct sequencing of the coding sequences of CDKN2A/ARF and CDK4 was used. No germline alterations in any of the tested genes were detected among the families under study. We conclude that in the majority of Ashkenazi Jewish families, the genes tested are unlikely to be implicated in the predisposition to melanoma and associated neural system tumours.
KW - Ashkenazi Jewish melanoma families
KW - CDK4
KW - CDKN2A/ARF
KW - Germline mutations
KW - Inherited predisposition
KW - Neural system tumours
UR - http://www.scopus.com/inward/record.url?scp=22044442580&partnerID=8YFLogxK
U2 - 10.1038/sj.bjc.6602629
DO - 10.1038/sj.bjc.6602629
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AN - SCOPUS:22044442580
SN - 0007-0920
VL - 92
SP - 2278
EP - 2285
JO - British Journal of Cancer
JF - British Journal of Cancer
IS - 12
ER -
