Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds

Elizabeth A. Holland; Sharon C. Beaton; Therese M. Becker; Odile M.C. Grulet; Barbara A. Peters; Helen Rizos; Richard F. Kefford; Graham J. Mann

Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds

Elizabeth A. Holland^*, Sharon C. Beaton, Therese M. Becker, Odile M.C. Grulet, Barbara A. Peters, Helen Rizos, Richard F. Kefford, Graham J. Mann

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

101 Citations (Scopus)

Abstract

CDKN2 has been implicated as a melanoma susceptibility gene in some kindreds with a family history of this disease. Mutation analysis of CDKN2 in 17 familial melanoma Australian kindreds revealed a paucity of exon mutations and none of the previously described disease-related mutations. One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds. Two previously described polymorphisms, Ala148Thr and a base change at nucleotide 540 were detected and one novel polymorphism in the untranslated region of exon 3 (nucleotide 580) was also found. Together with other recent reports, these findings provide support for CDKN2 as a susceptibility locus for familial melanoma but suggest that other loci are involved in some hereditary melanoma kindreds.

Original language	English
Pages (from-to)	2288-2294
Number of pages	7
Journal	Oncogene
Volume	11
Issue number	11
Publication status	Published - 7 Dec 1995
Externally published	Yes

Keywords

CDKN2
Cyclin dependent kinase inhibitor
Familial melanoma
Mutation linkage
p16

Cite this

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title = "Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds",

abstract = "CDKN2 has been implicated as a melanoma susceptibility gene in some kindreds with a family history of this disease. Mutation analysis of CDKN2 in 17 familial melanoma Australian kindreds revealed a paucity of exon mutations and none of the previously described disease-related mutations. One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds. Two previously described polymorphisms, Ala148Thr and a base change at nucleotide 540 were detected and one novel polymorphism in the untranslated region of exon 3 (nucleotide 580) was also found. Together with other recent reports, these findings provide support for CDKN2 as a susceptibility locus for familial melanoma but suggest that other loci are involved in some hereditary melanoma kindreds.",

keywords = "CDKN2, Cyclin dependent kinase inhibitor, Familial melanoma, Mutation linkage, p16",

author = "Holland, {Elizabeth A.} and Beaton, {Sharon C.} and Becker, {Therese M.} and Grulet, {Odile M.C.} and Peters, {Barbara A.} and Helen Rizos and Kefford, {Richard F.} and Mann, {Graham J.}",

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TY - JOUR

T1 - Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds

AU - Holland, Elizabeth A.

AU - Beaton, Sharon C.

AU - Becker, Therese M.

AU - Grulet, Odile M.C.

AU - Peters, Barbara A.

AU - Rizos, Helen

AU - Kefford, Richard F.

AU - Mann, Graham J.

PY - 1995/12/7

Y1 - 1995/12/7

N2 - CDKN2 has been implicated as a melanoma susceptibility gene in some kindreds with a family history of this disease. Mutation analysis of CDKN2 in 17 familial melanoma Australian kindreds revealed a paucity of exon mutations and none of the previously described disease-related mutations. One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds. Two previously described polymorphisms, Ala148Thr and a base change at nucleotide 540 were detected and one novel polymorphism in the untranslated region of exon 3 (nucleotide 580) was also found. Together with other recent reports, these findings provide support for CDKN2 as a susceptibility locus for familial melanoma but suggest that other loci are involved in some hereditary melanoma kindreds.

AB - CDKN2 has been implicated as a melanoma susceptibility gene in some kindreds with a family history of this disease. Mutation analysis of CDKN2 in 17 familial melanoma Australian kindreds revealed a paucity of exon mutations and none of the previously described disease-related mutations. One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds. Two previously described polymorphisms, Ala148Thr and a base change at nucleotide 540 were detected and one novel polymorphism in the untranslated region of exon 3 (nucleotide 580) was also found. Together with other recent reports, these findings provide support for CDKN2 as a susceptibility locus for familial melanoma but suggest that other loci are involved in some hereditary melanoma kindreds.

KW - CDKN2

KW - Cyclin dependent kinase inhibitor

KW - Familial melanoma

KW - Mutation linkage

KW - p16

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Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds

Abstract

Keywords

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