Intronic sequence variants of the CDKN2A gene in melanoma pedigrees
Germ‐line mutations of the tumor‐suppressor gene CDKN2A predispose individuals to melanoma in families worldwide. However, coding mutations of CDKN2A have not been detected in a significant proportion of those affected. The identification of a disease‐associated intronic mutation of CDKN2A in UK fam...
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| Veröffentlicht in: | Genes chromosomes & cancer 2005-06, Vol.43 (2), p.128-136 |
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| container_title | Genes chromosomes & cancer |
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| creator | Harland, Mark Taylor, Claire F. Bass, Sylvia Churchman, Michael Randerson-Moor, Juliette A. Holland, Elizabeth A. Mann, Graham J. Bishop, D. Timothy Newton Bishop, Julia A. |
| description | Germ‐line mutations of the tumor‐suppressor gene CDKN2A predispose individuals to melanoma in families worldwide. However, coding mutations of CDKN2A have not been detected in a significant proportion of those affected. The identification of a disease‐associated intronic mutation of CDKN2A in UK families, which has proved to be the most common CDKN2A mutation as yet identified in this population, has highlighted the possibility that additional causal mutations may lie within the intronic sequence of the gene. In this article, we describe the comprehensive screening of 109 English and 26 Australian melanoma pedigrees for intronic mutations of CDKN2A. In total, 24 sequence variants were identified across the two introns of the gene. We show evidence that two of the CDKN2A intronic variants (IVS1+1104 C > A and IVS1−1104 C > G) predispose to melanoma. IVS1+1104 was shown to result in the aberrant splicing of both p16INK4a and p14ARF mRNA. Overall, however, the proportion of English melanoma families with these variants is small. © 2005 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/gcc.20177 |
| format | Article |
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Timothy ; Newton Bishop, Julia A.</creator><creatorcontrib>Harland, Mark ; Taylor, Claire F. ; Bass, Sylvia ; Churchman, Michael ; Randerson-Moor, Juliette A. ; Holland, Elizabeth A. ; Mann, Graham J. ; Bishop, D. Timothy ; Newton Bishop, Julia A.</creatorcontrib><description>Germ‐line mutations of the tumor‐suppressor gene CDKN2A predispose individuals to melanoma in families worldwide. However, coding mutations of CDKN2A have not been detected in a significant proportion of those affected. The identification of a disease‐associated intronic mutation of CDKN2A in UK families, which has proved to be the most common CDKN2A mutation as yet identified in this population, has highlighted the possibility that additional causal mutations may lie within the intronic sequence of the gene. In this article, we describe the comprehensive screening of 109 English and 26 Australian melanoma pedigrees for intronic mutations of CDKN2A. In total, 24 sequence variants were identified across the two introns of the gene. We show evidence that two of the CDKN2A intronic variants (IVS1+1104 C > A and IVS1−1104 C > G) predispose to melanoma. IVS1+1104 was shown to result in the aberrant splicing of both p16INK4a and p14ARF mRNA. Overall, however, the proportion of English melanoma families with these variants is small. © 2005 Wiley‐Liss, Inc.</description><identifier>ISSN: 1045-2257</identifier><identifier>EISSN: 1098-2264</identifier><identifier>DOI: 10.1002/gcc.20177</identifier><identifier>PMID: 15761864</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Base Sequence ; DNA Primers ; Female ; Genes, p16 ; Germ-Line Mutation ; Humans ; Introns ; Male ; Melanoma - genetics ; Pedigree ; Reverse Transcriptase Polymerase Chain Reaction ; RNA Splicing</subject><ispartof>Genes chromosomes & cancer, 2005-06, Vol.43 (2), p.128-136</ispartof><rights>Copyright © 2005 Wiley‐Liss, Inc.</rights><rights>Copyright 2005 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3927-ed2dbbc37da3c6c3e8551a032b9d92541eb189940fc06b3e018b5f65b57edadc3</citedby><cites>FETCH-LOGICAL-c3927-ed2dbbc37da3c6c3e8551a032b9d92541eb189940fc06b3e018b5f65b57edadc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fgcc.20177$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fgcc.20177$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15761864$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Harland, Mark</creatorcontrib><creatorcontrib>Taylor, Claire F.</creatorcontrib><creatorcontrib>Bass, Sylvia</creatorcontrib><creatorcontrib>Churchman, Michael</creatorcontrib><creatorcontrib>Randerson-Moor, Juliette A.</creatorcontrib><creatorcontrib>Holland, Elizabeth A.</creatorcontrib><creatorcontrib>Mann, Graham J.</creatorcontrib><creatorcontrib>Bishop, D. Timothy</creatorcontrib><creatorcontrib>Newton Bishop, Julia A.</creatorcontrib><title>Intronic sequence variants of the CDKN2A gene in melanoma pedigrees</title><title>Genes chromosomes & cancer</title><addtitle>Genes Chromosom. Cancer</addtitle><description>Germ‐line mutations of the tumor‐suppressor gene CDKN2A predispose individuals to melanoma in families worldwide. However, coding mutations of CDKN2A have not been detected in a significant proportion of those affected. The identification of a disease‐associated intronic mutation of CDKN2A in UK families, which has proved to be the most common CDKN2A mutation as yet identified in this population, has highlighted the possibility that additional causal mutations may lie within the intronic sequence of the gene. In this article, we describe the comprehensive screening of 109 English and 26 Australian melanoma pedigrees for intronic mutations of CDKN2A. In total, 24 sequence variants were identified across the two introns of the gene. We show evidence that two of the CDKN2A intronic variants (IVS1+1104 C > A and IVS1−1104 C > G) predispose to melanoma. IVS1+1104 was shown to result in the aberrant splicing of both p16INK4a and p14ARF mRNA. Overall, however, the proportion of English melanoma families with these variants is small. © 2005 Wiley‐Liss, Inc.</description><subject>Base Sequence</subject><subject>DNA Primers</subject><subject>Female</subject><subject>Genes, p16</subject><subject>Germ-Line Mutation</subject><subject>Humans</subject><subject>Introns</subject><subject>Male</subject><subject>Melanoma - genetics</subject><subject>Pedigree</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>RNA Splicing</subject><issn>1045-2257</issn><issn>1098-2264</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMtOwzAQRS0E4r3gB5BXSCxC_XayRCmUAgIhgVhajjMpgSYpdsrj7zG0wAqxmlmcezVzENqj5IgSwgYT544YoVqvoE1KsjRhTInVz13IuEu9gbZCeCSEKJ7JdbRBpVY0VWIT5eO2911bOxzgeQ6tA_xifW3bPuCuwv0D4Hx4ccWO8QRawHWLG5jatmssnkFZTzxA2EFrlZ0G2F3ObXR3enKbnyWX16NxfnyZOJ4xnUDJyqJwXJeWO-U4pFJSSzgrsjJjUlAoaJplglSOqIIDoWkhKyULqaG0pePb6GDRO_NdvDX0pqmDg2m8B7p5MEprEjWof0GqpRSCiggeLkDnuxA8VGbm68b6d0OJ-VRrolrzpTay-8vSedFA-UsuXUZgsABe6ym8_91kRnn-XZksEnXo4e0nYf1T_IVrae6vRmZ4Ic5ubtNzQ_gHnECQcA</recordid><startdate>200506</startdate><enddate>200506</enddate><creator>Harland, Mark</creator><creator>Taylor, Claire F.</creator><creator>Bass, Sylvia</creator><creator>Churchman, Michael</creator><creator>Randerson-Moor, Juliette A.</creator><creator>Holland, Elizabeth A.</creator><creator>Mann, Graham J.</creator><creator>Bishop, D. 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| source | Wiley-Blackwell Journals; MEDLINE |
| subjects | Base Sequence DNA Primers Female Genes, p16 Germ-Line Mutation Humans Introns Male Melanoma - genetics Pedigree Reverse Transcriptase Polymerase Chain Reaction RNA Splicing |
| title | Intronic sequence variants of the CDKN2A gene in melanoma pedigrees |
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