Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. Research Abstract Details 

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Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. Abstract Text:

Alisa M Goldstein,May Chan,Mark Harland,Nicholas K Hayward,Florence Demenais,D Timothy Bishop,Esther Azizi,Wilma Bergman,Giovanna Bianchi-Scarra,William Bruno,Donato Calista,Lisa A Cannon Albright,Valerie Chaudru,Agnes Chompret,Francisco Cuellar,David E Elder,Paola Ghiorzo,Elizabeth M Gillanders,Nelleke A Gruis,Johan Hansson,David Hogg,Elizabeth A Holland,Peter A Kanetsky,Richard F Kefford,Maria Teresa Landi,Julie Lang,Sancy A Leachman,Rona M MacKie,Veronica Magnusson,Graham J Mann,Julia Newton Bishop,Jane M Palmer,Susana Puig,Joan A Puig-Butille,Mitchell Stark,Hensin Tsao,Margaret A Tucker,Linda Whitaker,Emanuel Yakobson, , ,

BACKGROUND: The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with melanoma in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer. METHODS: These four features were examined in 385 families with > or =3 patients with melanoma pooled by 17 GenoMEL groups, and these attributes were compared across continents. RESULTS: Overall, 39% of families had CDKN2A mutations ranging from 20% (32/162) in Australia to 45% (29/65) in North America to 57% (89/157) in Europe. All four features in each group, except pancreatic cancer in Australia (p = 0.38), individually showed significant associations with CDKN2A mutations, but the effects varied widely across continents. Multivariate examination also showed different predictors of mutation risk across continents. In Australian families, > or =2 patients with MPM, median age at melanoma diagnosis < or =40 years and > or =6 patients with melanoma in a family jointly predicted the mutation risk. In European families, all four factors concurrently predicted the risk, but with less stringent criteria than in Australia. In North American families, only > or =1 patient with MPM and age at diagnosis < or =40 years simultaneously predicted the mutation risk. CONCLUSIONS: The variation in CDKN2A mutations for the four features across continents is consistent with the lower melanoma incidence rates in Europe and higher rates of sporadic melanoma in Australia. The lack of a pancreatic cancer-CDKN2A mutation relationship in Australia probably reflects the divergent spectrum of mutations in families from Australia versus those from North America and Europe. GenoMEL is exploring candidate host, genetic and/or environmental risk factors to better understand the variation observed.

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. Publishing Authors By Initials

AM Goldstein,M Chan,M Harland,NK Hayward,F Demenais,DT Bishop,E Azizi,W Bergman,G Bianchi-Scarra,W Bruno,D Calista,LA Albright,V Chaudru,A Chompret,F Cuellar,DE Elder,P Ghiorzo,EM Gillanders,NA Gruis,J Hansson,D Hogg,EA Holland,PA Kanetsky,RF Kefford,MT Landi,J Lang,SA Leachman,RM MacKie,V Magnusson,GJ Mann,JN Bishop,JM Palmer,S Puig,JA Puig-Butille,M Stark,H Tsao,MA Tucker,L Whitaker,E Yakobson, , ,

For similar genetic phenomena: variation (genetics) research abstracts see: genetic phenomena: variation (genetics) research

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Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Journal of medical genetics

VOLUME: 44

Page Numbers: 99-106

Journal Abbreviation: J. Med. Genet.

ISSN: 1468-6244

DAY: 11

MONTH: 08

YEAR: 2006

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. Information

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LANGUAGE: eng

NlmUniqueID: 2985087

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. Keywords Mesh Terms:

KEYWORDS: Variation (Genetics)

MESH TERMS: genetics

Chemical & Substance for Abstract: Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. Information

Substance Name: Cyclin-Dependent Kinase Inhibitor p16

Registry Number: 0

Grant and Affiliation Information for Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

AFFILIATION: Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892-7236, USA. goldstea@exchange.nih.gov

Country: England

AGENCY: United States NCI

GRANT: R01 CA88363

ACRONYM: CA

MEDLINETA: J Med Genet

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