دورية أكاديمية
Features associated with germline CDKN2A mutations: A GenoMEL study of melanoma-prone families from three continents
| العنوان: | Features associated with germline CDKN2A mutations: A GenoMEL study of melanoma-prone families from three continents |
|---|---|
| المؤلفون: | Goldstein, Alisa M, Chan, May, Harland, Mark, Hayward, Nick K, Demenais, Florence, Bishop, D. Timothy, Azizi, Esther, Bergman, Wilma, Bianchi-Scarra, Giovanna, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A, Chaudru, Valerie, Chompret, Agnes, Cuellar, Francisco, Elder, David E, Ghiorzo, Paola, Gillanders, Elizabeth M, Gruis, Nelleke, Hansson, Johan, Hogg, David, Holland, Elizabeth A, Kanetsky, Peter A., Kefford, Richard F, Landi, Maria Teresa, Lang, Julie MS, Leachman, Sancy, Mackie, Rona M, Magnusson, Veronica, Mann, Graham, Newton-Bishop, Julia, Palmer, Jane M, Puig, Susana, Puig-Butille, Joan A, Stark, Mitchell, Tsao, Hensin, Tucker, Margaret A, Whitaker, Linda, Yakobson, Emmanuel, Study Group, Lund Melanoma, GenoMEL, Melanoma Genetics Consortium |
| بيانات النشر: | British Medical Journal Publishing Group |
| سنة النشر: | 2006 |
| المجموعة: | HighWire Press (Stanford University) |
| مصطلحات موضوعية: | Original articles |
| الوصف: | Background: The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of melanoma patients in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer (PC). Methods: We examined these four features in 385 families with ¡Ý3 melanoma patients pooled by 17 GenoMEL groups. We compared these attributes 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 PC 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, ¡Ý2 MPM patients, median age at melanoma diagnosis ¡Ü40 years, and ¡Ý6 melanoma patients in a family jointly predicted mutation risk. In European families, all four factors concurrently predicted risk but with less stringent criteria than in Australia. In North American families, only ¡Ý1 MPM patient and age at diagnosis ¡Ü40 years simultaneously predicted 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 PC-CDKN2A mutation relationship in Australia likely reflects the divergent spectrum of mutations in families from Australia versus North America and Europe. GenoMEL is exploring candidate host, genetic, and/or environmental risk factors to better understand the variation observed. |
| نوع الوثيقة: | text |
| وصف الملف: | text/html |
| اللغة: | English |
| العلاقة: | http://jmg.bmj.com/cgi/content/short/jmg.2006.043802v1Test; http://dx.doi.org/10.1136/jmg.2006.043802Test |
| DOI: | 10.1136/jmg.2006.043802 |
| الإتاحة: | https://doi.org/10.1136/jmg.2006.043802Test http://jmg.bmj.com/cgi/content/short/jmg.2006.043802v1Test |
| حقوق: | Copyright (C) 2006, BMJ Publishing Group Ltd |
| رقم الانضمام: | edsbas.B9BE9A63 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1136/jmg.2006.043802 |
|---|