A deep intronic mutation in CDKN2A predisposes to disease in a subset of melanoma pedigrees.

被引：0
|
作者：
Harland, M [1 ]
Mistry, S [1 ]
Bishop, DT [1 ]
Bishop, JN [1 ]
机构：
[1] St James Univ Hosp, Imperial Canc Res Fund, Leeds LS9 7TF, W Yorkshire, England
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
79
引用
收藏
页码：191 / 191
页数：1
相关论文
共 50 条
  • [21] Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A
    van der Rhee, Jasper I.
    Krijnen, Pieta
    Gruis, Nelleke A.
    de Snoo, Femke A.
    Vasen, Hans F. A.
    Putter, Hein
    Kukutsch, Nicole A.
    Bergman, Wilma
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2011, 65 (02) : 281 - 288
  • [22] CDKN2A novel mutation in a patient from a melanoma-prone family
    Grammatico, P
    Binni, F
    Eibenschutz, L
    De Bernardo, C
    Grammatico, B
    Rinaldi, R
    De Simone, P
    Catricalà, C
    MELANOMA RESEARCH, 2001, 11 (05) : 447 - 449
  • [23] Familial malignant melanoma: CDKN2A mutation-positive family tree
    Winter, Sarah
    Ashton, Sally
    Davies, Hannah
    Mughal, Avad
    BRITISH JOURNAL OF DERMATOLOGY, 2024, 191 : I46 - I47
  • [24] Clinical and histopathological features of malignant melanoma in germline CDKN2A mutation families
    Måsbäck, A
    Olsson, H
    Westerdahl, J
    Sandberg, T
    Borg, Å
    Jonsson, N
    Ingvar, C
    MELANOMA RESEARCH, 2002, 12 (06) : 549 - 557
  • [25] A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)
    Harland, Mark
    Goldstein, Alisa M.
    Kukalizch, Kairen
    Taylor, Claire
    Hogg, David
    Puig, Susana
    Badenas, Celia
    Gruis, Nelleke
    ter Huurne, Jeanet
    Bergman, Wilma
    Hayward, Nicholas K.
    Stark, Mitchell
    Tsao, Hensin
    Tucker, Margaret A.
    Landi, Maria Teresa
    Scarra, Giovanna Bianchi
    Ghiorzo, Paola
    Kanetsky, Peter A.
    Elder, David
    Mann, Graham J.
    Holland, Elizabeth A.
    Bishop, D. Timothy
    Bishop, Julia Newton
    EUROPEAN JOURNAL OF CANCER, 2008, 44 (09) : 1269 - 1274
  • [26] Germline CDKN2A mutations in childhood melanoma
    Whiteman, DC
    Milligan, A
    Welch, J
    Green, AC
    Hayward, NK
    JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1997, 89 (19) : 1460 - 1460
  • [27] Screening for CDKN2A mutations in hereditary melanoma
    Goldstein, AM
    Tucker, MA
    JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1997, 89 (10) : 676 - 678
  • [28] Surveillance, CDKN2A and survival of familial melanoma
    van Doorn, Remco
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2023, 37 (02) : 218 - 219
  • [29] CDKN2A novel mutation in 3 patient from a melanoma-prone family
    Grammatico, P
    Binni, F
    Eibenschutz, L
    De Bernardo, C
    Grammatico, B
    Rinaldi, R
    Catricalà, C
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 113 (03) : 497 - 497
  • [30] Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample
    Begg, CB
    Orlow, I
    Hummer, AJ
    Armstrong, BK
    Kricker, A
    Marrett, LD
    Millikan, RC
    Gruber, SB
    Anton-Culver, H
    Zanetti, R
    Gallagher, RP
    Dwyer, T
    Rebbeck, TR
    Mitra, N
    Busam, K
    JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2005, 97 (20): : 1507 - 1515
12345