Novel germline variants in melanoma families

被引：0
|
作者：
Hayward, N. K.
Pritchard, A.
Johansson, P.
Aoude, L.
Jonsson, G. [1 ]
Hoiom, V. [2 ]
Wadt, K. [3 ]
Adams, D. [4 ]
机构：
[1] Lund Univ, Lund, Sweden
[2] Karolinska Inst, Stockholm, Sweden
[3] Rigshosp, Copenhagen, Denmark
[4] Wellcome Trust Sanger Inst, Cambridge, England
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
基金：
澳大利亚国家健康与医学研究理事会;
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P12.137A
引用
收藏
页码：582 / 582
页数：1
相关论文
共 50 条
  • [41] Autoimmune genetic variants as germline biomarkers of response in melanoma immunotherapy treatment.
    Chat, Vylyny
    Ferguson, Robert
    Simpson, Danny
    Kazlow, Esther
    Lax, Rebecca
    Moran, Una
    Wilson, Melissa
    Pavlick, Anna C.
    Sullivan, Ryan J.
    Flaherty, Keith
    Osman, Iman
    Weber, Jeffrey S.
    Kirchhoff, Tomas
    JOURNAL OF CLINICAL ONCOLOGY, 2018, 36 (15)
  • [42] Novel variants identified in the rare undiagnosed families
    Ashrafi, Farzane Zare
    Peymani, Fatemeh
    Mohseni, Marzieh
    Arzhangi, Sanaz
    Akbari, Mohammad R.
    Najmabadi, Hossein
    Kahrizi, Kimia
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 297 - 297
  • [43] Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants
    Rayner, Jenna E.
    Duffy, David L.
    Smit, Darren J.
    Jagirdar, Kasturee
    Lee, Katie J.
    De'Ambrosis, Brian
    Smithers, B. Mark
    McMeniman, Erin K.
    McInerney-Leo, Aideen M.
    Schaider, Helmut
    Stark, Mitchell S.
    Soyer, H. Peter
    Sturm, Richard A.
    PLOS ONE, 2020, 15 (09):
  • [44] The Impact of Longitudinal Surveillance on Tumor Thickness for Melanoma-Prone Families with and without Pathogenic Germline Variants of CDKN2A and CDK4
    Sargen, Michael R.
    Pfeiffer, Ruth M.
    Elder, David E.
    Yang, Xiaohong R.
    Goldstein, Alisa M.
    Tucker, Margaret A.
    CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2021, 30 (04) : 676 - 681
  • [45] Frequent cleft lip and palate in families with pathogenic germline CDH1 variants
    Green, Benjamin L.
    Fasaye, Grace-Ann
    Samaranayake, Sarah G.
    Duemler, Anna
    Gamble, Lauren A.
    Davis, Jeremy L.
    FRONTIERS IN GENETICS, 2022, 13
  • [46] Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome
    de Azevedo, Pedro Guimaraes
    Guimaraes, Maria de Lourdes Rabelo
    Albuquerque, Anna Luiza Braga
    Alves, Rayane Benfica
    Fernandes, Bianca Gomes
    de Melo, Flavia Marques
    Cardenas, Raony Guimaraes Correa Do Carmo Lisboa
    Friedman, Eitan
    De Marco, Luiz
    Bastos-Rodrigues, Luciana
    FRONTIERS IN GENETICS, 2023, 14
  • [47] 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
  • [48] Genotype/phenotype and penetrance studies in melanoma families with germline CDKN2A mutations
    Bishop, JAN
    Wachsmuth, RC
    Harland, M
    Bataille, V
    Pinney, E
    Mack, P
    Baglietto, L
    Cuzick, J
    Bishop, DT
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2000, 114 (01) : 28 - 33
  • [49] Structural analysis of the impact of germline mutations of p16 in melanoma prone families
    Arun, D.
    Rath, Soumya Lipsa
    MOLECULAR DIVERSITY, 2025,
  • [50] 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
12345