BRCA1 mutations and phenotype

被引:0
|
作者
K. Grade
K. Höffken
R. Kath
A. Nothnagel
E. Bender
S. Scherneck
机构
[1] Max-Delbrück-Zentrum für Molekulare Medizin,Forschungsbereich Tumorgenetik
[2] Friedrich-Schiller-Universität Jena,Klinik für Innere Medizin
关键词
Mutations; Phenotype;
D O I
暂无
中图分类号
学科分类号
摘要
More than 100 mutations have been described for the breast-cancer-susceptibility geneBRCA1. The paper describes phenotypical aspects of three selected mutations located at the beginning, in the middle, and at the end of the gene. A remarkable decrease of the age of diagnosis of the mammary carcinoma is observed with increasing length of the putative gene product, combined with greater severity of the disease.
引用
收藏
页码:69 / 70
页数:1
相关论文
共 50 条
  • [1] BRCA1 mutations and phenotype
    Grade, K
    Hoffken, K
    Kath, R
    Nothnagel, A
    Bender, E
    Scherneck, S
    JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY, 1997, 123 (01) : 69 - 70
  • [2] BRCA1 mutations: Haplotype and phenotype analysis revisited.
    Szabo, CI
    Fleischmann, E
    Neuhausen, S
    Devilee, P
    Goldgar, D
    Wagner, T
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A325 - A325
  • [3] BRCA1 mutations
    DiCioccio, RA
    Werness, BA
    Piver, MS
    GENES CHROMOSOMES & CANCER, 2003, 37 (02): : 222 - 222
  • [4] Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer
    Foulkes, WD
    Stefansson, IM
    Chappuis, PO
    Bégin, LR
    Goffin, JR
    Wong, N
    Trudel, M
    Akslen, LA
    JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2003, 95 (19) : 1482 - 1485
  • [5] Re: Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer
    Palacios, J
    Honrado, E
    Osorio, A
    Diez, O
    Rivas, C
    JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2004, 96 (09): : 712 - 714
  • [6] BRCA1 mutations in breast cancer: identification of new mutations in the BRCA1 gene in Algerian population
    Salhi, Nadjet
    Gargouri, Raja
    Bakour, Rabah
    Nacer, Benzidane
    Boulgua, Kada
    Guargouri, Ali
    Farid, Cherbal
    CANCER RESEARCH, 2006, 66 (08)
  • [7] Mutant BRCA1 genes antagonize phenotype of wild-type BRCA1
    Fan, SJ
    Yuan, RQ
    Ma, YX
    Meng, QH
    Goldberg, ID
    Rosen, EM
    ONCOGENE, 2001, 20 (57) : 8215 - 8235
  • [8] Mutant BRCA1 genes antagonize phenotype of wild-type BRCA1
    Saijun Fan
    Ren-qi Yuan
    Yong Xian Ma
    Qinghui Meng
    Itzhak D Goldberg
    Eliot M Rosen
    Oncogene, 2001, 20 : 8215 - 8235
  • [9] Literature on BRCA1 mutations not cited
    DiCioccio, RA
    AMERICAN JOURNAL OF PATHOLOGY, 2000, 156 (04): : 1478 - 1478
  • [10] BRCA1 mutations in southern England
    DM Eccles
    P Englefield
    MA Soulby
    IG Campbell
    British Journal of Cancer, 1998, 77 : 2199 - 2203