Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

被引:83
作者
Reid, S
Renwick, A
Seal, S
Baskcomb, L
Barfoot, R
Jayatilake, H
Pritchard-Jones, K
Stratton, MR
Ridolfi-Lüthy, A
Rahman, N
机构
[1] Inst Canc Res, Sect Canc Genet, Sutton SM2 5NG, Surrey, England
[2] Inst Canc Res, Sect Pediat, Surrey, England
[3] Univ Childrens Hosp, Inselspital, Div Pediat Hematol & Oncol, CH-3010 Bern, Switzerland
关键词
D O I
10.1136/jmg.2004.022673
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:147 / 151
页数:5
相关论文
共 22 条
  • [1] The Fanconi anaemia BRCA pathway
    D'Andrea, AD
    Grompe, M
    [J]. NATURE REVIEWS CANCER, 2003, 3 (01) : 23 - 34
  • [2] Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families
    Ford, D
    Easton, DF
    Stratton, M
    Narod, S
    Goldgar, D
    Devilee, P
    Bishop, DT
    Weber, B
    Lenoir, G
    Chang-Claude, J
    Sobol, H
    Teare, MD
    Struewing, J
    Arason, A
    Scherneck, S
    Peto, J
    Rebbeck, TR
    Tonin, P
    Neuhausen, S
    Barkardottir, R
    Eyfjord, J
    Lynch, H
    Ponder, BAJ
    Gayther, SA
    Birch, JM
    Lindblom, A
    Stoppa-Lyonnet, D
    Bignon, Y
    Borg, A
    Hamann, U
    Haites, N
    Scott, RJ
    Maugard, CM
    Vasen, H
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) : 676 - 689
  • [3] An update on conformation sensitive gel electrophoresis
    Ganguly, A
    [J]. HUMAN MUTATION, 2002, 19 (04) : 334 - 342
  • [4] FAMILIAL PREDISPOSITION TO WILMS TUMOR DOES NOT MAP TO THE SHORT ARM OF CHROMOSOME-11
    GRUNDY, P
    KOUFOS, A
    MORGAN, K
    LI, FP
    MEADOWS, AT
    CAVENEE, WK
    [J]. NATURE, 1988, 336 (6197) : 374 - 376
  • [5] A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability
    Healey, CS
    Dunning, AM
    Teare, MD
    Chase, D
    Parker, L
    Burn, J
    Chang-Claude, J
    Mannermaa, A
    Kataja, V
    Huntsman, DG
    Pharoah, PDP
    Luben, RN
    Easton, DF
    Ponder, BAJ
    [J]. NATURE GENETICS, 2000, 26 (03) : 362 - 364
  • [6] Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood
    Hirsch, B
    Shimamura, A
    Moreau, L
    Baldinger, S
    Hag-alshiekh, M
    Bostrom, B
    Sencer, S
    D'Andrea, AD
    [J]. BLOOD, 2004, 103 (07) : 2554 - 2559
  • [7] Biallelic inactivation of BRCA2 in Fanconi anemia
    Howlett, NG
    Taniguchi, T
    Olson, S
    Cox, B
    Waisfisz, Q
    de Die-Smulders, C
    Persky, N
    Grompe, M
    Joenje, H
    Pals, G
    Ikeda, H
    Fox, EA
    D'Andrea, AD
    [J]. SCIENCE, 2002, 297 (5581) : 606 - 609
  • [8] Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes
    Levitus, M
    Rooimans, MA
    Steltenpool, J
    Cool, NFC
    Oostra, AB
    Mathew, CG
    Hoatlin, ME
    Waisfisz, Q
    Arwert, F
    de Winter, JP
    Joenje, H
    [J]. BLOOD, 2004, 103 (07) : 2498 - 2503
  • [9] A polymorphic stop codon in BRCA2
    Mazoyer, S
    Dunning, AM
    Serova, O
    Dearden, J
    Puget, N
    Healey, CS
    Gayther, SA
    Mangion, J
    Stratton, MR
    Lynch, HT
    Goldgar, DE
    Ponder, BAJ
    Lenoir, GM
    [J]. NATURE GENETICS, 1996, 14 (03) : 253 - 254
  • [10] McDonald JM, 1998, CANCER RES, V58, P1387