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BAP1 and breast cancer risk

被引：21
作者：
Coupier, I
Cousin, PY
Hughes, D
Legoix-Né, P
Trehin, A
Sinilnikova, OM
Stoppa-Lyonnet, D
机构：
[1] Inst Curie, Serv Genet Oncol, Med Sect, F-75248 Paris, France
[2] Inst Curie, INSERM, U509, Sect Rech, Paris, France
[3] Ctr Rech Int Canc, Unite Epidemiol Genet, Lyon, France
[4] Inst Curie, Sect Rech, Lab Transfert, Paris, France
[5] Inst Curie, Hygrigen Projet, Paris, France
[6] Hybrigen, Paris, France
[7] Hospices Civils Lyon, Plate Forme Mixte Genet Constitut Canc Frequents, Ctr Leon Berard, Lyon, France
来源：
FAMILIAL CANCER | 2005年 / 4卷 / 04期
关键词：
BAP1; hereditary breast cancer;
D O I：
10.1007/s10689-005-2833-4
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
BAP1 whose protein interacts with BRCA1 was analysed in a series of 47 French familial breast cancer cases negatively tested for BRCA1/2 mutations. The lack of detection of deleterious mutations suggests that BAP1 is not a high risk breast cancer predisposing gene. However, a common identified variant, rs123602,, may be tested in sporadic cases as candidate for moderate risk.
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页码：273 / 277
页数：5
相关论文
共 30 条
[1]  
*ABCSG, 2000, BRIT J CANCER, V83, P1301
[2]   The ATM gene and breast cancer:: is it really a risk factor? [J].
Angèle, S ;
Hall, J .
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH, 2000, 462 (2-3) :167-178
[3]   A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes [J].
Antoniou, AC ;
Pharoah, PDP ;
McMullan, G ;
Day, NE ;
Stratton, MR ;
Peto, J ;
Ponder, BJ ;
Easton, DF .
BRITISH JOURNAL OF CANCER, 2002, 86 (01) :76-83
[4]   HOMOZYGOUS DELETION, REARRANGEMENT AND HYPERMETHYLATION IMPLICATE CHROMOSOME REGION 3P14.3-3P21.3 IN SPORADIC BREAST-CANCER DEVELOPMENT [J].
BUCHHAGEN, DL ;
QIU, LP ;
ETKIND, P .
INTERNATIONAL JOURNAL OF CANCER, 1994, 57 (04) :473-479
[5]   ESEfinder: a web resource to identify exonic splicing enhancers [J].
Cartegni, L ;
Wang, JH ;
Zhu, ZW ;
Zhang, MQ ;
Krainer, AR .
NUCLEIC ACIDS RESEARCH, 2003, 31 (13) :3568-3571
[6]   Rapid detection of noval BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments [J].
Casilli, F ;
Di Rocco, ZC ;
Gad, S ;
Tournier, I ;
Stoppa-Lyonnet, D ;
Frebourg, T ;
Tosi, M .
HUMAN MUTATION, 2002, 20 (03) :218-226
[7]   Sensitivity and predictive value of criteria for p53 germline mutation screening [J].
Chompret, A ;
Abel, A ;
Stoppa-Lyonnet, D ;
Brugières, L ;
Pagès, S ;
Feunteun, J ;
Bonaïti-Pellié, C .
JOURNAL OF MEDICAL GENETICS, 2001, 38 (01) :43-47
[8]  
CLAUS EB, 1991, AM J HUM GENET, V48, P232
[9]   How many more breast cancer predisposition genes are there? [J].
Douglas F Easton .
Breast Cancer Research, 1 (1)
[10]  
EASTON DF, 1993, AM J HUM GENET, V52, P678
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