Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives

Breast Cancer Research and Treatment

Volumn 115, Issue 1, 2009, Pages 51-55

  Cao, A Yong ^a   Huang, Juan ^b   Hu, Zhen ^a   Li, Wen Feng ^a   Ma, Zhong Liang ^c   Tang, Li Li ^b   Zhang, Bin ^d   Su, Feng Xi ^e   Zhou, Jie ^e   Di, Gen Hong ^a   Shen, Kun Wei ^a   Wu, Jiong ^a   Lu, Jin Song ^a   Luo, Jian Min ^a   Yuan, Wen Tao ^f   Shen, Zhen Zhou ^a   Huang, Wei ^f   Shao, Zhi Ming ^a  

^a FUDAN UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c QINGDAO UNIVERSITY   (China)

^d LIAONING CANCER HOSPITAL AND INSTITUTE   (China)

^e SUN YAT SEN UNIVERSITY   (China)

^f CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

Author keywords

Breast cancer; BRIP1 BACH1; Chinese; DHPLC; Sequence variation

Indexed keywords

BACH1 PROTEIN; BRCA1 PROTEIN; BRCA2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; BREAST CANCER; CHINESE; COMPARATIVE STUDY; CONTROLLED STUDY; DNA REPAIR; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION;

ADULT; ALLELES; BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; BREAST NEOPLASMS; CHINA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; FAMILY HEALTH; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; FEMALE; GENES, BRCA1; GENES, BRCA2; GERM-LINE MUTATION; HUMANS; MIDDLE AGED; RNA HELICASES;

EID: 67349212342     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-008-0052-z     Document Type: Article

References (20)

1. T Walsh MC King 2007 Ten genes for inherited breast cancer Cancer Cell 11 103 105
2. Li WF, Hu Z, Rao NY et al (2007) The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. Breast Cancer Res Treat. doi: 10.1007/s10549-007-9708-3 (in press)
3. SB Cantor DW Bell S Ganesan 2001 A novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function Cell 105 149 160
4. R Litman M Peng Z Jin 2001 BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ Cancer Cell 8 255 265
5. WL Bridge CJ Vandenberg RJ Franklin 2001 The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair Nat Genet 37 953 957
6. S Seal D Thompson A Renwick 2001 Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles Nat Genet 38 1239 1241
7. M Levitus Q Waisfisz BC Godthelp 2005 The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J Nat Genet 37 934 935
8. OM Serova S Mazoyer N Puget 1997 Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet 60 486 495
9. P Vehmanen LS Friedman H Eerola 1997 Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes Hum Mol Genet 6 2309 2315
10. N Rahman MR Stratton 1998 The genetics of breast cancer susceptibility Annu Rev Genet 32 95 121
11. AG Lewis J Flanagan A Marsh 2005 Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer Breast Cancer Res 7 R1005 R1016
12. SM Karppinen J Vuosku K Heikkinen 2003 No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families Eur J Cancer 39 366 371
13. JL Rutter AM Smith MR Dávila 2003 Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals Hum Mutat 22 121 128
14. L Luo H Lei Q Du 2002 No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22 Int J Cancer 98 638 639
15. P Vahteristo K Yliannala A Tamminen 2006 BACH1 Ser919Pro variant and breast cancer risk BMC Cancer 6 19
16. X Yu CC Chini M He 2003 The BRCT domain is a phospho-protein binding domain Science 302 639 642
17. B Klein G Weirich H Brauch 2001 DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations Hum Genet 108 376 384
18. W Xiao PJ Oefner 2001 Denaturing high-performance liquid chromatography: a review Hum Mutat 17 439 474
19. CG Song Z Hu J Wu 2006 The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer J Cancer Res Clin Oncol 32 617 626
20. Z Hu J Wu CH Liu 2003 The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives Hum Mutat 22 104