Large genomic rearrangements in mutation-negative BRCA families: A population-based study

Clinical Genetics

Volumn 78, Issue 4, 2010, Pages 405-407

  Rodríguez, Marta ^a   Torres, Asuncion ^a   Borràs, Joan ^a   Salvat, Mònica ^a   Gumà, Josep ^a  

^a HOSPITAL UNIVERSITARI SANT JOAN DE REUS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; GENOMIC DNA;

BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; DNA REPAIR; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; LETTER; OVARY CANCER; PRIORITY JOURNAL;

EID: 77956415500     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01463.x     Document Type: Letter

References (14)

1. Wooster R, Weber BL. Breast and ovarian cancer. N Engl J Med 2003, 348(23):2339-2347.
2. Puget N, Torchard D, Serova-Sinilnikova OM. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res 1997, 57(5):828-831.
3. Gutierrez-Enriquez S, de la Hoya M, Martinez-Bouzas C. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat 2007, 103(1):103-107.
4. de la Hoya M, Gutierrez-Enriquez S, Velasco E. Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. Clin Chem 2006, 52(8):1480-1485.
5. Vasickova P, Machackova E, Lukesova M. High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. BMC Med Genet 2007, 8:32.
6. Bunyan DJ, Eccles DM, Sillibourne J. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 2004, 91(6):1155-1159.
7. Bellosillo B, Tusquets I, Longaron R. Absence of CHEK2 mutations in Spanish families with hereditary breast cancer. Cancer Genet Cytogenet 2005, 161(1):93-95.
8. Sanchez de Abajo A, de la Hoya M, Godino J. The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families. Fam Cancer 2005, 4(2):183-186.
9. Carvalho M, Pino MA, Karchin R. Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. Mut Res 2009, 660:1-11.
10. Del Valle J, Feliubadalo L, Nadal M. Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat 2004, doi: 10.1007/s10549-009-0613-9.
11. Xu CF, Chambers JA, Solomon E. Complex regulation of the BRCA1 gene. J Biol Chem 1997, 272(34):20994-20997.
12. Agata S, Dalla Palma M, Callegaro M. Large genomic deletions inactivate the BRCA2 gene in breast cancer families. J Med Genet 2005, 42(10):e64.
13. Hogervorst FB, Nederlof PM, Gille JJ. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 2003, 63(7):1449-1453.
14. Thomassen M, Gerdes AM, Cruger D. Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark. Cancer Genet Cytogenet 2006, 168(2):168-171.