Large genomic BRCA2 rearrangements and male breast cancer

Cancer Detection and Prevention

Volumn 30, Issue 6, 2006, Pages 530-534

  Karhu, Ritva ^a   Laurila, Eeva ^a   Kallioniemi, Anne ^a   Syrjäkoski, Kirsi ^a  

^a TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

BRCA1; Breast cancer susceptibility gene 2; CHEK2; Familial cancer; Founder mutation; Genomic alteration; Germ line mutation; MLPA; Multiplex ligation dependent probe amplification; Mutation detection; Risk factor; Tumor suppressor

Indexed keywords

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

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER FAMILY; CANCER PATIENT; CLINICAL ARTICLE; CONTROLLED STUDY; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; MALE; POINT MUTATION; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS, MALE; CHROMOSOMES, HUMAN, PAIR 13; DNA MUTATIONAL ANALYSIS; DNA PROBES; FINLAND; GENE REARRANGEMENT; GENES, BRCA2; HUMANS; MALE; MASS SCREENING; MIDDLE AGED; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES;

EID: 34347385325     PISSN: 0361090X     EISSN: 15251500     Source Type: Journal    
DOI: 10.1016/j.cdp.2006.10.002     Document Type: Article

References (33)

1. Weiss J.R., Moysich K.B., and Swede H. Epidemiology of male breast cancer. Cancer Epidemiol Biomarkers Prev 14 (2005) 20-26
2. Thompson D., and Easton D. Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68 (2001) 410-419
3. Thorlacius S., Olafsdottir G., Tryggvadottir L., Neuhausen S., Jonasson J.G., Tavtigian S.V., et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 13 (1996) 117-119
4. Friedman L.S., Gayther S.A., Kurosaki T., Gordon D., Noble B., Casey G., et al. Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am J Hum Genet 60 (1997) 313-319
5. Syrjäkoski K., Kuukasjärvi T., Waltering K., Haraldsson K., Auvinen A., Borg A., et al. BRCA2 mutations in 154 Finnish male breast cancer patients. Neoplasia 6 (2004) 541-545
6. Vehmanen P., Friedman L.S., Eerola H., McClure M., Ward B., Sarantaus L., et al. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum Mol Genet 6 (1997) 2309-2315
7. Huusko P., Pääkkönen K., Launonen V., Pöyhönen M., Blanco G., Kauppila A., et al. Evidence of founder mutations in Finnish BRCA1 and BRCA2 families. Am J Hum Genet 62 (1998) 1544-1548
8. Syrjäkoski K., Vahteristo P., Eerola H., Tamminen A., Kivinummi K., Sarantaus L., et al. Population-based study of BRCA1 and BRCA2 mutations in 1035 unselected Finnish breast cancer patients. J Natl Cancer Inst 92 (2000) 1529-1531
9. Hogervorst F.B., Nederlof P.M., Gille J.J., McElgunn C.J., Grippeling M., Pruntel R., et al. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 63 (2003) 1449-1453
10. Laurila E., Syrjäkoski K., Holli H., Kallioniemi A., and Karhu R. Search for large genomic alterations of the BRCA1 gene in a Finnish population. Cancer Genet Cytogenet 163 (2005) 57-61
11. Woodward A.M., Davis T.A., Silva A.G., Kirk J.A., and Leary J.A. kConFab Investigators. Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet 42 (2005) e31
12. Petrij-Bosch A., Peelen T., van Vliet M., van Eijk R., Olmer R., Drusedau M., et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17 (1997) 341-345
13. Hendrickson B.C., Judkins T., Ward B.D., Eliason K., Deffenbaugh A.E., Burbidge L.A., et al. Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. Genes Chromosomes Cancer 43 (2005) 309-313
14. Tournier I., Paillerets B.B., Sobol H., Stoppa-Lyonnet D., Lidereau R., Barrois M., et al. Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res 64 (2004) 8143-8147
15. Agata S., Dalla Palma M., Callegaro M., Scaini M.C., Menin C., Ghiotto C., et al. Large genomic deletions inactivate the BRCA2 gene in breast cancer families. J Med Genet 42 (2005) e64
16. Bunyan D.J., Eccles D.M., Sillibourne J., Wilkins E., Thomas N.S., Shea-Simonds J., et al. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 91 (2004) 1155-1159
17. Bergman A., Flodin A., Engwall Y., Arkblad E.L., Berg K., Einbeigi Z., et al. A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques. Fam Cancer 4 (2005) 89-96
18. Wang T., Lerer I., Gueta Z., Sagi M., Kadouri L., Peretz T., et al. A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion. Genes Chromosomes Cancer 31 (2001) 91-95
19. Nordling M., Karlsson P., Wahlström J., Engwall Y., Wallgren A., and Martinsson T. A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. Cancer Res 58 (1998) 1372-1375
20. Miki Y., Katagiri T., Kasumi F., Yoshimoto T., and Nakamura Y. Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet 13 (1996) 245-247
21. Chin S.F., Wang Q., Puisieux A., and Caldas C. Absence of rearrangements in the BRCA2 gene in human cancers. Br J Cancer 84 (2001) 193-195
22. Lahti-Domenici J., Rapakko K., Pääkkönen K., Allinen M., Nevanlinna H., Kujala M., et al. Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families. Cancer Genet Cytogenet 129 (2001) 120-123
23. Peelen T., van Vliet M., Bosch A., Bignell G., Vasen H.F., Klijn J.G., et al. Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families. Br J Cancer 82 (2000) 151-156
24. Gad S., Klinger M., Caux-Moncoutier V., Pages-Berhouet S., Gauthier-Villars M., Coupier I., et al. Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families. J Med Genet 39 (2002) 817-821
25. Haraldsson K., Loman N., Zhang Q.X., Johannsson O., Olsson H., and Borg A. BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease. Cancer Res 58 (1998) 1367-1371
26. Csokay B., Udvarhelyi N., Sulyok Z., Besznyak I., Ramus S., Ponder B., et al. High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history. Cancer Res 59 (1999) 995-998
27. Montagna M., Dalla Palma M., Menin C., Agata S., De Nicolo A., Chieco-Bianchi L., et al. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12 (2003) 1055-1061
28. Hartmann C., John A.L., Klaes R., Hofmann W., Bielen R., Koehler R., et al. Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat 24 (2004) 534
29. Vahteristo P., Bartkova J., Eerola H., Syrjäkoski K., Ojala S., Kilpivaara O., et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71 (2002) 432-438
30. Meijers-Heijboer H., van den Ouweland A., Klijn J., Wasielewski M., de Snoo A., Oldenburg R., et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31 (2002) 55-59
31. Offit K., Pierce H., Kirchhoff T., Kolachana P., Rapaport B., Gregersen P., et al. Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet 4 (2003) 1
32. Neuhausen S., Dunning A., Steele L., Yakumo K., Hoffman M., Szabo C., et al. Role of CHEK2*1100delC in unselected series of non-BRCA1/2 male breast cancers. Int J Cancer 108 (2004) 477-478
33. Ohayon T., Gal I., Baruch R.G., Szabo C., and Friedman E. CHEK2*1100delC and male breast cancer risk in Israel. Int J Cancer 108 (2004) 479-480