Detection of brca1 and brca2 germline mutations in japanese population using next-generation sequencing

Molecular Genetics and Genomic Medicine

Volumn 3, Issue 2, 2015, Pages 121-129

  Hirotsu, Yosuke ^a   Nakagomi, Hiroshi ^a   Sakamoto, Ikuko ^a   Amemiya, Kenji ^a   Mochizuki, Hitoshi ^a   Omata, Masao ^a,b  

^a Yamanashi Prefectural Central Hospital   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

BRCA1; BRCA2; Diagnostic; Familial; Japanese; Next generation sequencing

Indexed keywords

EID: 84942293337     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.120     Document Type: Article

References (37)

1. Abecasis, G. R., A. Auton, L. D. Brooks, M. A. DePristo, R. M. Durbin, R. E. Handsaker, et al. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491:56–65.
2. Bonnet, C., S. Krieger, M. Vezain, A. Rousselin, I. Tournier, A. Martins, et al. 2008. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. J. Med. Genet. 45:438–446.
3. Cancer Genome Atlas Network. 2012. Comprehensive molecular portraits of human breast tumours. Nature 490:61–70.
4. Cancer Genome Atlas Research Network. 2011. Integrated genomic analyses of ovarian carcinoma. Nature 474:609– 615.
5. Castera, L., S. Krieger, A. Rousselin, A. Legros, J. J. Baumann, O. Bruet, et al. 2014. Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur. J. Hum. Genet. 22:1305–1313.
6. Connor, F., D. Bertwistle, P. J. Mee, G. M. Ross, S. Swift, E. Grigorieva, et al. 1997. Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation. Nat. Genet. 17:423–430.
7. Costa, J. L., S. Sousa, A. Justino, T. Kay, S. Fernandes, L. Cirnes, et al. 2013. Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting. Hum. Mutat. 34:629–635.
8. Couch, F. J., K. L. Nathanson, and K. Offit. 2014. Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science 343:1466–1470.
9. Easton, D. F.1, D. T. Bishop, D. Ford, and G. P. Crockford. 1993. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am. J. Hum. Genet. 52: 678–701.
10. Ferla, R., V. Calo, S. Cascio, G. Rinaldi, G. Badalamenti, I. Carreca, et al. 2007. Founder mutations in BRCA1 and BRCA2 genes. Ann. Oncol. 18(Suppl. 6):93–98.
11. FitzGerald, M. G., D. J. Marsh, D. Wahrer, D. Bell, S. Caron, K. E. Shannon, et al. 1998. Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer. Oncogene 17:727–731.
12. Gad, S., V. Caux-Moncoutier, S. Pages-Berhouet, M. Gauthier-Villars, I. Coupier, P. Pujol, et al. 2002. Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene 21:6841–6847.
13. Gonzalez, K. D., K. A. Noltner, C. H. Buzin, D. Gu, C. Y. Wen-Fong, V. Q. Nguyen, et al. 2009. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J. Clin. Oncol. 27:1250–1256.
14. Hakem, R., J. L. de la Pompa, C. Sirard, R. Mo, M. Woo, A. Hakem, et al. 1996. The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell 85:1009–1023.
15. Hall, J. M., M. K. Lee, B. Newman, J. E. Morrow, L. A. Anderson, B. Huey, et al. 1990. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684–1689.
16. Han, S. A., S. K. Park, S. H. Ahn, M. H. Lee, D. Y. Noh, L. S. Kim, et al. 2011. The Korean Hereditary Breast Cancer (KOHBRA) study: protocols and interim report. Clin. Oncol. 23:434–441.
17. Hearle, N., V. Schumacher, F. H. Menko, S. Olschwang, L. A. Boardman, J. J. Gille, et al. 2006. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin. Cancer Res. 12:3209–3215.
18. Ikeda, N., Y. Miyoshi, K. Yoneda, E. Shiba, Y. Sekihara, M. Kinoshita, et al. 2001. Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. Int. J. Cancer 91:83–88.
19. Jonkers, J., R. Meuwissen, H. van der Gulden, H. Peterse, M. van der Valk, and A. Berns. 2001. Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancer. Nat. Genet. 29:418–425.
20. Kanchi, K. L., K. J. Johnson, C. Lu, M. D. McLellan, M. D. Leiserson, M. C. Wendl, et al. 2014. Integrated analysis of germline and somatic variants in ovarian cancer. Nat. Commun. 5:1–14.
21. Kim, H., and D. H. Choi. 2013. Distribution of BRCA1 and BRCA2 Mutations in Asian Patients with Breast Cancer. J. Breast Cancer 16:357–365.
22. King, M. C., J. H. Marks, and J. B. Mandell; New York Breast Cancer Study Group. 2003. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302: 643–646.
23. Landrum, M. J., J. M. Lee, G. R. Riley, W. Jang, W. S. Rubinstein, D. M. Church, et al. 2014. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 42:D980–D985.
24. Miki, Y., J. Swensen, D. Shattuck-Eidens, P. A. Futreal, K. Harshman, S. Tavtigian, et al. 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71.
25. Montagna, M., M. Dalla Palma, C. Menin, S. Agata, A. De Nicolo, L. Chieco-Bianchi, et al. 2003. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum. Mol. Genet. 12:1055–1061.
26. Nakamura, S., M. Takahashi, M. Tozaki, T. Nakayama, T. Nomizu, Y. Miki, et al. 2013. Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. Breast Cancer [Published online 19 Nov 2013, Epub ahead of print].
27. Narod, S. A., D. Ford, P. Devilee, R. B. Barkardottir, H. T. Lynch, S. A. Smith, et al. 1995. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. Am. J. Hum. Genet. 56:254–264.
28. Schrader, K. A., S. Masciari, N. Boyd, S. Wiyrick, P. Kaurah, J. Senz, et al. 2008. Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam. Cancer 7:73–82.
29. Sekine, M., H. Nagata, S. Tsuji, Y. Hirai, S. Fujimoto, M. Hatae, et al. 2001. Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. Clin. Cancer Res. 7:3144–3150.
30. Sugano, K., S. Nakamura, J. Ando, S. Takayama, H. Kamata, I. Sekiguchi, et al. 2008. Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. Cancer Sci. 99:1967–1976.
31. Suzuki, A., J. L. de la Pompa, R. Hakem, A. Elia, R. Yoshida, R. Mo, et al. 1997. Brca2 is required for embryonic cellular proliferation in the mouse. Genes Dev. 11:1242–1252.
32. Tavtigian, S. V., J. Simard, J. Rommens, F. Couch, D. Shattuck-Eidens, S. Neuhausen, et al. 1996. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat. Genet. 12:333–337.
33. Walsh, T., M. K. Lee, S. Casadei, A. M. Thornton, S. M. Stray, C. Pennil, et al. 2010. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc. Natl. Acad. Sci. USA 107:12629–12633.
34. Walsh, T., S. Casadei, M. K. Lee, C. C. Pennil, A. S. Nord, A. M. Thornton, et al. 2011. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc. Natl. Acad. Sci. USA 108:18032– 18037.
35. Welcsh, P. L., and M. C. King. 2001. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum. Mol. Genet. 10:705–713.
36. Wooster, R., S. L. Neuhausen, J. Mangion, Y. Quirk, D. Ford, N. Collins, et al. 1994. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265:2088–2090.
37. Xu, X., K. U. Wagner, D. Larson, Z. Weaver, C. Li, T. Ried, et al. 1999. Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation. Nat. Genet. 22:37–43.