The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population

Human Molecular Genetics

Volumn 23, Issue 17, 2014, Pages 4703-4709

  Song, Honglin ^a   Cicek, Mine S ^b   Dicks, Ed ^a   Harrington, Patricia ^a   Ramus, Susan J ^c   Cunningham, Julie M ^b   Fridley, Brooke L ^d   Tyrer, Jonathan P ^a   Alsop, Jennifer ^a   Jimenez Linan, Mercedes ^e   Gayther, Simon A ^c   Goode, Ellen L ^b   Pharoah, Paul D P ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA; DNA FRAGMENT; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; AGED; ARTICLE; CANCER RISK; CLINICAL FEATURE; CONTROLLED STUDY; DNA LIBRARY; DNA SEQUENCE; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GERMLINE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MISMATCH REPAIR; MISSENSE MUTATION; OVARY CARCINOMA; PRIORITY JOURNAL; RNA SPLICING; TUMOR INVASION; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; ONSET AGE; OVARY TUMOR; PATHOLOGY; RISK FACTOR; YOUNG ADULT;

ADULT; AGE OF ONSET; AGED; BRCA1 PROTEIN; BRCA2 PROTEIN; DNA MISMATCH REPAIR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; OVARIAN NEOPLASMS; RISK FACTORS; YOUNG ADULT;

EID: 84905666270     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu172     Document Type: Article

References (49)

1. Ferlay, J., Shin, H.R., Bray, F., Forman, D., Mathers, C. and Parkin, D.M. (2010) Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int. J. Cancer, 127, 2893-2917.
2. Siegel, R., Naishadham, D. and Jemal, A. (2013) Cancer statistics, 2013. CA Cancer J. Clin., 63, 11-30.
3. Finch, A., Evans, G. and Narod, S.A. (2012) BRCA carriers, prophylactic salpingo-oophorectomy and menopause: clinical management considerations and recommendations. Womens Health (Lond. Engl), 8, 543-555.
4. Rebbeck, T.R., Kauff, N.D. and Domchek, S.M. (2009) Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J. Natl. Cancer Inst., 101, 80-87.
5. Stratton, J.F., Pharoah, P., Smith, S.K., Easton, D. and Ponder, B.A. (1998)A systematic review and meta-analysis of family history and risk of ovarian cancer. Br. J. Obstet. Gynaecol., 105, 493-499.
6. Gayther, S.A., Russell, P., Harrington, P., Antoniou, A.C., Easton, D.F. and Ponder, B.A. (1999) The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. Am. J. Hum. Genet., 65, 1021-1029.
7. Ramus, S.J., Harrington, P.A., Pye, C., Dicioccio, R.A., Cox, M.J., Garlinghouse-Jones, K., Oakley-Girvan, I., Jacobs, I.J., Hardy, R.M., Whittemore, A.S. et al. (2007) Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. Hum. Mutat., 28, 1207-1215.
8. Song, H., Ramus, S.J., Tyrer, J., Bolton, K.L., Gentry-Maharaj, A., Wozniak, E., Anton-Culver, H., Chang-Claude, J., Cramer, D.W., Dicioccio, R. et al. (2009) A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat. Genet., 41, 996-1000.
9. Bolton, K.L., Tyrer, J., Song, H., Ramus, S.J., Notaridou, M., Jones, C., Sher, T., Gentry-Maharaj, A., Wozniak, E., Tsai, Y.Y. et al. (2010) Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat. Genet., 42, 880-884.
10. Goode, E.L., Chenevix-Trench, G., Song, H., Ramus, S.J., Notaridou, M., Lawrenson, K., Widschwendter, M., Vierkant, R.A., Larson, M.C., Kjaer, S.K. et al. (2010) A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat. Genet., 42, 874-879.
11. Bojesen, S.E., Pooley, K.A., Johnatty, S.E., Beesley, J., Michailidou, K., Tyrer, J.P., Edwards, S.L., Pickett, H.A., Shen, H.C., Smart, C.E. et al. (2013) Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat. Genet., 45, 371-384.
12. Permuth-Wey, J., Lawrenson, K., Shen, H.C., Velkova, A., Tyrer, J.P., Chen, Z., Lin, H.Y., Ann, C.Y., Tsai, Y.Y., Qu, X. et al. (2013) Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nat. Commun., 4, 1627.
13. Pharoah, P.D., Tsai, Y.Y., Ramus, S.J., Phelan, C.M., Goode, E.L., Lawrenson, K., Buckley, M., Fridley, B.L., Tyrer, J.P., Shen, H. et al. (2013) GWASmeta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat. Genet., 45, 362-370.
14. Shen, H., Fridley, B.L., Song, H., Lawrenson, K., Cunningham, J.M., Ramus, S.J., Cicek, M.S., Tyrer, J., Stram, D., Larson, M.C. et al. (2013) Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat. Commun., 4, 1628.
15. Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D., Freund, M., Lichtner, P., Hartmann, L., Schaal, H. et al. (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat. Genet., 42, 410-414.
16. Loveday, C., Turnbull, C., Ramsay, E., Hughes, D., Ruark, E., Frankum, J.R., Bowden, G., Kalmyrzaev, B., Warren-Perry, M., Snape, K. et al. (2011) Germline mutations inRAD51Dconfer susceptibility to ovarian cancer. Nat. Genet., 43, 879-882.
17. Rafnar, T., Gudbjartsson, D.F., Sulem, P., Jonasdottir, A., Sigurdsson, A., Jonasdottir, A., Besenbacher, S., Lundin, P., Stacey, S.N., Gudmundsson, J. et al. (2011) Mutations in BRIP1 confer high risk of ovarian cancer. Nat. Genet., 43, 1104-1107.
18. Pal, T., Permuth-Wey, J. and Sellers, T.A. (2008) A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer. Cancer, 113, 733-742.
19. Gayther, S.A. and Pharoah, P.D. (2010)The inherited genetics of ovarian and endometrial cancer. Curr. Opin. Genet. Dev., 20, 231-238.
20. Ketabi, Z., Bartuma, K., Bernstein, I., Malander, S., Gronberg, H., Bjorck, E., Holck, S. and Nilbert, M. (2011) Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors. Gynecol. Oncol., 121, 462-465.
21. Pal, T., Akbari, M.R., Sun, P., Lee, J.H., Fulp, J., Thompson, Z., Coppola, D., Nicosia, S., Sellers, T.A., McLaughlin, J. et al. (2012) Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. Br. J. Cancer, 107, 1783-1790.
22. Ramus, S.J. and Gayther, S.A. (2009) The contribution of BRCA1 and BRCA2 to ovarian cancer. Mol. Oncol., 3, 138-150.
23. Zhang, S., Royer, R., Li, S., McLaughlin, J.R., Rosen, B., Risch, H.A., Fan, I., Bradley, L., Shaw, P.A. and Narod, S.A. (2011) Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol. Oncol., 121, 353-357.
24. Alsop, K., Fereday, S., Meldrum, C., deFazio, A., Emmanuel, C., George, J., Dobrovic, A., Birrer, M.J., Webb, P.M., Stewart, C. et al. (2012) BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. J. Clin. Oncol., 30, 2654-2663.
25. Stratton, J.F., Thompson, D., Bobrow, L., Dalal, N., Gore, M., Bishop, D.T., Scott, I., Evans, G., Daly, P., Easton, D.F. and Ponder, B.A. (1999) The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study. Am. J. Hum. Genet., 65, 1725-1732.
26. Malander, S., Rambech, E., Kristoffersson, U., Halvarsson, B., Ridderheim, M., Borg, A. and Nilbert, M. (2006) The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol. Oncol., 101, 238-243.
27. South, S.A., Vance, H., Farrell, C., Dicioccio, R.A., Fahey, C., Piver, M.S. and Rodabaugh, K.J. (2009) Consideration of hereditary nonpolyposis colorectal cancer in BRCA mutation-negative familial ovarian cancers. Cancer, 115, 324-333.
28. Walsh, T., Casadei, S., Lee, M.K., Pennil, C.C., Nord, A.S., Thornton, A.M., Roeb, W., Agnew, K.J., Stray, S.M., Wickramanayake, A. 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.
29. Yeo, G. and Burge, C.B. (2004) Maximum entropy modeling of short sequence motifs with applications toRNAsplicing signals. J. Comput. Biol., 11, 377-394.
30. Carvalho, M.A., Marsillac, S.M., Karchin, R., Manoukian, S., Grist, S., Swaby, R.F., Urmenyi, T.P., Rondinelli, E., Silva, R., Gayol, L. et al. (2007) Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res., 67, 1494-1501.
31. Chenevix-Trench, G., Healey, S., Lakhani, S., Waring, P., Cummings, M., Brinkworth, R., Deffenbaugh, A.M., Burbidge, L.A., Pruss, D., Judkins, T. et al. (2006) Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res., 66, 2019-2027.
32. Spurdle, A.B., Lakhani, S.R., Healey, S., Parry, S., Da Silva, L.M., Brinkworth, R., Hopper, J.L., Brown, M.A., Babikyan, D., Chenevix-Trench, G. et al. (2008) Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis-a report from the kConFab Investigators. J. Clin. Oncol., 26, 1657-1663.
33. Waddell, N., Ten, H.A., Marsh, A., Johnson, J., Walker, L.C., Gongora, M., Brown, M., Grover, P., Girolami, M., Grimmond, S. et al. (2008) BRCA1 andBRCA2missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. PLoS Genet., 4, e1000080.
34. Thompson, D. and Easton, D. (2002) Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol. Biomarkers Prev., 11, 329-336.
35. Thompson, D. and Easton, D. (2001) Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am. J. Hum. Genet., 68, 410-419.
36. Tyrer, J.P., Guo, Q., Easton, D.F. and Pharoah, P.D. (2013) The admixture maximum likelihood test to test for association between rare variants and disease phenotypes. BMC Bioinf., 14, 177.
37. van der Klift, H., Wijnen, J., Wagner, A., Verkuilen, P., Tops, C., Otway, R., Kohonen-Corish, M., Vasen, H., Oliani, C., Barana, D. et al. (2005) Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes Cancer, 44, 123-138.
38. Duraturo, F., Cavallo, A., Liccardo, R., Cudia, B., De, R.M., Diana, G. and Izzo, P. (2013) Contribution of large genomic rearrangements in Italian Lynch syndrome patients: characterization of a novel alu-mediated deletion. Biomed. Res. Int., 2013, 219897.
39. Lakhani, S.R., Manek, S., Penault-Llorca, F., Flanagan, A., Arnout, L., Merrett, S., McGuffog, L., Steele, D., Devilee, P., Klijn, J.G. et al. (2004) Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin. Cancer Res., 10, 2473-2481.
40. (2011) Integrated genomic analyses of ovarian carcinoma. Nature, 474, 609-615.
41. Ledermann, J., Harter, P., Gourley, C., Friedlander, M., Vergote, I., Rustin, G., Scott, C., Meier, W., Shapira-Frommer, R., Safra, T. et al. (2012) Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer. N. Engl. J. Med., 366, 1382-1392.
42. Gayther, S.A., Song, H., Ramus, S.J., Kjaer, S.K., Whittemore, A.S., Quaye, L., Tyrer, J., Shadforth, D., Hogdall, E., Hogdall, C. et al. (2007) Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer. Cancer Res., 67, 3027-3035.
43. Li, H. and Durbin, R. (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics, 26, 589-595.
44. McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M. and DePristo, M.A. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res., 20, 1297-1303.
45. Wang, K., Li, M. and Hakonarson, H. (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res., 38, e164.
46. Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., Kondrashov, A.S. and Sunyaev, S.R. (2010) A method and server for predicting damaging missense mutations. Nat. Methods, 7, 248-249.
47. Sim, N.L., Kumar, P., Hu, J., Henikoff, S., Schneider, G. and Ng, P.C. (2012) SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res., 40, W452-W457.
48. Wappenschmidt, B., Becker, A.A., Hauke, J., Weber, U., Engert, S., Kohler, J., Kast, K., Arnold, N., Rhiem, K., Hahnen, E. et al. (2012) Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. PLoS One, 7, e50800.
49. Robinson, J.T., Thorvaldsdottir, H., Winckler, W., Guttman, M., Lander, E.S., Getz, G. and Mesirov, J.P. (2011) Integrative genomics viewer. Nat. Biotechnol., 29, 24-26.