Novel germline BRCA1 and BRCA2 mutations in Turkish women with breast and/or ovarian cancer and their relatives

Cancer Investigation

Volumn 24, Issue 5, 2006, Pages 484-491

  Egeli, Unal ^a   Cecener, Gulsah ^a   Tunca, Berrin ^a   Tasdelen, Ismet ^a  

^a ULUDAG UNIVERSITY   (Turkey)

Author keywords

BRCA1 and BRCA2 genes; Breast cancer; Novel mutation; Ovarian cancer; Turkish population

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER RISK; DNA EXTRACTION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC RISK; HETERODUPLEX ANALYSIS; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL; RELATIVE; SEQUENCE ANALYSIS; TURKEY (REPUBLIC);

ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; FAMILY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MIDDLE AGED; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; OVARIAN NEOPLASMS; POLYMORPHISM, GENETIC; RISK ASSESSMENT; SOFTWARE; TURKEY;

EID: 33750141004     PISSN: 07357907     EISSN: 15324192     Source Type: Journal    
DOI: 10.1080/07357900600814706     Document Type: Article

References (50)

1. Turkish Ministry of Health. Republic of Turkey health statistics, Turkish Ministry of Health. Online: www.saglik.gov.tr/istatistikler, 1999.
2. Szabo, C.I.; King, M.C. Population genetics of BRCA1 and BRCA2. Am. J. Hum. Genet. 1997, 60, 1013-1020.
3. Abeliouich, D.; Kaduri, L.; Lerer, I.; Weinberg, N.; Amir, G.; et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am. J. Hum. Genet. 1997, 60, 505-514.
4. Leavy-Lahad, E.; Catane, R.; Eisenberg, S.; Kaufman, B.; Hornreich, G.; et al. Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am. J. Hum. Genet. 1997, 60 (5), 1059-1067.
5. Tryggvadottir, L.; Olafsdottir, E.J.; Gudlaugsdottir, S.; Thorlacius, S.; Jonasson, J.G.; et al. BRCA2 mutation cariers, reproductive factors and breast cancer risk, Breast Cancer Res. 2003, 5 (5), 121-128.
6. Balci, A.; Huusko, P.; Pakkonen, K.; Launonen, V.; Uner, A.; et al. Mutational analysis of BRCA1 and BRCA2 in Turkish cancer families: a novel mutation BRCA2 3424del4 found in male breast cancer. Eur. J. Cancer 1999, 35, 707-710.
7. Ozdag, H.; Tez, M.; Sayek, I.; Muslumanoglu, M.; Tarcan, O.; et al. Germline BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients. Eur. J. Cancer 2000, 36, 2076-2082.
8. Yazici, H.; Bitisik, O.; Akisik, E.; Cabioglu, N.; Saip, P.; et al. BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients. Br. J. Cancer 2000, 83, 737-742.
9. Manguoglu, A.E.; Luleci, G.; Ozcelik, T.; Colak, T.; Schayek, H.; et al. Germline mutations in the BRCA1and BRCA2 genes in Turkish breast/ovarian cancer patients. Hum. Mutat. 2003, Mutation in Brief #590. 21(4), 444-445.
10. Yazici, H.; Glendon, G.; Yazici, H.; Burnie, S.J.; Saip, P.; et al. BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in nonfamilial cases. Hum. Mutat. 2002, 20, 28-34.
11. Friedman, L.S.; Gayter, S.A.; Kurosaki, T. Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am. J. Hum. Genet. 1997, 60, 313-319.
12. Tavtigian, S.V.; Simard, J.; Rommens, J.; Couch, F.; Shattuck-Eidens, D.; et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat. Genet. 1996, 12, 333-337.
13. Hakansson, S.; Johannsson, O.; Johannsson, U.; Sellberg, G.; Loman, N.; Gerdes, A.M. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am. J. Hum. Genet. 1997, 60 (5), 1068-1078.
14. Sanger, F.; Nicklen, S.; Caulson, A.R. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA 1977, 74, 463-467.
15. Martinez-Ferrandis, J.I.; Vega, A.; Chirivella, I.; Marin-Garcia, P.; Insa, A.; et al. Mutational analysis of BRCA1 and BRCA2 in Mediterrranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations. Hum. Mutat. 2003, 22 (5), 417-418.
16. Hamann, U.; Liu, X.; Bungardt, N.; Ulmer, HU.; Bastert, G.; Sinn, HP. Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany. Eur. J. Hum. Genet. 2003, 11 (6), 464-467.
17. de Sanjose, S.; Leone, M.; Berez, V.; Izquierdo, A., Font, R.; Brunet, JM.; Louat, T.; Vilardell, L., Borras, J.; Viladiu, P.; Bosch, FX., Lenoir, GM.; Sinilnikova, OM. Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. Int J. Cancer. 2003, 106 (4), 588-593.
18. Loman, N., Bladstrom, A.; Johannsson, O., Borg, A.; Olsson, H. Cncer incidence in relatives of a population-based set of cases early-onset breast cancer with a known BRCA1 and BRCA2 mutations status. Breast Cancer Res. 2003 Aug, 5 (6), 175-186.
19. Berry, D. A.; Iversen, ES, Jr.; Gudbjartsson, D.F.; Hiller, E.H.; Garber, J.E.; Peshkin, B.N.; Lerman, V.; Watson, P.; Lynch, H.AT.; Hilsenbeck, S.G.; Rubinsten, W.S.; Hughes, K.S., Parmigiani, G. BRCAPRO validation. Sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J. Clin. Oncol. 2002, 20, 2701-2712.
20. Miki, Y.; Swensen, J.; Shattuck-Eidens, D.; Futreal, P.A.; Harshman, K.; Tavtigian, S.; Liu, Q.; Cochran, C.; Bennett, L.M.; Ding, W. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994, 266, 66-71.
21. Futreal, P.A.; Liu, Q.; Shattuck-Eidens, D.; Cochran, C.; Harshman, K.; Tavtigian, S.; Bennett, L.M.; Haugen-Strano, A.; Swensen, J.; Miki, Y. BRCA1 mutations in primary breast and ovarian carcinomas. Science 1994, 266, 120-122.
22. Wooster, R.; Bignell, G.; Lancaster, J.; Swift, S.; Seal, S.; Mangion, J.; Collins, N.; Gregory, S.; Gumbs, C.; Micklem, G. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995, 378, 789-792.
23. Ladopoulou, A.; Kroupis, C.; Konstantopoulou, I.; Ioannidou-Mouzaka, L.; Schofield, A.C.; Pantazidis, A.; Armaou, S.; Tsiagas, I.; Lianidou, E.; Efstathiou, E.; Tsionou, C.; Panopoulos, C.; Mihalatos, M.; Nasioulas, G.; Skarlos, D.; Haites, N.E.; Fountzilas, G.; Pandis, N.; Yannoukakos, D. Germline BRCA1&BRCA2 mutations in Grek breast/ovarian cancer families: 5382insC is the most frequent mutation observed. Cancer Letters 2002, 185, 61-70.
24. Neuhausen, SL. Ethnic differences in cancer risk resulting from genetic variation. Cancer 1999, 86, 2575-2582.
25. Osorio, A.; Barroso, A.; Martinez, B.; Cebrian, A.; San Roman, J.M.; Lobo, F.; Robledo, M.; Benitez, J. Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families. Br. J. Cancer 2000, 82, 1266-1270.
26. Goolen, G.; Teugels, E.; Bonduelle, M.; Neyns, B.; De Greve, J. High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects. J. Med. Genet. 1999, 36, 304-308.
27. Stuppia, L.; Di Fulvio, P.; Aceto, G.; Pintor, S.; Veschi, S.; Gatta, V.; Colosimo, A.; Cianchetti, E.; Cama, A.; Mariani-Constantini, R.; Battista, P.; Palka, G. BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy. Hum. Mutat. 2003, Aug, 22 (2), 178-179.
28. Meindl, A. German Consortium for Hereditary Breast and Ovarian Cancer. Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int. J. Cancer 2002, Feb 1; 97 (4), 472-480.
29. Verhoog, L.C.; van den Ouweland, A.M.; Berns, E.; van Veghel-Plandsoen, M.M.; van Staveren, I.L.; Wagner, A.; Bartells, C.C.; Tilanus-Linthorst, M.M.; Devilee, P.; Seynaeve, C.; Halley, D.J.; Niermeijer, M.F.; Klinj, J.G.; Meijers-Heijboer, H. Large regional differences in the frequency of distict BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur. J. Cancer 2001, Nov 37 (16), 2082-2090.
30. Vehmanen, P.; Friedman, L.S.; Eurola, H.; McClure, M.; Ward, B.; Sarantha, L.; Kainu, T.; Syrjakoski, K.; Pyrhonen, S.; Kallioniemi, O.P.; Muhonen, T.; Luce, M.; Frank, T.S.; Nevanlinna, H. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum. Mol. Genet. 1997, 6 (13), 2309-2315.
31. Ghaderi, A.; Talei, A.; Farjadian, S.; Mosalaei, A.; Doroudchi, M.; Kimura, H. Germline BRCA1 mutations in Iranian women with breast cancer. Cancer Letters 2001, 165, 87-94.
32. Saxena, S.; Szabo, C.I.; Chopin, S.; Barjhoux, L.; Sinilnikova, O.; Lenoir, G.; Goldgar, D.E.; Bhataneger, D. BRCA1 and BRCA2 in Indian breast cancer patients. Hum. Mutat. 2002, Mutation in Brief#553 Online.
33. Xiangcheng, Z.; Szabo, C.; Chopin, S.; Suter, N.; Wang, Q.-S.; Ostrander, E.A.; Sinilnikova, O.M.; Lenoir, G.M.; Goldgar, D.; Shi, Y.-R. BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. Hum. Mutat. 2002, Mutation in Brief#554 Online.
34. Teng, D.H.; Bogden, R.; Mitchell, J.; Baumgard, M.; Bell, R.; Berry, S.; Davis, T.; Ha, P.C.; Kehrer, R., Jammulapati, S., Chen, Q., Offit, K.; Skolnick, M.H.; Tavtigian, S.V.; Jhanwar, S.; Swedlund, B.; Wong, A.K.; Kamb, A. Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat. Genet. 1996, June, 13 (2), 241-244.
35. Wagner, T.M.; Hirtenlehner, K.; Shen, P.; Moeslinger, R.; Muhr, D.; Fleischmann, E.; Concin, H.; Doeller, W.; Haid, A.; Lang, A.H.; Mayer, P.; Petru, E.; Ropp, E.; Langbauer, G.; Kubista, E.; Scheiner, O.; Underhill, P.; Mountain, J.; Stierer, M.; Zielinski, C.; Oefner, P. Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum. Mol. Genet. 1999, Mar, 8 (3), 413-423.
36. Dunning, A.M.; Chiano, M.; Smith, N.R.; Dearden, J.; Gore, M.; Oakes, S.; Wilson, C.; Stratton, M.; Peto, J.; Easton, D.; Clayton, D.; Ponder, B.A. Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population. Hum. Mol. Genet. 1997, Feb, 6 (2), 285-289.
37. Goode, E.L.; Ulrich, C.M.; Potter, J.D. Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol. Biomarkers Prev. 2002, 11 (12), 1513-1530.
38. Ishitobi, M.; Miyoshi, Y.; Ando, A.; Hasegawa, S.; Egawa, C.; Tamaki, Y.; Monden, M.; Noguchi, S. Association of BRCA2 polymorphism at codon 784 (Met/Val) with breast cancer risk and prognosis. Clin. Cancer Res. 2003, 9 (4), 1376-1380.
39. Wenham, R.M.; Schildkraut, J.M.; McLean, K.; Calingaert, B.; Bentley, R.C.; Marks, J.; Berchuck, A. Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer. Clin. Cancer Res. 2003, 1; 9 (12), 4396-4403.
40. Spurdle, A.B.; Hopper, J.L.; Chen, X.; Dite, G.S.; Cui, J.; McCredie, M.R.; Giles, G.G.; Ellis-Steinborder, S.; Venter, D.J.; Newman, B.; Southey, M.C.; Chenevix-Trench, G. The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years. Cancer Epidemiol. Biomarkers Prev. 2002, 11 (4), 413-416.
41. Auranen, A.; Spurdle, A.B.; Chen, X.; Lipscombe, J.; Purdie, D.M.; Hopper, J.L.; Gren, A.; Healey, C.S.; Redman, K.; Dunning, A.M.; Pharoah, P.D.; Easton, D.F.; Ponder, B.A.; Chenevix-Trench, G.; Novik, K.L. BRCA2 Arg372His polymorphism and epithelial ovarian cancer risk. Int. J. Cancer 2003, 20; 103 (3), 427-430.
42. Liu, HX.; Cartegni, L.; Zhang, MQ.; Krainer, AR. A mechanism-for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat. Genet. 2001, Jan; 27 (1), 55-58.
43. Moslei, R.; Russo, D.; Phelan, C.; Jack, E.; Antman, K.; Narod, S. An unaffected individual from a breast/ovarian cancer family with germline mutations in both BRCA1 and BRCA2. Clin. Genet. 2000, 57, 70-73.
44. Hartge, P.; Struewing, J.P.; Wacholder, S.; Brody, L.C.; Tucker, M.A. The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am. J. Hum. Genet. 1999, 64, 963-970.
45. Warner, E.; Foulnes, W.; Goodwin, P.; Meschino, W.; Blondal, J.; Paterson, C.; Ozcelik, H.; Goss, P.; Allingham-Hawkins, D.; Hamel, N.; Di Prospero, L.; Contiga, V.; Serruya, C.; Klein, M.; Moslehi, R.; Honeyford, J.; Liede, A.; Glendon, G.; Brunet, J.S.; Narod, S. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J. Natl. Cancer Inst. 1999, 91, 1241-1247.
46. Modan, B.; Hartge, P.; Hirsh-Yechezhel, G.; Chetrit, A.; Lubin, F.; Beller, U.; Ben-Baruch, G.; Fishman, A.; Menczer, J.; Ebbers, S.M.; Tucker, M.A.; Wacholder, S.; Struewing, J.P.; Friedman, E.; Piura, B. Parity, oral contraseptives, and the risk of ovarian cancer among carriers of a BRCA1 and BRCA2 mutation. N. Eng. J. Med. 2001, 345, 235-240.
47. Apicella, C.; Andrews, L.; Hodgson, S.V.; Fisher, S.A.; Lewis, C.M.; Solomon, E.; Tucker, K.; Friedlander, M.; Bankier, A.; Southey, M.C.; Venter, D.J.; Hopper, J.L. Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA). Breast Cancer Res. 2003, 5 (6), 206-216.
48. Arason, A.; Jonasdottir, A.; Barkardottir, R.B.; Bergthorsson, J.T.; Teare, M.D.; Easton, D.F.; Egilsson, V. A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland. J. Med. Genet. 1998, June; 35 (6), 446-449.
49. Huusko, P.; Paakkonen, K.; Launonen, V.; Poyhonen, M.; Blanco, G.; Kauppila, A.; Puistola, U.; Kiviniemi, H.; Kujala, M.; Leisti, J.; Winqvist, R. Evidence of founder mutations in Finnish BRCA1 and BRCA2 families. Am. J. Hum. Genet. 1998, Jun; 62 (6), 1544-1548.
50. Peelen, T.; van Vliet, M.; Petrij-Bosch, A.; Mieremet, R.; Szabo, C.; van den Ouweland, A.M.; Hogervorst, F.; Brohet, R.; Ligtenberg, M.J.; Teugels, E.; van der Luijt, R.; van der Hout, A.H.; Gille, J.J.; Pals, G.; Jedema, I.; Olmer, R.; van Leeuwen, I.; Newman, B.; Plandsoen, M.; van der Est, M.; Brink, G.; Hageman, S.; Arts, P.J.; Bakker, M.M.; Devilee, P. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am. J. Hum. Genet. 1997, May 60 (5), 1041-1049.