Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece

Hereditary Cancer in Clinical Practice

Volumn 9, Issue 1, 2011, Pages

  Koumpis, Chrissovaladis ^a   Dimitrakakis, Constantine ^a   Antsaklis, Aris ^a   Royer, Robert ^b   Zhang, Shiyu ^b   Narod, Steven A ^b   Kotsopoulos, Joanne ^b  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b WOMEN S COLLEGE HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER INCIDENCE; CANCER PATIENT; CANCER SUSCEPTIBILITY; COPY NUMBER VARIATION; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC RISK; GREECE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; SEQUENCE ANALYSIS;

EID: 84862147236     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-9-10     Document Type: Article

References (29)

1. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007, 25:1329-1333. 10.1200/JCO.2006.09.1066, 2267287, 17416853.
2. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994, 343:692-695. 10.1016/S0140-6736(94)91578-4, 7907678.
3. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003, 72:1117-1130. 10.1086/375033, 1180265, 12677558.
4. Robson ME. Clinical considerations in the management of individuals at risk for hereditary breast and ovarian cancer. Cancer Control 2002, 9:457-465.
5. Thompson D, Easton DF. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002, 94:1358-1365. 10.1093/jnci/94.18.1358, 12237281.
6. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999, 91:1310-1316. 10.1093/jnci/91.15.1310, 10433620.
7. Narod S, Ford D, Devilee P, Barkardottir RB, Eyfjord J, Lenoir G, Serova O, Easton D, Goldgar D. Genetic heterogeneity of breast-ovarian cancer revisited. Breast Cancer Linkage Consortium. Am J Hum Genet 1995, 57:957-958. 1801508, 7573057.
8. Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004, 4:665-676. 10.1038/nrc1431, 15343273.
9. Metcalfe KA, Snyder C, Seidel J, Hanna D, Lynch HT, Narod S. The use of preventive measures among healthy women who carry a BRCA1 or BRCA2 mutation. Fam Cancer 2005, 4:97-103. 10.1007/s10689-005-4215-3, 15951959.
10. Warner E, Causer PA. MRI surveillance for hereditary breast-cancer risk. Lancet 2005, 365:1747-1749. 10.1016/S0140-6736(05)66520-8, 15910935.
11. Konstantopoulou I, Kroupis C, Ladopoulou A, Pantazidis A, Boumba D, Lianidou ES, Petersen MB, Florentin L, Chiotellis E, Nounesis G, et al. BRCA1 mutation analysis in breast/ovarian cancer families from Greece. Hum Mutat 2000, 16:272-273. 10.1002/1098-1004(200009)16:3<272::AID-HUMU17>3.0.CO;2-4, 10980541.
12. Armakolas A, Ladopoulou A, Konstantopoulou I, Pararas B, Gomatos IP, Kataki A, Konstadoulakis MM, Stathopoulos GP, Markopoulos C, Leandros E, et al. BRCA2 gene mutations in Greek patients with familial breast cancer. Hum Mutat 2002, 19:81-82.
13. Ladopoulou A, Kroupis C, Konstantopoulou I, Ioannidou-Mouzaka L, Schofield AC, Pantazidis A, Armaou S, Tsiagas I, Lianidou E, Efstathiou E, et al. Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed. Cancer Lett 2002, 185:61-70. 10.1016/S0304-3835(01)00845-X, 12142080.
14. Belogianni I, Apessos A, Mihalatos M, Razi E, Labropoulos S, Petounis A, Gaki V, Keramopoulos A, Pandis N, Kyriacou K, et al. Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer. BMC Cancer 2004, 4:61. 10.1186/1471-2407-4-61, 520816, 15353005.
15. Kataki A, Gomatos I, Pararas N, Armakolas A, Panousopoulos D, Karantzikos G, Voros D, Zografos G, Markopoulos C, Leandros E, Konstadoulakis M. Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate-risk and low-risk individuals--correlation with clinicopathological data. Clin Genet 2005, 67:322-329. 10.1111/j.1399-0004.2004.00400.x, 15733268.
16. Konstantopoulou I, Rampias T, Ladopoulou A, Koutsodontis G, Armaou S, Anagnostopoulos T, Nikolopoulos G, Kamakari S, Nounesis G, Stylianakis A, et al. Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients. Breast Cancer Res Treat 2008, 107:431-441. 10.1007/s10549-007-9571-2, 17453335.
17. Kuperstein G, Foulkes WD, Ghadirian P, Hakimi J, Narod SA. A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes. Clin Genet 2000, 57:213-220.
18. Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 2007, 7:937-948. 10.1038/nrc2054, 18034184.
19. Armaou S, Pertesi M, Fostira F, Thodi G, Athanasopoulos PS, Kamakari S, Athanasiou A, Gogas H, Yannoukakos D, Fountzilas G, Konstantopoulou I. Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases. Br J Cancer 2009, 101:32-37. 10.1038/sj.bjc.6605115, 2713692, 19491894.
20. Jobling MA, Tyler-Smith C. The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 2003, 4:598-612.
21. Hamel N, Feng BJ, Foretova L, Stoppa-Lyonnet D, Narod SA, Imyanitov E, Sinilnikova O, Tihomirova L, Lubinski J, Gronwald J, et al. On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations. Eur J Hum Genet 2011, 19:300-306. 10.1038/ejhg.2010.203, 21119707.
22. Neuhausen SL. Founder populations and their uses for breast cancer genetics. Breast Cancer Res 2000, 2:77-81. 10.1186/bcr36, 139426, 11250694.
23. Ferla R, Calo V, Cascio S, Rinaldi G, Badalamenti G, Carreca I, Surmacz E, Colucci G, Bazan V, Russo A. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol 2007, 18(Suppl 6):vi93-98.
24. Tulinius H, Olafsdottir GH, Sigvaldason H, Arason A, Barkardottir RB, Egilsson V, Ogmundsdottir HM, Tryggvadottir L, Gudlaugsdottir S, Eyfjord JE. The effect of a single BRCA2 mutation on cancer in Iceland. J Med Genet 2002, 39:457-462. 10.1136/jmg.39.7.457, 1735175, 12114473.
25. Gorski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzanska A, Bebenek M, Fischer-Maliszewska L, Grzybowska E, et al. Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet 2000, 66:1963-1968. 10.1086/302922, 1378051, 10788334.
26. Tonin PN, Mes-Masson AM, Futreal PA, Morgan K, Mahon M, Foulkes WD, Cole DE, Provencher D, Ghadirian P, Narod SA. Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet 1998, 63:1341-1351. 10.1086/302099, 1377544, 9792861.
27. Tonin P, Serova O, Lenoir G, Lynch H, Durocher F, Simard J, Morgan K, Narod S. BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet 1995, 57:189. 1801236, 7611288.
28. Anagnostopoulos T, Pertesi M, Konstantopoulou I, Armaou S, Kamakari S, Nasioulas G, Athanasiou A, Dobrovic A, Young MA, Goldgar D, et al. G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history. Breast Cancer Res Treat 2008, 110:377-385. 10.1007/s10549-007-9729-y, 17902052.
29. Berry DA, Iversen ES, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, Lerman C, Watson P, Lynch HT, Hilsenbeck SG, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol 2002, 20:2701-2712. 10.1200/JCO.2002.05.121, 12039933.