Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia

Hereditary Cancer in Clinical Practice

Volumn 12, Issue 1, 2014, Pages

  Hernández, Julián Esteban L ^a   Llacuachaqui, Marcia ^b   Palacio, Gonzalo V ^a   Figueroa, Juan D ^c   Madrid, Jorge ^d   Lema, Mauricio ^e   Royer, Robert ^b   Li, Song ^b   Larson, Garrett ^f   Weitzel, Jeffrey N ^f   Narod, Steven A ^b  

^a UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^b WOMEN S COLLEGE HOSPITAL   (Canada)

^c Pablo Tobon Hospital   (Colombia)

^d Clinica Las Americas   (Colombia)

^e Clínica de Oncología Astorga Clínica SOM   (Colombia)

^f CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

BRCA1; BRCA2; Breast cancer; Colombia; Hereditary

Indexed keywords

EID: 84899478727     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-12-11     Document Type: Article

References (29)

1. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, 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.
2. King MC, Marks JH, Mandell JB, . New York Breast Cancer Study Group Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003, 302:643-646. 10.1126/science.1088759, 14576434, New York Breast Cancer Study Group.
3. Thompson D, Easton D, . Breast Cancer Linkage Consortium Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001, 68:410-419. 10.1086/318181, 1235274, 11170890, Breast Cancer Linkage Consortium.
4. Thompson D, Easton D, . Breast Cancer Linkage Consortium Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 2002, 11:329-336. Breast Cancer Linkage Consortium.
5. 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.
6. Globocan 2002. Int Agen Res Cancer http://www-dep.iarc.fr/.
7. 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.
8. Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004, 4:665-676. 10.1038/nrc1431, 15343273.
9. Warner E, Causer PA. MRI surveillance for hereditary breast-cancer risk. Lancet 2005, 365:1747-1749. 10.1016/S0140-6736(05)66520-8, 15910935.
10. Weitzel JN, Buys SS, Sherman WH, Daniels AM, Ursin G, Daniels JR, MacDonald DJ, Blazer KR, Pike MC, Spicer DV. Reduced mammographic density with use of a gonadotropin-releasing hormone agonist-based chemoprevention regimen in BRCA1 carriers. Clin Cancer Res 2007, 13:654-658. 10.1158/1078-0432.CCR-06-1902, 17255289.
11. Tutt A, Robson M, Garber JE, Domchek SM, Audeh MW, Weitzel JN, Friedlander M, Arun B, Loman N, Schmutzler RK, Wardley A, Mitchell G, Earl H, Wickens M, Carmichael J. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 2010, 376:235-244. 10.1016/S0140-6736(10)60892-6, 20609467.
12. Tonin P, Weber B, Offit K, Couch F, Rebbeck TR, Neuhausen S, Godwin AK, Daly M, Wagner-Costalos J, Berman D, Grana G, Fox E, Kane MF, Kolodner RD, Krainer M, Haber DA, Struewing JP, Warner E, Rosen B, Lerman C, Peshkin B, Norton L, Serova O, Foulkes WD, Garber JE. Frequency of recurrent BRCA1 and BRCA2 mutations in ashkenazi jewish breast cancer families. Nat Med 1996, 2:1179-1183. 10.1038/nm1196-1179, 8898735.
13. Warner E, Foulkes 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 JS, 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. 10.1093/jnci/91.14.1241, 10413426.
14. Donenberg T, Lunn J, Curling D, Turnquest T, Krill-Jackson E, Royer R, Narod SA, Hurley J. A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. Breast Cancer Res Treat 2011, 125:591-596. 10.1007/s10549-010-1156-9, 20838878.
15. Gorski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzanska A, Bebenek M, Fischer-Maliszewska L, Grzybowska E, Narod SA, Lubinski J. 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.
16. Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, Jungbluth C, Cina C, Duncan P, Unzeitig G, Saldivar JS, Beattie M, Feldman N, Sand S, Port D, Barragan DI, John EM, Neuhausen SL, Larson GP. Prevalence and type of BRCA mutations in hispanics undergoing genetic cancer risk assessment in the southwestern united states: a report from the clinical cancer genetics community research network. J Clin Oncol 2013, 31:210-216. 10.1200/JCO.2011.41.0027, 3532393, 23233716.
17. Weitzel JN, Lagos V, Blazer KR, Nelson R, Ricker C, Herzog J, McGuire C, Neuhausen S. Prevalence of BRCA mutations and founder effect in high-risk hispanic families. Cancer Epidemiol Biomarkers Prev 2005, 14:1666-1671. 10.1158/1055-9965.EPI-05-0072, 16030099.
18. Weitzel JN, Lagos VI, Herzog JS, Judkins T, Hendrickson B, Ho JS, Ricker CN, Lowstuter KJ, Blazer KR, Tomlinson G, Scholl T. Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk hispanic families. Cancer Epidemiol Biomarkers Prev 2007, 16:1615-1620. 10.1158/1055-9965.EPI-07-0198, 17646271.
19. 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.
20. Narod SA. Screening for BRCA1 and BRCA2 mutations in breast cancer patients from Mexico: the public health perspective. Salud Publica Mex 2009, 51:s191-s196.
21. Torres D, Rashid MU, Gil F, Umana A, Ramelli G, Robledo JF, Tawil M, Torregrosa L, Briceno I, Hamman U. High proportion of BRCA1/2 founder mutations in hispanic breast/ovarian cancer families from colombia. Breast Cancer Res Treat 2007, 103:225-232. 10.1007/s10549-006-9370-1, 17080309.
22. Torres D, Umaña A, Robledo JF, Caicedo JJ, Quintero E, Orozco A, Torregrosa L, Tawil M, Hamman U, Briceno I. Estudio de factores genéticos para cáncer de mama en Colombia. Univ Med Bogotá (Colombia) 2009, 50:297-301.
23. Rodríguez AO, Llacuachaqui M, Pardo GG, Royer R, Larson G, Weitzel JN, Narod SA. BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. Gynecol Oncol 2012, 124:236-243. 10.1016/j.ygyno.2011.10.027, 22044689.
24. Kuperstein G, Jack E, Narod SA. A fluorescent multiplex-DGGE screening test for mutations in the BRCA1 gene. Genet Test 2006, 10:1-7. 10.1089/gte.2006.10.1, 16544996.
25. Weitzel J. Ancestry-informed strategies for genetic cancer risk assessment, screening and prevention: adapting the lessons to underserved latinas 2010, San Antonio, TX: 33rd Annual San Antonio Breast Cancer Symposium.
26. de la Hoya M, Osorio A, Godino J, Sulleiro S, Tosar A, Perez-Segura P, Fernandez C, Rodriguez R, Diaz-Rubio E, Benitez J, Devilee P, Caldes T. Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. Int J Cancer 2002, 97:466-471. 10.1002/ijc.1627, 11802208.
27. Gomes MC, Costa MM, Borojevic R, Monteiro AN, Vieira R, Koifman S, Li S, Royer R, Zhang S, Narod SA. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat 2007, 103:349-353. 10.1007/s10549-006-9378-6, 17063270.
28. Gonzalez-Hormazabal P, Gutierrez-Enriquez S, Gaete D, Reyes JM, Peralta O, Waugh E, Gomez F, Margarit S, Bravo T, Blanco R, Diez O, Jara L. Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer chilean families. Breast Cancer Res Treat 2011, 126:705-716. 10.1007/s10549-010-1170-y, 20859677.
29. Bosetti C, Rodriguez T, Chatenoud L, Bertuccio P, Levi F, Negri E, La Vecchia C. Trends in cancer mortality in Mexico, 1981-2007. Eur J Cancer Prev 2011, 20:355-363. 10.1097/CEJ.0b013e32834653c9, 21464718.