BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families

Breast Cancer Research

Volumn 8, Issue 1, 2005, Pages

  Antoniou, Antonis C ^a   Durocher, Francine ^b   Smith, Paula ^a   Simard, Jacques ^b   Easton, Douglas F ^a   Bessette, Paul ^c   Bridge, Peter ^d   Chiquette, Jocelyne ^b   Ptovencher, Louise ^b   Laframboise, Rachel ^b   Lépine, Jean ^e   Lespérance, Bernard ^f   Pichette, Roxane ^f   Plante, Marie ^b   Voyer, Patricia ^g  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b LAVAL UNIVERSITY   (Canada)

^c CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^d ALBERTA CHILDREN'S HOSPITAL   (Canada)

^e Centre Hospitalier Regional de Rimouski   (Canada)

^f HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

^g Clinique des Maladies du Sein   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ACCURACY; ADULT; AGE; AGED; ARTICLE; BREAST CANCER; CANADA; CANCER RISK; COMPUTER PROGRAM; CONTROLLED STUDY; FAMILY; GENE MUTATION; GENETIC RISK; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MAXIMUM LIKELIHOOD METHOD; OVARY CANCER; PENETRANCE; PREDICTION; PROBABILITY; RISK ASSESSMENT; ROC CURVE; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY; STATISTICAL MODEL;

EID: 33646815890     PISSN: 1465542X     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/bcr1365     Document Type: Article

References (50)

1. 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.
2. Easton DF, Ford D, Bishop DT: Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 1995, 56:265-271.
3. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, et al.: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998, 62:676-689.
4. Hopper JL, Southey MC, Dite GS, Jolley DJ, Giles GG, McCredie MR, Easton DF, Venter DJ: Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev 1999, 8:741-747.
5. King MC, Marks JH, Mandell JB: Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003, 302:643-646.
6. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, et al.: Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001, 68:700-710.
7. Satagopan JM, Offit K, Foulkes W, Robson ME, Wacholder S, Eng CM, Karp SE, Begg CB: The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev 2001, 10:467-473.
8. Satagopan JM, Boyd J, Kauff ND, Robson M, Scheuer L, Narod S, Offit K: Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Clin Cancer Res 2002, 8:3776-3781.
9. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, Brody LC, Tucker MA: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997, 336:1401-1408.
10. Thompson D, Easton D: Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001, 68:410-419.
11. Thompson D, Easton D: Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev 2002, 11:329-336.
12. Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, Ozcelik H, Goss P, Allingham-Hawkins D, Hamel N, et al.: 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.
13. Thorlacius S, Struewing JP, Hartge P, Olafsdottir GH, Sigvaldason H, Tryggvadottir L, Wacholder S, Tulinius H, Eyfjord JE: Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 1998, 352:1337-1339.
14. Antoniou AC, Pharoah PP, Smith P, Easton DF: The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 2004, 91:1580-1590.
15. Claus EB, Risch N, Thompson WD: Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 1994, 73:643-651.
16. Parmigiani G, Berry D, Aguilar O: Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998, 62:145-158.
17. Tyrer J, Duffy SW, Cuzick J: A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 2004, 23:1111-1130.
18. Neuhausen S, Gilewski T, Norton L, Tran T, McGuire P, Swensen J, Hampel H, Borgen P, Brown K, Skolnick M, et al.: Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 1996, 13:126-128.
19. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, Brody LC: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995, 11:198-200.
20. Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjord JE: A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 1996, 13:117-119.
21. Charbonneau H, Desjardins B, Légaré J, Denis H: The population of the St. Lawrence valley, 1608-1760. In A Population History of North America Edited by: Haines MR, Steckel RH. New York: Cambridge University Press; 2000:99-142.
22. Scriver CR: Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2001, 2:69-101.
23. Oros KK, Ghadirian P, Greenwood CM, Perret C, Shen Z, Paredes Y, Arcand SL, Mes-Masson AM, Narod SA, Foulkes WD, et al.: Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations. Int J Cancer 2004, 112:411-419.
24. Simard J, Dumont M, Moisan A-M, Durocher F, Laframboise R, Plante M, Chiquette J, Lesperance B, Pichette R, Lepine J: Molecular epidemiology of BRCA1 and BRCA2 mutations in French Canadian breast/ovarian families [abstract]. The 54th Annual Meeting of the American Society of Human Genetics, Toronto, Ontario, Canada, October 26-30 2004 [http://www.ashg.org/cgi-bin/ashg04s/ashg04]. (abstract number 480)
25. Vezina H, Durocher F, Houde L, Dumont M, Tranchant M, Gobeil L, Simard J, INHERIT BRCAs: Molecular and genealogical analyses of 8765delAG, a BRCA2 founder mutation in high-risk French Canadian families [abstract]. The 54th Annual Meeting of the American Society of Human Genetics, Toronto, Ontario, Canada, October 26-30 2004 [http://www.ashg.org/ cgi-bin/ashg04s/ashg04]. (abstract number 1647)
26. Vezina H, Durocher F, Dumont M, Houde L, Szabo C, Tranchant M, Chiquette J, Plante M, Laframboise R, Lepine J, et al.: Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. Hum Genet 2005, 117:119-132.
27. Apicella C, Andrews L, Hodgson SV, Fisher SA, Lewis CM, Solomon E, Tucker K, Friedlander M, Bankier A, Southey MC, et al.: 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:R206-R216.
28. Couch FJ, DeShano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, Ganguly A, Rebbeck T, Weber BL: BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 1997, 336:1409-1415.
29. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, et al.: Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002, 20:1480-1490.
30. Berry DA, Parmigiani G, Sanchez J, Schildkraut J, Winer E: Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 1997, 89:227-238.
31. Avard D, Bridge P, Bucci LM, Chiquette J, Dorval M, Durocher F, Easton D, Godard B, Goldgar D, Knoppers BM: Partnering in oncogenetics research - the INHERIT BRCAs experience: opportunities and challenges. Fam Cancer 2005 in press.
32. Simard J, Joly Y, Durocher F, Knoppers BM: Les enjeux éthiques du partage des résultats de recherche: L'expérience d'INHERIT BRCAs [in French]. In La Recherche en Génétique et en Génomique: Droits et Responsabilités. Trans: The ethical stakes of sharing research results: The INHERIT BRCAs experience in Research in Genetics and Genomics: Rights and Responsibilities Edited by: Philips-Nootens S, Godard B, Knoppers BM, Régnier M-H. Montréal: Les Éditions Thémis; 2005.
33. Jeanpierre M: A rapid method for the purification of DNA from blood. Nucleic Acids Res 1987, 15:9611.
34. Lange K, Weeks D, Boehnke M: Programs for pedigree analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol 1988, 5:471-472.
35. Cannings C, Thompson EA: Ascertainment in the sequential sampling of pedigrees. Clin Genet 1977, 12:208-212.
36. Berry DA, Iversen ES Jr, 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.
37. BayesMendel [http://astor.som.jhmi.edu/BayesMendel/]
38. R-project [http://www.r-project.org/]
39. Brier GW: Verification of forecasts expressed in terms of probability. Monthly Weather Rev 1950, 78:1-3.
40. Spiegelhalter DJ: Probabilistic prediction in patient management and clinical trials. Stat Med 1986, 5:421-433.
41. Narod SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA, Ponder BA, Weber BL, Garber JE, Birch JM, et al.: An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. Am J Hum Genet 1995, 56:254-264.
42. Antoniou AC, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Olsson H, Johannsson O, Borg A, Pasini B, et al.: Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet 2005, 42:602-603.
43. Evans DG, Eccles DM, Rahman N, Young K, Bulman M, Amir E, Shenton A, Howell A, Lalloo F: A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet 2004, 41:474-480.
44. Lalloo F, Varley J, Ellis D, Moran A, O'Dair L, Pharoah P, Evans DG: Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet 2003, 361:1101-1102.
45. Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, Easton DF, Evans C, Deacon J, Stratton MR: Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 1999, 91:943-949.
46. The Breast Cancer Linkage Consortium: Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999, 91:1310-1316.
47. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, Hoogerbrugge N, Verhoef S, Vasen HF, Ausems MG, Menko FH, Gomez Garcia EB, Klijn JG, et al.: Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet 2005, 42:711-719.
48. Anglian Breast Cancer Study Group: Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 2000, 83:1301-1308.
49. Chappuis PO, Hamel N, Paradis AJ, Deschenes J, Robidoux A, Potvin C, Cantin J, Tonin P, Ghadirian P, Foulkes WD: Prevalence of founder BRCA1 and BRCA2 mutations in unselected French Canadian women with breast cancer. Clin Genet 2001, 59:418-423.
50. Tonin PM, Mes-Masson AM, Narod SA, Ghadirian P, Provencher D: Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history. Clin Genet 1999, 55:318-324.