메뉴 건너뛰기




Volumn 44, Issue 2, 2007, Pages 107-121

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

(39)  Simard, Jacques a   Dumont, Martine a   Moisan, Anne Marie a   Gaborieau, Valérie b   Vézina, Hélène c   Durocher, Francine a   Chiquette, Jocelyne a   Plante, Marie a   Avard, Denise d   Bessette, Paul e   Brousseau, Claire a   Dorval, Michel a   Godard, Béatrice d   Houde, Louis c   Joly, Yann d   Lajoie, Marie Andrée a   Leblanc, Gilles a   Lépine, Jean f   Lespérance, Bernard g   Malouin, Hélène a   more..


Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

EID: 33847259648     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.044388     Document Type: Article
Times cited : (69)

References (65)
  • 1
    • 0035888074 scopus 로고    scopus 로고
    • Estimating the world cancer burden: Globocan 2000
    • Parkin DM, Bray F, Ferlay J, Pisani P. Estimating the world cancer burden: Globocan 2000. Int J Cancer 2001;94:153-6.
    • (2001) Int J Cancer , vol.94 , pp. 153-156
    • Parkin, D.M.1    Bray, F.2    Ferlay, J.3    Pisani, P.4
  • 2
    • 12244303612 scopus 로고    scopus 로고
    • Research priorities for evaluating family history in the prevention of common chronic diseases
    • Yoon PW, Scheuner MT, Khoury MJ. Research priorities for evaluating family history in the prevention of common chronic diseases. Am J Prev Med 2003;24:128-35.
    • (2003) Am J Prev Med , vol.24 , pp. 128-135
    • Yoon, P.W.1    Scheuner, M.T.2    Khoury, M.J.3
  • 5
    • 8144225291 scopus 로고    scopus 로고
    • Association studies for finding cancer-susceptibility genetic variants
    • Pharoah PD, Dunning AM, Ponder BA, Easton DF. Association studies for finding cancer-susceptibility genetic variants. Nat Rev Cancer 2004;4:850-60.
    • (2004) Nat Rev Cancer , vol.4 , pp. 850-860
    • Pharoah, P.D.1    Dunning, A.M.2    Ponder, B.A.3    Easton, D.F.4
  • 6
    • 33847309013 scopus 로고    scopus 로고
    • Familial breast cancer: The classification and care of women at risk of familial breast cancer in primary
    • National Institute for Health and Clinical Excellence, accessed 25 Nov
    • National Institute for Health and Clinical Excellence. Familial breast cancer: the classification and care of women at risk of familial breast cancer in primary, secondary and tertiary care (clinical guideline number 14). 2004. http://www.nice.org.uk/pdf/CG014niceguideline.pdf (accessed 25 Nov 2006).
    • (2004) secondary and tertiary care (clinical guideline , Issue.14
  • 7
    • 0035960431 scopus 로고    scopus 로고
    • Familial breast cancer: Collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease
    • Collaborative Group on Hormonal Factors in Breast Cancer
    • Collaborative Group on Hormonal Factors in Breast Cancer. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 2001;358:1389-99.
    • (2001) Lancet , vol.358 , pp. 1389-1399
  • 8
    • 8744316712 scopus 로고    scopus 로고
    • Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans
    • Hemminki K, Eng C. Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans. J Med Genet 2004;41:801-7.
    • (2004) J Med Genet , vol.41 , pp. 801-807
    • Hemminki, K.1    Eng, C.2
  • 9
    • 85057507794 scopus 로고    scopus 로고
    • Genetics and the common cancers
    • Eeles RA, Easton DF, Ponder BAJ, Eng C, eds, New York: Oxford University Press
    • Houlston RS, Peto J. Genetics and the common cancers. In: Eeles RA, Easton DF, Ponder BAJ, Eng C, eds. Genetic predisposition to cancer. New York: Oxford University Press, 2004:235-47.
    • (2004) Genetic predisposition to cancer , pp. 235-247
    • Houlston, R.S.1    Peto, J.2
  • 11
    • 0033667308 scopus 로고    scopus 로고
    • High constant incidence in twins and other relatives of women with breast cancer
    • Peto J, Mack TM. High constant incidence in twins and other relatives of women with breast cancer. Nat Genet 2000;26:411-14.
    • (2000) Nat Genet , vol.26 , pp. 411-414
    • Peto, J.1    Mack, T.M.2
  • 14
    • 13344269668 scopus 로고    scopus 로고
    • Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE. The complete BRCA2 gene and mutations in chromosome 13q-linkea kindreds. Nat Genet 1996;12:333-7.
    • Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE. The complete BRCA2 gene and mutations in chromosome 13q-linkea kindreds. Nat Genet 1996;12:333-7.
  • 18
    • 24644456397 scopus 로고    scopus 로고
    • Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Recommendation statement
    • US Preventive Services Task Force
    • US Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 2005;143:355-61.
    • (2005) Ann Intern Med , vol.143 , pp. 355-361
  • 19
    • 0034468130 scopus 로고    scopus 로고
    • Founder populations and their uses for breast cancer genetics
    • Neuhausen SL. Founder populations and their uses for breast cancer genetics. Breast Cancer Res 2000;2:77-81.
    • (2000) Breast Cancer Res , vol.2 , pp. 77-81
    • Neuhausen, S.L.1
  • 22
    • 0029908096 scopus 로고    scopus 로고
    • Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites
    • Durocher F, Tonin P, Shattuck-Eidens D, Skolnick M, Narod SA, Simard J. Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites. J Med Genet 1996;33:814-19.
    • (1996) J Med Genet , vol.33 , pp. 814-819
    • Durocher, F.1    Tonin, P.2    Shattuck-Eidens, D.3    Skolnick, M.4    Narod, S.A.5    Simard, J.6
  • 26
    • 0038744296 scopus 로고    scopus 로고
    • 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, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. 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;72:1117-30.
    • 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, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. 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;72:1117-30.
  • 27
    • 0035776760 scopus 로고    scopus 로고
    • Human genetics: Lessons from Quebec populations
    • Scriver CR. Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2001;2:69-101.
    • (2001) Annu Rev Genomics Hum Genet , vol.2 , pp. 69-101
    • Scriver, C.R.1
  • 29
    • 33646815890 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families
    • Antoniou AC, Durocher F, Smith P, Simard J, Easton DF. BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families. Breast Cancer Res 2006;8:R3.
    • (2006) Breast Cancer Res , vol.8
    • Antoniou, A.C.1    Durocher, F.2    Smith, P.3    Simard, J.4    Easton, D.F.5
  • 30
    • 33646446067 scopus 로고    scopus 로고
    • Risk prediction models for familial breast cancer
    • Antoniou AC, Easton DF. Risk prediction models for familial breast cancer. Future Oncol 2006;2:257-74.
    • (2006) Future Oncol , vol.2 , pp. 257-274
    • Antoniou, A.C.1    Easton, D.F.2
  • 31
    • 0031029633 scopus 로고    scopus 로고
    • Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history
    • 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;89:227-38.
    • (1997) J Natl Cancer Inst , vol.89 , pp. 227-238
    • Berry, D.A.1    Parmigiani, G.2    Sanchez, J.3    Schildkraut, J.4    Winer, E.5
  • 32
    • 7944237307 scopus 로고    scopus 로고
    • The BOADICEA model of genetic susceptibility to breast and ovarian cancer
    • Antoniou AC, Pharoah PP, Smith P, Easton DF. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 2004;91:1580-90.
    • (2004) Br J Cancer , vol.91 , pp. 1580-1590
    • Antoniou, A.C.1    Pharoah, P.P.2    Smith, P.3    Easton, D.F.4
  • 34
    • 33644872552 scopus 로고    scopus 로고
    • Update on the Manchester Scoring System for BRCA1 and BRCA2 testing
    • Evans DG, Lalloo F, Wallace A, Rahman N. Update on the Manchester Scoring System for BRCA1 and BRCA2 testing. J Med Genet 2005;42:e39.
    • (2005) J Med Genet , vol.42
    • Evans, D.G.1    Lalloo, F.2    Wallace, A.3    Rahman, N.4
  • 35
    • 0032445899 scopus 로고    scopus 로고
    • Hereditary risk of breast and ovarian carcinoma: The role of the oncologist
    • Frank TS. Hereditary risk of breast and ovarian carcinoma: the role of the oncologist. Oncologist 1998;3:403-12.
    • (1998) Oncologist , vol.3 , pp. 403-412
    • Frank, T.S.1
  • 37
    • 33745601486 scopus 로고    scopus 로고
    • Les enjeux éthiaues du partage des résultats de recherche: L'expérience d'INHERIT BRCAs
    • Philips-Nootens S, Godard B, Knoppers BM, Régnier MH, eds, Montréal: Les Éditions Tnémis
    • Simard J, Joly Y, Durocher F, Knoppers BM. Les enjeux éthiaues du partage des résultats de recherche: L'expérience d'INHERIT BRCAs. In: Philips-Nootens S, Godard B, Knoppers BM, Régnier MH, eds. La recherche en génétique et en génomique: droits et responsabilités. Montréal: Les Éditions Tnémis, 2005:103-39.
    • (2005) La recherche en génétique et en génomique: Droits et responsabilités , pp. 103-139
    • Simard, J.1    Joly, Y.2    Durocher, F.3    Knoppers, B.M.4
  • 39
    • 33847330040 scopus 로고    scopus 로고
    • Les enjeux éthiques de l'identification d'une susceptibilité génétique au cancer du sein dans un contexte de recherche clinique intégrée
    • Hervé C, Knoppers BM, Molinari PA, eds, Paris: Dalloz
    • Godard B, Simard J, INHERIT BRCAs. Les enjeux éthiques de l'identification d'une susceptibilité génétique au cancer du sein dans un contexte de recherche clinique intégrée. In: Hervé C, Knoppers BM, Molinari PA, eds. Les pratiques de recherche biomédicale visitées par la bioéthique. Paris: Dalloz, 2003.
    • (2003) Les pratiques de recherche biomédicale visitées par la bioéthique
    • Godard, B.1    Simard, J.2    INHERIT, B.R.C.A.3
  • 42
    • 33847303434 scopus 로고    scopus 로고
    • Bouchard G. Projet BALSAC-Rapport annuel 2004-2005. Projet BALSAC, Université du Québec à Chicoutimi, 2005. www.uqac.ca/balsac (accessed 25 Nov 2006).
    • Bouchard G. Projet BALSAC-Rapport annuel 2004-2005. Projet BALSAC, Université du Québec à Chicoutimi, 2005. www.uqac.ca/balsac (accessed 25 Nov 2006).
  • 44
    • 0003010182 scopus 로고
    • Verification of forecasts expressed in terms of probability
    • Brier GW. Verification of forecasts expressed in terms of probability. Mon Weather Rev 1950;78:1-3.
    • (1950) Mon Weather Rev , vol.78 , pp. 1-3
    • Brier, G.W.1
  • 45
    • 0033910668 scopus 로고    scopus 로고
    • New estimates of intergenerational time intervals for the calculation of age and origins of mutations
    • Tremblay M, Vezina H. New estimates of intergenerational time intervals for the calculation of age and origins of mutations. Am J Hum Genet 2000;66:651-8.
    • (2000) Am J Hum Genet , vol.66 , pp. 651-658
    • Tremblay, M.1    Vezina, H.2
  • 51
    • 27544483543 scopus 로고    scopus 로고
    • Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations
    • Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T. Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. Cancer Res 2005;65:10096-103.
    • (2005) Cancer Res , vol.65 , pp. 10096-10103
    • Judkins, T.1    Hendrickson, B.C.2    Deffenbaugh, A.M.3    Eliason, K.4    Leclair, B.5    Norton, M.J.6    Ward, B.E.7    Pruss, D.8    Scholl, T.9
  • 54
    • 33748429657 scopus 로고    scopus 로고
    • Parkin DM, Wjelan SL, Ferlay J, Teppo L, Thomas DB, eds, Lyon, France: International Agency for Research on Cancer, WHO Press
    • Parkin DM, Wjelan SL, Ferlay J, Teppo L, Thomas DB, eds. Cancer incidence in five continents, Vol VIII. Lyon, France: International Agency for Research on Cancer, WHO Press, 2002.
    • (2002) Cancer incidence in five continents , vol.8
  • 57
    • 2942572799 scopus 로고    scopus 로고
    • Gorski B, Jakubowska A, Huzarski T, Byrski T, Gronwald J, Grzybowska E, Mackiewicz A, Stawicka M, Bebenek M, Sorokin D, Fiszer-Maliszewska L, Haus O, Janiszewska H, Niepsuj S, Gozdz S, Zaremba L, Posmyk M, Pluzanska M, Kilar E, Czudowska D, Wasko B, Miturski R, Kowalczyk JR, Urbanski K, Szwiec M, Koc J, Debniak B, Rozmiarek A, Debniak T, Cybulski C, Kowalska E, Toloczko-Grabarek A, Zajaczek S, Menkiszak J, Medrek K, Masojc B, Mierzejewski M, Narod SA, Lubinski J. A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer 2004;110:683-6
    • Gorski B, Jakubowska A, Huzarski T, Byrski T, Gronwald J, Grzybowska E, Mackiewicz A, Stawicka M, Bebenek M, Sorokin D, Fiszer-Maliszewska L, Haus O, Janiszewska H, Niepsuj S, Gozdz S, Zaremba L, Posmyk M, Pluzanska M, Kilar E, Czudowska D, Wasko B, Miturski R, Kowalczyk JR, Urbanski K, Szwiec M, Koc J, Debniak B, Rozmiarek A, Debniak T, Cybulski C, Kowalska E, Toloczko-Grabarek A, Zajaczek S, Menkiszak J, Medrek K, Masojc B, Mierzejewski M, Narod SA, Lubinski J. A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer 2004;110:683-6
  • 59
    • 33847257706 scopus 로고    scopus 로고
    • Bouchard G, Charbonneau H, Desjardins B, Heyer E, Tremblay M. Mobilité géographique et stratification du pool génétique canadien-français sous le régime français. In: Landry Y, Dickinson J, Pasleau S, Desama C, eds. Les chemins de la migration en Belgique et au Québec du XVIIe au XXe siècle. Louvain-La-Neuve: Éditions Académia, 1995:51-9.
    • Bouchard G, Charbonneau H, Desjardins B, Heyer E, Tremblay M. Mobilité géographique et stratification du pool génétique canadien-français sous le régime français. In: Landry Y, Dickinson J, Pasleau S, Desama C, eds. Les chemins de la migration en Belgique et au Québec du XVIIe au XXe siècle. Louvain-La-Neuve: Éditions Académia, 1995:51-9.
  • 60
    • 0035174428 scopus 로고    scopus 로고
    • Fragmentation of the Quebec population genetic pool (Canada): Evidence from the genetic contribution of founders per region in the 17th and 18th centuries
    • Gagnon A, Heyer E. Fragmentation of the Quebec population genetic pool (Canada): evidence from the genetic contribution of founders per region in the 17th and 18th centuries. Am J Phys Anthropol 2001;114:30-41.
    • (2001) Am J Phys Anthropol , vol.114 , pp. 30-41
    • Gagnon, A.1    Heyer, E.2
  • 61
    • 33847333656 scopus 로고    scopus 로고
    • Mesures de l'apparentement biologique au Saguenay-Lac-St-Jean (Québec, Canada) à partir de reconstitutions généalogiques
    • Vézina H, Tremblay M, Houde L. Mesures de l'apparentement biologique au Saguenay-Lac-St-Jean (Québec, Canada) à partir de reconstitutions généalogiques. Ann Démogr Hist 2004;2:67-84.
    • (2004) Ann Démogr Hist , vol.2 , pp. 67-84
    • Vézina, H.1    Tremblay, M.2    Houde, L.3
  • 62
    • 33644865525 scopus 로고    scopus 로고
    • Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families
    • Gerdes AM, Cruger DG, Thomassen M, Kruse TA. Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families. Clin Genet 2006;69:171-8.
    • (2006) Clin Genet , vol.69 , pp. 171-178
    • Gerdes, A.M.1    Cruger, D.G.2    Thomassen, M.3    Kruse, T.A.4
  • 63
    • 23844555334 scopus 로고    scopus 로고
    • Indirect BRCA1/2 testing. A useful approach in hereditary breast and ovarian cancer families without a living affected relative
    • Cruger DG, Kruse TA, Gerdes AM. Indirect BRCA1/2 testing. A useful approach in hereditary breast and ovarian cancer families without a living affected relative. Clin Genet 2005;68:228-33.
    • (2005) Clin Genet , vol.68 , pp. 228-233
    • Cruger, D.G.1    Kruse, T.A.2    Gerdes, A.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.