@article{
 title = {Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multi step testing approach in French-Canadian families with high risk of breast and ovarian cancer},
 type = {article},
 year = {2007},
 identifiers = {[object Object]},
 keywords = {Breast cancer,Canadien français,Canadiense francés,Cancer du sein,Cáncer de pecho,Descubrimiento,Dépistage,Enfermedad hereditaria,Estudio familiar,Etude familiale,Evaluación,Evaluation,Facteur risque,Factor riesgo,Family environment,Family study,French canadian,Gen supresor tumor,Genetic disease,Genetics,Genética,Glande mammaire pathologie,Glándula mamaria patología,Gène suppresseur tumeur,Génétique,High risk,Hombre,Homme,Human,Maladie héréditaire,Malignant tumor,Mammary gland diseases,Medical screening,Medio familiar,Milieu familial,Modelo,Models,Modèle,Mutación,Mutation,Predicción,Prevalencia,Prédiction,Prévalence,Public health,Riesgo alto,Risk factor,Risque élevé,Salud pública,Santé publique,Tumeur maligne,Tumor maligno,Tumor suppressor gene},
 pages = {107-121},
 volume = {44},
 websites = {http://cat.inist.fr/?aModele=afficheN&cpsidt=18497376},
 publisher = {BMJ Publishing Group},
 id = {0bdc47f4-196c-31d8-b57d-21a97244d05b},
 created = {2017-06-19T13:46:38.191Z},
 accessed = {2011-06-02},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:46:38.337Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 language = {eng},
 abstract = {Background and objective: In clinical settings with fixed resources allocated to predictive genetic testing for High-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the frequency of mutations detected as a function of the personal and family history of cancer, which are both affected by the presence of founder mutations and demographic characteristics of the underlying population. The results of multistep genetic testing for mutations in BRCA1 or BRCA2 in a large series of families with breast cancer in the French-Canadian population of Quebec, Canada are reported. Methods: A total of 256 high-risk families were ascertained from regional familial cancer clinics throughout the province of Quebec. Initially, families were tested for a panel of specific mutations known to occur in this population. Families in which no mutation was identified were then comprehensively tested. Three algorithms to predict the presence of mutations were evaluated, including the prevalence tables provided by Myriad Genetics Laboratories, the Manchester Scoring System and a logistic regression approach based on the data from this study. Results: 8 of the 15 distinct mutations found in 62 BRCA f/BRCA2-positive families had never been previously reported in this population, whereas 82% carried 1 of the 4 mutations currently observed in 3≥2 families. In the subset of 191 families in which at least 1 affected individual was tested, 29% carried a mutation. Of these 27 BRCA 1-positive and 29 BRCA2-positive families, 48 (86%) were found to harbour a mutation detected by the initial test. Among the remaining 143 inconclusive families, all 8 families found to have a mutation after complete sequencing had Manchester Scores ≥18. The logistic regression and Manchester Scores provided equal predictive power, and both were significantly better than the Myriad Genetics Laboratories prevalence tables (p<0.001). A threshold of Manchester Score 3≥18 provided an overall sensitivity of 86% and a specificity of 82%, with a positive predictive value of 66% in this population. Conclusion: In this population, a testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing in families with Manchester Scores ≥ 1 8, represents an efficient test in terms of overall cost and sensitivity.},
 bibtype = {article},
 author = {Simard, Jacques and Dumont, Martine and Moisan, Anne-Marie and Baorieu, Valérie and Vézina, Hélène and Durocher, Francine and Chiquette, Jocelyne and Plante, Marie and Avard, Denise and Bessette, Paul and Brousseau, Claire and Dorval, Michel and Godard, Béatrice and Houde, Louis and Joly, Yann and Lajoie, Marie-Andree and Leblanc, Gilles and Lépine, Jean and Lespérance, Bernard and Malouin, Hélène and Parboosingh, Jillian and Pichette, Roxane and Provencher, Louise and Rhéaume, Josée and Sinnett, Daniel and Samson, Carolle and Simard, Jean-Claude and Tranchant, Martine and Voyer, Patricia and Esaton, Douglas and Tavtignian, Sean V. and Knoppers, Bartha-Maria and Laframboise, Rachel and Bridge, Peter and Goldgar, David},
 journal = {Journal of medical genetics},
 number = {2}
}

{"_id":"Cu7h7xs6azTDCa9W4","bibbaseid":"simard-dumont-moisan-baorieu-vzina-durocher-chiquette-plante-etal-evaluationofbrca1andbrca2mutationprevalenceriskpredictionmodelsandamultisteptestingapproachinfrenchcanadianfamilieswithhighriskofbreastandovariancancer-2007","downloads":0,"creationDate":"2017-06-19T14:46:35.245Z","title":"Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multi step testing approach in French-Canadian families with high risk of breast and ovarian cancer","author_short":["Simard, J.","Dumont, M.","Moisan, A.","Baorieu, V.","Vézina, H.","Durocher, F.","Chiquette, J.","Plante, M.","Avard, D.","Bessette, P.","Brousseau, C.","Dorval, M.","Godard, B.","Houde, L.","Joly, Y.","Lajoie, M.","Leblanc, G.","Lépine, J.","Lespérance, B.","Malouin, H.","Parboosingh, J.","Pichette, R.","Provencher, L.","Rhéaume, J.","Sinnett, D.","Samson, C.","Simard, J.","Tranchant, M.","Voyer, P.","Esaton, D.","Tavtignian, S., V.","Knoppers, B.","Laframboise, R.","Bridge, P.","Goldgar, D."],"year":2007,"bibtype":"article","biburl":null,"bibdata":{"title":"Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multi step testing approach in French-Canadian families with high risk of breast and ovarian cancer","type":"article","year":"2007","identifiers":"[object Object]","keywords":"Breast cancer,Canadien français,Canadiense francés,Cancer du sein,Cáncer de pecho,Descubrimiento,Dépistage,Enfermedad hereditaria,Estudio familiar,Etude familiale,Evaluación,Evaluation,Facteur risque,Factor riesgo,Family environment,Family study,French canadian,Gen supresor tumor,Genetic disease,Genetics,Genética,Glande mammaire pathologie,Glándula mamaria patología,Gène suppresseur tumeur,Génétique,High risk,Hombre,Homme,Human,Maladie héréditaire,Malignant tumor,Mammary gland diseases,Medical screening,Medio familiar,Milieu familial,Modelo,Models,Modèle,Mutación,Mutation,Predicción,Prevalencia,Prédiction,Prévalence,Public health,Riesgo alto,Risk factor,Risque élevé,Salud pública,Santé publique,Tumeur maligne,Tumor maligno,Tumor suppressor gene","pages":"107-121","volume":"44","websites":"http://cat.inist.fr/?aModele=afficheN&cpsidt=18497376","publisher":"BMJ Publishing Group","id":"0bdc47f4-196c-31d8-b57d-21a97244d05b","created":"2017-06-19T13:46:38.191Z","accessed":"2011-06-02","file_attached":false,"profile_id":"de68dde1-2ff3-3a4e-a214-ef424d0c7646","group_id":"b2078731-0913-33b9-8902-a53629a24e83","last_modified":"2017-06-19T13:46:38.337Z","read":false,"starred":false,"authored":false,"confirmed":"true","hidden":false,"language":"eng","abstract":"Background and objective: In clinical settings with fixed resources allocated to predictive genetic testing for High-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the frequency of mutations detected as a function of the personal and family history of cancer, which are both affected by the presence of founder mutations and demographic characteristics of the underlying population. The results of multistep genetic testing for mutations in BRCA1 or BRCA2 in a large series of families with breast cancer in the French-Canadian population of Quebec, Canada are reported. Methods: A total of 256 high-risk families were ascertained from regional familial cancer clinics throughout the province of Quebec. Initially, families were tested for a panel of specific mutations known to occur in this population. Families in which no mutation was identified were then comprehensively tested. Three algorithms to predict the presence of mutations were evaluated, including the prevalence tables provided by Myriad Genetics Laboratories, the Manchester Scoring System and a logistic regression approach based on the data from this study. Results: 8 of the 15 distinct mutations found in 62 BRCA f/BRCA2-positive families had never been previously reported in this population, whereas 82% carried 1 of the 4 mutations currently observed in 3≥2 families. In the subset of 191 families in which at least 1 affected individual was tested, 29% carried a mutation. Of these 27 BRCA 1-positive and 29 BRCA2-positive families, 48 (86%) were found to harbour a mutation detected by the initial test. Among the remaining 143 inconclusive families, all 8 families found to have a mutation after complete sequencing had Manchester Scores ≥18. The logistic regression and Manchester Scores provided equal predictive power, and both were significantly better than the Myriad Genetics Laboratories prevalence tables (p<0.001). A threshold of Manchester Score 3≥18 provided an overall sensitivity of 86% and a specificity of 82%, with a positive predictive value of 66% in this population. Conclusion: In this population, a testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing in families with Manchester Scores ≥ 1 8, represents an efficient test in terms of overall cost and sensitivity.","bibtype":"article","author":"Simard, Jacques and Dumont, Martine and Moisan, Anne-Marie and Baorieu, Valérie and Vézina, Hélène and Durocher, Francine and Chiquette, Jocelyne and Plante, Marie and Avard, Denise and Bessette, Paul and Brousseau, Claire and Dorval, Michel and Godard, Béatrice and Houde, Louis and Joly, Yann and Lajoie, Marie-Andree and Leblanc, Gilles and Lépine, Jean and Lespérance, Bernard and Malouin, Hélène and Parboosingh, Jillian and Pichette, Roxane and Provencher, Louise and Rhéaume, Josée and Sinnett, Daniel and Samson, Carolle and Simard, Jean-Claude and Tranchant, Martine and Voyer, Patricia and Esaton, Douglas and Tavtignian, Sean V. and Knoppers, Bartha-Maria and Laframboise, Rachel and Bridge, Peter and Goldgar, David","journal":"Journal of medical genetics","number":"2","bibtex":"@article{\n title = {Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multi step testing approach in French-Canadian families with high risk of breast and ovarian cancer},\n type = {article},\n year = {2007},\n identifiers = {[object Object]},\n keywords = {Breast cancer,Canadien français,Canadiense francés,Cancer du sein,Cáncer de pecho,Descubrimiento,Dépistage,Enfermedad hereditaria,Estudio familiar,Etude familiale,Evaluación,Evaluation,Facteur risque,Factor riesgo,Family environment,Family study,French canadian,Gen supresor tumor,Genetic disease,Genetics,Genética,Glande mammaire pathologie,Glándula mamaria patología,Gène suppresseur tumeur,Génétique,High risk,Hombre,Homme,Human,Maladie héréditaire,Malignant tumor,Mammary gland diseases,Medical screening,Medio familiar,Milieu familial,Modelo,Models,Modèle,Mutación,Mutation,Predicción,Prevalencia,Prédiction,Prévalence,Public health,Riesgo alto,Risk factor,Risque élevé,Salud pública,Santé publique,Tumeur maligne,Tumor maligno,Tumor suppressor gene},\n pages = {107-121},\n volume = {44},\n websites = {http://cat.inist.fr/?aModele=afficheN&cpsidt=18497376},\n publisher = {BMJ Publishing Group},\n id = {0bdc47f4-196c-31d8-b57d-21a97244d05b},\n created = {2017-06-19T13:46:38.191Z},\n accessed = {2011-06-02},\n file_attached = {false},\n profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},\n group_id = {b2078731-0913-33b9-8902-a53629a24e83},\n last_modified = {2017-06-19T13:46:38.337Z},\n read = {false},\n starred = {false},\n authored = {false},\n confirmed = {true},\n hidden = {false},\n language = {eng},\n abstract = {Background and objective: In clinical settings with fixed resources allocated to predictive genetic testing for High-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the frequency of mutations detected as a function of the personal and family history of cancer, which are both affected by the presence of founder mutations and demographic characteristics of the underlying population. The results of multistep genetic testing for mutations in BRCA1 or BRCA2 in a large series of families with breast cancer in the French-Canadian population of Quebec, Canada are reported. Methods: A total of 256 high-risk families were ascertained from regional familial cancer clinics throughout the province of Quebec. Initially, families were tested for a panel of specific mutations known to occur in this population. Families in which no mutation was identified were then comprehensively tested. Three algorithms to predict the presence of mutations were evaluated, including the prevalence tables provided by Myriad Genetics Laboratories, the Manchester Scoring System and a logistic regression approach based on the data from this study. Results: 8 of the 15 distinct mutations found in 62 BRCA f/BRCA2-positive families had never been previously reported in this population, whereas 82% carried 1 of the 4 mutations currently observed in 3≥2 families. In the subset of 191 families in which at least 1 affected individual was tested, 29% carried a mutation. Of these 27 BRCA 1-positive and 29 BRCA2-positive families, 48 (86%) were found to harbour a mutation detected by the initial test. Among the remaining 143 inconclusive families, all 8 families found to have a mutation after complete sequencing had Manchester Scores ≥18. The logistic regression and Manchester Scores provided equal predictive power, and both were significantly better than the Myriad Genetics Laboratories prevalence tables (p<0.001). A threshold of Manchester Score 3≥18 provided an overall sensitivity of 86% and a specificity of 82%, with a positive predictive value of 66% in this population. Conclusion: In this population, a testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing in families with Manchester Scores ≥ 1 8, represents an efficient test in terms of overall cost and sensitivity.},\n bibtype = {article},\n author = {Simard, Jacques and Dumont, Martine and Moisan, Anne-Marie and Baorieu, Valérie and Vézina, Hélène and Durocher, Francine and Chiquette, Jocelyne and Plante, Marie and Avard, Denise and Bessette, Paul and Brousseau, Claire and Dorval, Michel and Godard, Béatrice and Houde, Louis and Joly, Yann and Lajoie, Marie-Andree and Leblanc, Gilles and Lépine, Jean and Lespérance, Bernard and Malouin, Hélène and Parboosingh, Jillian and Pichette, Roxane and Provencher, Louise and Rhéaume, Josée and Sinnett, Daniel and Samson, Carolle and Simard, Jean-Claude and Tranchant, Martine and Voyer, Patricia and Esaton, Douglas and Tavtignian, Sean V. and Knoppers, Bartha-Maria and Laframboise, Rachel and Bridge, Peter and Goldgar, David},\n journal = {Journal of medical genetics},\n number = {2}\n}","author_short":["Simard, J.","Dumont, M.","Moisan, A.","Baorieu, V.","Vézina, H.","Durocher, F.","Chiquette, J.","Plante, M.","Avard, D.","Bessette, P.","Brousseau, C.","Dorval, M.","Godard, B.","Houde, L.","Joly, Y.","Lajoie, M.","Leblanc, G.","Lépine, J.","Lespérance, B.","Malouin, H.","Parboosingh, J.","Pichette, R.","Provencher, L.","Rhéaume, J.","Sinnett, D.","Samson, C.","Simard, J.","Tranchant, M.","Voyer, P.","Esaton, D.","Tavtignian, S., V.","Knoppers, B.","Laframboise, R.","Bridge, P.","Goldgar, D."],"urls":{"Website":"http://cat.inist.fr/?aModele=afficheN&cpsidt=18497376"},"bibbaseid":"simard-dumont-moisan-baorieu-vzina-durocher-chiquette-plante-etal-evaluationofbrca1andbrca2mutationprevalenceriskpredictionmodelsandamultisteptestingapproachinfrenchcanadianfamilieswithhighriskofbreastandovariancancer-2007","role":"author","keyword":["Breast cancer","Canadien français","Canadiense francés","Cancer du sein","Cáncer de pecho","Descubrimiento","Dépistage","Enfermedad hereditaria","Estudio familiar","Etude familiale","Evaluación","Evaluation","Facteur risque","Factor riesgo","Family environment","Family study","French canadian","Gen supresor tumor","Genetic disease","Genetics","Genética","Glande mammaire pathologie","Glándula mamaria patología","Gène suppresseur tumeur","Génétique","High risk","Hombre","Homme","Human","Maladie héréditaire","Malignant tumor","Mammary gland diseases","Medical screening","Medio familiar","Milieu familial","Modelo","Models","Modèle","Mutación","Mutation","Predicción","Prevalencia","Prédiction","Prévalence","Public health","Riesgo alto","Risk factor","Risque élevé","Salud pública","Santé publique","Tumeur maligne","Tumor maligno","Tumor suppressor gene"],"downloads":0},"search_terms":["evaluation","brca1","brca2","mutation","prevalence","risk","prediction","models","multi","step","testing","approach","french","canadian","families","high","risk","breast","ovarian","cancer","simard","dumont","moisan","baorieu","vézina","durocher","chiquette","plante","avard","bessette","brousseau","dorval","godard","houde","joly","lajoie","leblanc","lépine","lespérance","malouin","parboosingh","pichette","provencher","rhéaume","sinnett","samson","simard","tranchant","voyer","esaton","tavtignian","knoppers","laframboise","bridge","goldgar"],"keywords":["breast cancer","canadien français","canadiense francés","cancer du sein","cáncer de pecho","descubrimiento","dépistage","enfermedad hereditaria","estudio familiar","etude familiale","evaluación","evaluation","facteur risque","factor riesgo","family environment","family study","french canadian","gen supresor tumor","genetic disease","genetics","genética","glande mammaire pathologie","glándula mamaria patología","gène suppresseur tumeur","génétique","high risk","hombre","homme","human","maladie héréditaire","malignant tumor","mammary gland diseases","medical screening","medio familiar","milieu familial","modelo","models","modèle","mutación","mutation","predicción","prevalencia","prédiction","prévalence","public health","riesgo alto","risk factor","risque élevé","salud pública","santé publique","tumeur maligne","tumor maligno","tumor suppressor gene"],"authorIDs":[]}