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• W2000329023 abstract "Clinical GeneticsVolume 82, Issue 6 p. 594-598 Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan J Ahmad, J Ahmad Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, France Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences (BUITEMS), Quetta, PakistanSearch for more papers by this authorF Le Calvez-Kelm, F Le Calvez-Kelm Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, FranceSearch for more papers by this authorS Daud, S Daud Centre for Applied Molecular Biology, University of the Punjab, Lahore, PakistanSearch for more papers by this authorC Voegele, C Voegele Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, FranceSearch for more papers by this authorM Vallée, M Vallée Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, FranceSearch for more papers by this authorA Ahmad, A Ahmad Mayo Hospital, Lahore, PakistanSearch for more papers by this authorN Kakar, N Kakar Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences (BUITEMS), Quetta, PakistanSearch for more papers by this authorJD McKay, JD McKay Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, FranceSearch for more papers by this authorV Gaborieau, V Gaborieau Genetic Epidemiology Group, International Agency for Research on Cancer, 69372 Lyon, FranceSearch for more papers by this authorM Léoné, M Léoné Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon, Centre Léon Bérard, 69373 Lyon, FranceSearch for more papers by this authorO Sinilnikova, O Sinilnikova Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon, Centre Léon Bérard, 69373 Lyon, France INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie Lyon-Est, 69373 Lyon, FranceSearch for more papers by this authorS Sangrajrang, S Sangrajrang National Cancer Institute, 10400 Bangkok, ThailandSearch for more papers by this authorSV Tavtigian, SV Tavtigian Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, University of Utah, Salt Lake City, UT 84112, USASearch for more papers by this authorF Lesueur, Corresponding Author F Lesueur Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, FranceFabienne LesueurGenetic Cancer Susceptibility groupInternational Agency for Research on CancerLyonFranceTel.: +33 4 72 73 85 57Fax: +33 4 72 73 83 88e-mail: [email protected]Search for more papers by this author J Ahmad, J Ahmad Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, France Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences (BUITEMS), Quetta, PakistanSearch for more papers by this authorF Le Calvez-Kelm, F Le Calvez-Kelm Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, FranceSearch for more papers by this authorS Daud, S Daud Centre for Applied Molecular Biology, University of the Punjab, Lahore, PakistanSearch for more papers by this authorC Voegele, C Voegele Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, FranceSearch for more papers by this authorM Vallée, M Vallée Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, FranceSearch for more papers by this authorA Ahmad, A Ahmad Mayo Hospital, Lahore, PakistanSearch for more papers by this authorN Kakar, N Kakar Department of Biotechnology and Informatics, Balochistan University of Information Technology, Engineering and Management Sciences (BUITEMS), Quetta, PakistanSearch for more papers by this authorJD McKay, JD McKay Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, FranceSearch for more papers by this authorV Gaborieau, V Gaborieau Genetic Epidemiology Group, International Agency for Research on Cancer, 69372 Lyon, FranceSearch for more papers by this authorM Léoné, M Léoné Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon, Centre Léon Bérard, 69373 Lyon, FranceSearch for more papers by this authorO Sinilnikova, O Sinilnikova Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon, Centre Léon Bérard, 69373 Lyon, France INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie Lyon-Est, 69373 Lyon, FranceSearch for more papers by this authorS Sangrajrang, S Sangrajrang National Cancer Institute, 10400 Bangkok, ThailandSearch for more papers by this authorSV Tavtigian, SV Tavtigian Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, University of Utah, Salt Lake City, UT 84112, USASearch for more papers by this authorF Lesueur, Corresponding Author F Lesueur Genetic Cancer Susceptibility Group, International Agency for Research on Cancer (IARC), 69372 Lyon, FranceFabienne LesueurGenetic Cancer Susceptibility groupInternational Agency for Research on CancerLyonFranceTel.: +33 4 72 73 85 57Fax: +33 4 72 73 83 88e-mail: [email protected]Search for more papers by this author First published: 08 April 2012 https://doi.org/10.1111/j.1399-0004.2012.01869.xCitations: 5Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Palma MD, Domchek SM, Stopfer J et al. The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res 2008: 68 (17): 7006–7014. 2 Nguyen-Dumont T, Calvez-Kelm FL, Forey N et al. Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Hum Mutat 2009: 30 (6): 884–890. 3 Farrugia DJ, Agarwal MK, Pankratz VS et al. Functional assays for classification of BRCA2 variants of uncertain significance. Cancer Res 2008: 68 (9): 3523–3531. 4 Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat 2008: 29 (11): 1342–1354. 5 Easton DF, Deffenbaugh AM, Pruss D et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 2007: 81 (5): 873–883. 6 Roth S, Kristo P, Auranen A et al. A missense mutation in the BRCA2 gene in three siblings with ovarian cancer. Br J Cancer 1998: 77 (8): 1199–1202. 7 Farooq A, Naveed AK, Azeem Z, Ahmad T. Breast and ovarian cancer risk due to prevalence of BRCA1 and BRCA2 variants in Pakistani population: a Pakistani database report. J Oncol 2011: 632870. 8 Patmasiriwat P, Bhothisuwan K, Sinilnikova OM et al. Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer. Hum Mutat 2002: 20 (3): 230. Citing Literature Volume82, Issue6December 2012Pages 594-598 ReferencesRelatedInformation" @default.
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