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A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
Guidugli L, Pankratz VS, Singh N, Thompson J, Erding CA, Engel C, Schmutzler R, Domchek S, Nathanson K, Radice P, Singer C, Tonin PN, Lindor NM, Goldgar DE, Couch FJ. Guidugli L, et al. Among authors: tonin pn. Cancer Res. 2013 Jan 1;73(1):265-75. doi: 10.1158/0008-5472.CAN-12-2081. Epub 2012 Oct 29. Cancer Res. 2013. PMID: 23108138 Free PMC article.
The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.
Cote S, Arcand SL, Royer R, Nolet S, Mes-Masson AM, Ghadirian P, Foulkes WD, Tischkowitz M, Narod SA, Provencher D, Tonin PN. Cote S, et al. Among authors: tonin pn. Breast Cancer Res Treat. 2012 Jan;131(1):333-40. doi: 10.1007/s10549-011-1796-4. Epub 2011 Sep 27. Breast Cancer Res Treat. 2012. PMID: 21947752
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
Leroy B, Ballinger ML, Baran-Marszak F, Bond GL, Braithwaite A, Concin N, Donehower LA, El-Deiry WS, Fenaux P, Gaidano G, Langerød A, Hellstrom-Lindberg E, Iggo R, Lehmann-Che J, Mai PL, Malkin D, Moll UM, Myers JN, Nichols KE, Pospisilova S, Ashton-Prolla P, Rossi D, Savage SA, Strong LC, Tonin PN, Zeillinger R, Zenz T, Fraumeni JF Jr, Taschner PE, Hainaut P, Soussi T. Leroy B, et al. Among authors: tonin pn. Cancer Res. 2017 Mar 15;77(6):1250-1260. doi: 10.1158/0008-5472.CAN-16-2179. Cancer Res. 2017. PMID: 28254861 Free PMC article. Review.
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.
Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD. Rivera B, et al. Among authors: tonin pn. Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23. Cancer Res. 2017. PMID: 28646019
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Felicio PS, Grasel RS, Campacci N, de Paula AE, Galvão HCR, Torrezan GT, Sabato CS, Fernandes GC, Souza CP, Michelli RD, Andrade CE, Barros BDF, Matsushita MM, Revil T, Ragoussis J, Couch FJ, Hart SN, Reis RM, Melendez ME, Tonin PN, Carraro DM, Palmero EI. Felicio PS, et al. Among authors: tonin pn. Hum Mutat. 2021 Mar;42(3):290-299. doi: 10.1002/humu.24158. Epub 2020 Dec 28. Hum Mutat. 2021. PMID: 33326660 Free PMC article.
130 results