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Material Type: Artigo
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From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionalsAugusto, Bianca M. ; Lake, Paige ; Scherr, Courtney L. ; Couch, Fergus J. ; Lindor, Noralane M. ; Vadaparampil, Susan T.Journal of community genetics, 2018-07, Vol.9 (3), p.209-215 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancerGunawardena, Kawmadi ; Sirisena, Nirmala D ; Anandagoda, Gayani ; Neththikumara, Nilaksha ; Dissanayake, Vajira H WBMC research notes, 2023-06, Vol.16 (1), p.95-95, Article 95 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigationVidal, Amanda Ferreira ; Ferraz, Rafaella Sousa ; El-Husny, Antonette ; Silva, Caio Santos ; Vinasco-Sandoval, Tatiana ; Magalhães, Leandro ; Raiol-Moraes, Milene ; Barra, Williams Fernandes ; Pereira, Cynthia Lara Brito Lins ; de Assumpção, Paulo Pimentel ; de Brito, Leonardo Miranda ; Vialle, Ricardo Assunção ; Santos, Sidney ; Ribeiro-Dos-Santos, Ândrea ; Ribeiro-Dos-Santos, André MBMC cancer, 2021-04, Vol.21 (1), p.363-363, Article 363 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin AmericaManotas, María Carolina ; Rivera, Ana Lucia ; Sanabria‐Salas, María CarolinaMolecular genetics & genomic medicine, 2023-05, Vol.11 (5), p.e2141-n/a [Periódico revisado por pares]United States: John Wiley and Sons IncTexto completo disponível |
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5 |
Material Type: Artigo
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Genetic Characterization in High-Risk Individuals from a Low-Resource City of PeruZavaleta, Elizabeth ; Solis, Nelly ; Palacios, Maria Isabel ; Zevallos-Escobar, Liz Elva ; Corales, Edison Vasquez ; Bazo-Alvarez, Juan Carlos ; Dominguez-Barrera, Constantino ; Campos, Anthony ; Wernhoff, Patrik ; Ekstrøm, Per Olaf ; Møller, Pål ; Visnovska, Tina ; Hovig, Eivind ; Balazar-Palacios, Janina ; Alvarez-Valenzuela, Karin ; Nakken, Sigve ; Dominguez-Valentin, MevCancers, 2022-11, Vol.14 (22), p.5603 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutationsTsaousis, Georgios N ; Papadopoulou, Eirini ; Apessos, Angela ; Agiannitopoulos, Konstantinos ; Pepe, Georgia ; Kampouri, Stavroula ; Diamantopoulos, Nikolaos ; Floros, Theofanis ; Iosifidou, Rodoniki ; Katopodi, Ourania ; Koumarianou, Anna ; Markopoulos, Christos ; Papazisis, Konstantinos ; Venizelos, Vasileios ; Xanthakis, Ioannis ; Xepapadakis, Grigorios ; Banu, Eugeniu ; Eniu, Dan Tudor ; Negru, Serban ; Stanculeanu, Dana Lucia ; Ungureanu, Andrei ; Ozmen, Vahit ; Tansan, Sualp ; Tekinel, Mehmet ; Yalcin, Suayib ; Nasioulas, GeorgeBMC cancer, 2019-06, Vol.19 (1), p.535-535, Article 535 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patientsPaixão, Daniele ; Torrezan, Giovana Tardin ; Santiago, Karina Miranda ; Formiga, Maria Nirvana ; Ahuno, Samuel Terkper ; Dias-Neto, Emmanuel ; Tojal da Silva, Israel ; Foulkes, William D. ; Polak, Paz ; Carraro, Dirce MariaFrontiers in oncology, 2022-08, Vol.12, p.976959-976959 [Periódico revisado por pares]Frontiers Media S.ATexto completo disponível |
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8 |
Material Type: Artigo
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BRCA2 BRC missense variants disrupt RAD51-dependent DNA repairJimenez-Sainz, Judit ; Mathew, Joshua ; Moore, Gemma ; Lahiri, Sudipta ; Garbarino, Jennifer ; Eder, Joseph P ; Rothenberg, Eli ; Jensen, Ryan BeLife, 2022-09, Vol.11 [Periódico revisado por pares]England: eLife Science Publications, LtdTexto completo disponível |
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Material Type: Artigo
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Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in AustraliaHallenstein, Lucie G ; Sorensen, Carol ; Hodgson, Lorraine ; Wen, Shelly ; Westhuyzen, Justin ; Hansen, Carmen ; Last, Andrew T J ; Amalaseelan, Julan V ; Salindera, Shehnarz ; Ross, William ; Spigelman, Allan D ; Shakespeare, Thomas P ; Aherne, Noel JHereditary cancer in clinical practice, 2021-02, Vol.19 (1), p.19-8, Article 19 [Periódico revisado por pares]Poland: BioMed Central LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort studyGuo, Boya ; Knerr, Sarah ; Kauffman, Tia L. ; Mittendorf, Kathleen F. ; Keast, Erin ; Gilmore, Marian J. ; Feigelson, Heather Spencer ; Lynch, Frances L. ; Muessig, Kristin R. ; Okuyama, Sonia ; Zepp, Jamilyn M. ; Veenstra, David L. ; Hsu, Li ; Phipps, Amanda I. ; Lindström, Sara ; Leo, Michael C. ; Goddard, Katrina A. B. ; Wilfond, Benjamin S. ; Devine, Beth ; Allen, Jake ; Amendola, Laura M. ; Anderson, Katherine P. ; Angelo, Frank ; Arnold, Briana L. ; Bellcross, Cecelia ; Bendelow, Tiffany ; Biesecker, Barbara B. ; Breslin, Kristin D. ; Bulkley, Joanna E. ; Booker, Kristina F. ; Caruncho, Mikaella ; Davis, James V. ; Deutsch, Sonia ; Dorschner, Michael O. ; Duenas, Devan M. ; Eubanks, Donna J. ; Freed, Amanda S. ; Gilmore, Marian J. ; Greaney, Clay ; Gruß, Inga ; Guerra, Claudia ; Holup, Joan ; Hunter, Jessica Ezzell ; Ingphakorn, Chalinya L. ; Jackson, Paige ; Jarvik, Gail P. ; Jenkins, Charisma L. ; Joseph, Galen ; Karliner, Leah S. ; Koomas, Alyssa H. ; Kraft, Stephanie A. ; Lee, Mi H. ; Lee, Robin ; Lee, Sandra Soo‐Jin ; Lewis, Hannah S. ; Liles, Elizabeth G. ; Lindberg, Nangel M. ; McMullen, Carmit K. ; Medina, Elizabeth ; Muessig, Kristin R. ; Okuyama, Sonia ; Peterson, C. Samuel ; Paolucci, Angela R. ; Perez, Rosse Rodriguez ; Porter, Kathryn M. ; Ransom, Chelese L. ; Reyes, Ana ; Riddle, Leslie S. ; Robinson, Sperry ; Rolf, Bradley A. ; Rope, Alan F. ; Schield, Emily ; Schneider, Jennifer L. ; Shipman, Kelly J. ; Shirts, Brian H ; Shuster, Elizabeth ; Syngal, Sapna ; Torgrimson‐Ojerio, Britta N. ; Ukaegbu, Chinedu ; Vandermeer, Meredith L. ; Varga, Alexandra M. ; Veenstra, David L. ; Whitebirch, W. Chris ; White, Larissa LeeCancer medicine (Malden, MA), 2023-09, Vol.12 (18), p.19112-19125 [Periódico revisado por pares]United States: John Wiley and Sons IncTexto completo disponível |