Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Autor: Luigi Mori, Maria Christina Sini, Michela Biancolella, Florentia Fostira, Andreas Hadjisavvas, Susan M. Domchek, Conxi Lázaro, Gabriele Lorenzo Capone, T. L. Chris Chan, Jeffrey N. Weitzel, Mark E. Robson, Diana Eccles, Inge Søkilde Pedersen, Gianluca Tedaldi, Sarah M. Nielsen, Iris L. Romero, Arcangela De Nicolo, Orland Diez, Arjen R. Mensenkamp, Jana Soukupova, Pietro Cavalli, Ros Eeles, Ana Vega, Kathleen Claes, Maria A. Loizidou, David E. Goldgar, Olufunmilayo I. Olopade, Amanda E. Toland, Yvonne Wallis, Mads Thomassen, Setareh Moghadasi, Fergus J. Couch, Mariarosaria Calvello, Judith Balmaña, Encarna B. Gomez-Garcia, Maria Rossing, Claude Houdayer, Erica Vaccari, April Morrow, Thomas Hansen, Maria Grazia Tibiletti, Sophie Krieger, Liliana Varesco, Nadia Naldi, Therese Törngren, Rien Blok, Fahd Al-Mulla, Henriette Roed Nielsen, Angela R. Solano, Amanda B. Spurdle, Akira Hirasawa, Laura Cortesi, Siranoush Manoukian, Maria A. Caligo, Barbara Wappenschmidt, Manuel R. Teixeira, Marianna Puzzo, Miguel de la Hoya, Alvaro N.A. Monteiro, Petra Kleiblova, Anna Efremidis, Edenir Inêz Palmero, Simona De Toffol, Nicholas Pachter, Maria Piane

Publikováno v: Nielsen, S M, Eccles, D M, Romero, I L, Al-Mulla, F, Balmaña, J, Biancolella, M, Blok, R, Caligo, M A, Calvello, M, Capone, G L, Cavalli, P, Chan, T L C, Claes, K B M, Cortesi, L, Couch, F J, de la Hoya, M, De Toffol, S, Diez, O, Domchek, S M, Eeles, R, Efremidis, A, Fostira, F, Goldgar, D, Hadjisavvas, A, Hansen, T V O, Hirasawa, A, Houdayer, C, Kleiblova, P, Krieger, S, Lázaro, C, Loizidou, M, Manoukian, S, Mensenkamp, A R, Moghadasi, S, Monteiro, A N, Mori, L, Morrow, A, Naldi, N, Nielsen, H R, Olopade, O I, Pachter, N S, Palmero, E I, Pedersen, I S, Piane, M, Puzzo, M, Robson, M, Rossing, M, Sini, M C, Solano, A & Thomassen, M 2018, ' Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes : An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group ', JCO Precision Oncology, vol. 2 . https://doi.org/10.1200/PO.18.00091
Nielsen, S M, Eccles, D M, Romero, I L, Al-Mulla, F, Balmaña, J, Biancolella, M, Blok, R, Caligo, M A, Calvello, M, Capone, G L, Cavalli, P, Chan, T L C, Claes, K B M, Cortesi, L, Couch, F J, de la Hoya, M, De Toffol, S, Diez, O, Domchek, S M, Eeles, R, Efremidis, A, Fostira, F, Goldgar, D, Hadjisavvas, A, Hansen, T V O, Hirasawa, A, Houdayer, C, Kleiblova, P, Krieger, S, Lázaro, C, Loizidou, M, Manoukian, S, Mensenkamp, A R, Moghadasi, S, Monteiro, A N, Mori, L, Morrow, A, Naldi, N, Nielsen, H R, Olopade, O I, Pachter, N S, Palmero, E I, Pedersen, I S, Piane, M, Puzzo, M, Robson, M, Rossing, M, Sini, M C, Solano, A, Soukupova, J, Tedaldi, G, Teixeira, M, Thomassen, M, Tibiletti, M G, Toland, A, Törngren, T, Vaccari, E, Varesco, L, Vega, A, Wallis, Y, Wappenschmidt, B, Weitzel, J, Spurdle, A B, De Nicolo, A & Gómez-García, E B 2018, ' Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes : An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group ', JCO Precision Oncology, vol. 2 . https://doi.org/10.1200/PO.18.00091
JCO Precision Oncology, 2, 1-43. American Society of Clinical Oncology
Journal of clinical oncology 2 (2018). doi:10.1200/PO.18.00091
info:cnr-pdr/source/autori:Nielsen, Sarah M.; Eccles, Diana M.; Romero, Iris L.; Al-Mulla, Fand; Balmana, Judith; Biancolella, Michela; Blok, Rien; Caligo, Maria Adelaide; Calvello, Mariarosaria; Capone, Gabriele Lorenzo; Cavalli, Pietro; Chan, T. L. Chris; Claes, Kathleen B. M.; Cortesi, Laura; Couch, Fergus J.; de la Hoya, Miguel; de Toffol, Simona; Diez, Orland; Domchek, Susan M.; Eeles, Ros; Efremidis, Anna; Fostira, Florentia; Goldgar, David; Hadjisavvas, Andreas; Hansen, Thomas v O.; Hirasawa, Akira; Houdayer, Claude; Kleiblova, Petra; Krieger, Sophie; Lazaro, Conxi; Loizidou, Maria; Manoukian, Siranoush; Mensenkamp, Arjen R.; Moghadasi, Setareh; Monteiro, Alvaro N.; Mori, Luigi; Morrow, April; Naldi, Nadia; Nielsen, Henriette R.; Olopade, Olufunmilayo, I; Pachter, Nicholas S.; Palrnero, Edenir, I; Pedersen, Inge S.; Piane, Maria; Puzzo, Marianna; Robson, Mark; Rossing, Maria; Sini, Maria Christina; Solano, Angela; Soukupova, Jana; Tedaldi, Gianluca; Teixeira, Manuel; Thomassen, Mads; Tibiletti, Maria Grazia; Toland, Amanda; Torngren, Therese; Vaccari, Erica; Varesco, Liliana; Vega, Ana; Wallis, Yvonne; Wappenschmidt, Barbara; Weitzel, Jeffrey; Spurdle, Amanda B.; De Nicolo, Arcangela; Gomez-Garcia, Encarna B./titolo:Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1%2F2 Breast (and Breast%2FOvarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group/doi:10.1200%2FPO.18.00091/rivista:Journal of clinical oncology/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume:2
JCO Precision Oncology

Purpose To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network for the Interpretation of G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e18cc8c44cbb31dff032d04c5f92d254
https://pubmed.ncbi.nlm.nih.gov/31517176

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.

Autor: Espinel, Whitney¹ (AUTHOR) whitney.espinel@hci.utah.edu, Champine, Marjan¹ (AUTHOR) mjchampine@gmail.com, Hampel, Heather² (AUTHOR) hhampel@coh.org, Jeter, Joanne² (AUTHOR) joanne.jeter@hci.utah.edu, Sweet, Kevin² (AUTHOR) kevin.sweet@osumc.edu, Pilarski, Robert² (AUTHOR) rpilarski@ambrygen.com, Pearlman, Rachel² (AUTHOR) rachel.pearlman@osumc.edu, Shane, Kate² (AUTHOR) kate.shane@osumc.edu, Brock, Pamela² (AUTHOR) pamela.brock@osumc.edu, Westman, Judith A.² (AUTHOR) judith.westman@osumc.edu, Kipnis, Lindsay³ (AUTHOR) lindsay_kipnis@dfci.harvard.edu, Sotelo, Jilliane³ (AUTHOR) jilliane.sotelo@thermofisher.com, Chittenden, Anu³ (AUTHOR) anu_chittenden@dfci.harvard.edu, Culver, Samantha³ (AUTHOR) samantha.culver@invitae.com, Stopfer, Jill E.³ (AUTHOR) jille_stopfer@dfci.harvard.edu, Schneider, Katherine A.³ (AUTHOR) katherine_schneider@dfci.harvard.edu, Sacca, Rosalba³ (AUTHOR) saccar@mskcc.org, Koeller, Diane R.³ (AUTHOR) dianer_koeller@dfci.harvard.edu, Gaonkar, Shraddha³ (AUTHOR) shraddha.gaonkar@invitae.com, Vaccari, Erica³ (AUTHOR) erica.m.vaccari@gmail.com

Publikováno v: Cancers. May2022, Vol. 14 Issue 10, p2426-N.PAG. 13p.

Abstract P4-12-01: Characterizing the clinical presentation of individuals with pathogenic variants in a breast/ovarian cancer gene panel

Autor: Jessica K. Booker, Lauren Yackowski, Erica M. Vaccari, Maria L Cremona, Melanie Hussong, Kathleen S. Hruska, Patricia D. Murphy

Publikováno v: Cancer Research. 75:P4-12

Background: Hereditary breast and ovarian cancer (HBOC) is a common indication for referral to cancer genetic counselors. Next generation sequencing panels allow for the efficient evaluation of many genes associated with increased risk of these cance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0ff5258947d57d07304cbf43058620ab
https://doi.org/10.1158/1538-7445.sabcs14-p4-12-01