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

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https://pubmed.ncbi.nlm.nih.gov/31517176

Validation and comparison of several published prognostic systems for patients with small cell lung cancer

Autor: Jean-Paul Sculier, Marianne Paesmans, Nathalie Leclercq, Vicente Giner, O Van Cutsem, Arnaud Scherpereel, Thierry Berghmans, Jean-Sébastien Lecomte, P. Van Houtte, Anna Efremidis, Jean-Jacques Lafitte, Anne-Pascale Meert

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It is commonly considered that idiopathic pulmonary fibrosis (IPF) predisposes to the occurrence of lung cancer (LC). The frequency of IPF and LC coexistence is assessed at 4,8% to 48,2% depending on the country of origin and type of the report. Base

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f42b91a508ee6eb126c56c5a9ff156
https://doi.org/10.1183/09031936.00111110

Survival is better predicted with a new classification of stage III unresectable non-small cell lung carcinoma treated by chemotherapy and radiotherapy

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Publikováno v: Lung Cancer. 45:339-348

The 1997 International staging system (ISS) classification separated stage III non-small cell lung cancer (NSCLC) into stages IIIA and IIIB. In a previous study including unresectable NSCLC initially treated with chemotherapy, we analysed survival ac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0da83b4788193883be8dd4719656143
https://doi.org/10.1016/j.lungcan.2004.02.016

Risk factors, pathological and phenotypic features of male breast cancer in Greece

Autor: Nikolaos, Tsoukalas, Evangelia, Moirogiorgou, Maria, Tolia, Nikolaos, Pistamaltzian, Evangelos, Bournakis, Konstantinos, Papadimitriou, Stamatina, Demiri, Christos, Panopoulos, Georgios, Koumakis, Anna, Efremidis

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Breast cancer (BC) in males is a rare disease and comprises 0.5-1% of all BC cases. Due to its rarity, there are limited data regarding risk factors, biology and relevant treatment.A prospective observational study of demographic, clinical and histol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e7cb66eb2e8ce819953b4c77a101b41b
https://pubmed.ncbi.nlm.nih.gov/24596375

A phase II trial testing gemcitabine as second-line chemotherapy for non small cell lung cancer

Autor: Jacques Thiriaux, Jean-Jacques Lafitte, Paul Mommen, Jean-Paul Sculier, Anna Efremidis, J. Lecomte, Jean Klastersky, Thierry Berghmans, Marianne Paesmans, Vincent Ninane

Publikováno v: Lung Cancer. 29:67-73

The purpose of the present trial was to determine the activity of gemcitabine as a second-line chemotherapy for non small cell lung cancer (NSCLC). To be eligible, patients had to have pathologically proven NSCLC that has failed to respond to a first

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4913403c123a56219536682401ca0401
https://doi.org/10.1016/s0169-5002(00)00099-4