Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility
Keupp, Katharina (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne)
Hampp, Stephanie (Department of Obstetrics and Gynecology. Ulm University)
Hübbel, Annette (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne)
Maringa, Monika (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne)
Kostezka, Sarah (Department of Obstetrics and Gynecology. Ulm University)
Rhiem, Kerstin (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne)
Waha, Anke (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne)
Wappenschmidt, Barbara (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne)
Pujol, Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Surralles, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Schmutzler, Rita K. (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne)
Wiesmüller, Lisa (Department of Obstetrics and Gynecology. Ulm University)
Hahnen, Eric (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne)

Date:	2019
Abstract:	Background: Biallelic BRCA1 mutations are regarded either embryonically lethal or to cause Fanconi anemia (FA), a genomic instability syndrome characterized by bone marrow failure, developmental abnormalities, and cancer predisposition. We report biallelic BRCA1 mutations c. 181T.
Grants:	Ministerio de Economía y Competitividad SAF2015-64152-R
Note:	Altres ajuts: Deutsche Krebshilfe, Grant/Award Number: 110837, 70111850 and 70112504
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Biallelic BRCA1 ; Early onset breast cancer ; Fanconi anemia ; P.arg1699gln
Published in:	Molecular genetics & genomic medicine, Vol. 7 Núm. 9 (january 2019) , p. e863, ISSN 2324-9269

DOI: 10.1002/mgg3.863
PMID: 31347298

9 p, 821.2 KB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles