Catucci, Irene, Osorio, Ana ORCID: 0000-0001-8124-3984, Arver, Brita, Neidhardt, Guido, Bogliolo, Massimo ORCID: 0000-0001-8240-7784, Zanardi, Federica, Riboni, Mirko, Minardi, Simone, Pujol, Roser, Azzollini, Jacopo ORCID: 0000-0002-9364-9778, Peissel, Bernard, Manoukian, Siranoush, De Vecchi, Giovanna, Casola, Stefano ORCID: 0000-0001-5580-0986, Hauke, Jan, Richters, Lisa, Rhiem, Kerstin, Schmutzler, Rita K., Wallander, Karin ORCID: 0000-0001-8166-9678, Torngren, Therese, Borg, Ake, Radice, Paolo ORCID: 0000-0001-6298-4111, Surralles, Jordi, Hahnen, Eric, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Kvist, Anders ORCID: 0000-0002-1358-0695, Benitez, Javier and Peterlongo, Paolo ORCID: 0000-0001-6951-6855 (2018). Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. Genet. Med., 20 (4). S. 452 - 458. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

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Abstract

Purpose: Monoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). FANCM monoallelic mutations have been reported as moderate risk factors for breast cancer, but there are no reports of any clinical phenotype observed in carriers of biallelic mutations.& para;& para;Methods: Breast cancer probands were subjected to mutation analysis by sequencing gene panels or testing DNA damage response genes.& para;& para;Results: Five cases homozygous for FANCM loss-of-function mutations were identified. They show a heterogeneous phenotype including cancer predisposition, toxicity to chemotherapy, early menopause, and possibly chromosome fragility. Phenotype severity might correlate with mutation position in the gene.& para;& para;Conclusion: Our data indicate that biallelic FANCM mutations do not cause classical FA, providing proof that FANCM is not a canonical FA gene. Moreover, our observations support previous findings suggesting that FANCM is a breast cancer-predisposing gene. Mutation testing of FANCM might be considered for individuals with the above-described clinical features.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Catucci, IreneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Osorio, AnaUNSPECIFIEDorcid.org/0000-0001-8124-3984UNSPECIFIED
Arver, BritaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neidhardt, GuidoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bogliolo, MassimoUNSPECIFIEDorcid.org/0000-0001-8240-7784UNSPECIFIED
Zanardi, FedericaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riboni, MirkoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Minardi, SimoneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pujol, RoserUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Azzollini, JacopoUNSPECIFIEDorcid.org/0000-0002-9364-9778UNSPECIFIED
Peissel, BernardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manoukian, SiranoushUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
De Vecchi, GiovannaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Casola, StefanoUNSPECIFIEDorcid.org/0000-0001-5580-0986UNSPECIFIED
Hauke, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Richters, LisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rhiem, KerstinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wallander, KarinUNSPECIFIEDorcid.org/0000-0001-8166-9678UNSPECIFIED
Torngren, ThereseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borg, AkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radice, PaoloUNSPECIFIEDorcid.org/0000-0001-6298-4111UNSPECIFIED
Surralles, JordiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahnen, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehrencrona, HansUNSPECIFIEDorcid.org/0000-0002-5589-3622UNSPECIFIED
Kvist, AndersUNSPECIFIEDorcid.org/0000-0002-1358-0695UNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peterlongo, PaoloUNSPECIFIEDorcid.org/0000-0001-6951-6855UNSPECIFIED
URN: urn:nbn:de:hbz:38-192027
DOI: 10.1038/gim.2017.123
Journal or Publication Title: Genet. Med.
Volume: 20
Number: 4
Page Range: S. 452 - 458
Date: 2018
Publisher: NATURE PUBLISHING GROUP
Place of Publication: NEW YORK
ISSN: 1530-0366
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/19202

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