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Title: Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients
Author: Valle, Jesús del
Rofes, Paula
Moreno Cabrera, José Marcos
López Dóriga Guerra, Adriana
Belhadj, Sami
Vargas Parra, Gardenía María
Teulé-Vega, Àlex
Cuesta, Raquel
Muñoz, Xavier
Campos, Olga
Salinas Masdeu, Mònica
Cid, Rafael de
Brunet, Joan
González, Sara
Capellá, G. (Gabriel)
Pineda Riu, Marta
Feliubadaló i Elorza, Maria Lídia
Lázaro García, Conxi
Keywords: Càncer de mama
Càncer d'ovari
Breast cancer
Ovarian cancer
Issue Date: 1-Apr-2020
Publisher: MDPI
Abstract: Fanconi anemia (FA) is caused by biallelic mutations in FA genes. Monoallelic mutations in five of these genes (BRCA1, BRCA2, PALB2, BRIP1 and RAD51C) increase the susceptibility to breast/ovarian cancer and are used in clinical diagnostics as bona-fide hereditary cancer genes. Increasing evidence suggests that monoallelic mutations in other FA genes could predispose to tumor development, especially breast cancer. The objective of this study is to assess the mutational spectrum of 14 additional FA genes (FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FANCP, FANCQ, FANCR and FANCU) in a cohort of hereditary cancer patients, to compare with local cancer-free controls as well as GnomAD. A total of 1021 hereditary cancer patients and 194 controls were analyzed using our next generation custom sequencing panel. We identified 35 pathogenic variants in eight genes. A significant association with the risk of breast cancer/breast and ovarian cancer was found for carriers of FANCA mutations (odds ratio (OR) = 3.14 95% confidence interval (CI) 1.4-6.17, p = 0.003). Two patients with early-onset cancer showed a pathogenic FA variant in addition to another germline mutation, suggesting a modifier role for FA variants. Our results encourage a comprehensive analysis of FA genes in larger studies to better assess their role in cancer risk.
Note: Reproducció del document publicat a:
It is part of: Cancers, 2020, vol. 12, num. 4
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Clíniques)

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