Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition
| Autor: | Maud Privat, Mathis Lepage, Yves-Jean Bignon, Ioana Molnar, Sandrine Viala, Flora Ponelle-Chachuat, Mathias Cavaillé, Mathilde Gay-Bellile, Nancy Uhrhammer, Yannick Bidet |
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| Přispěvatelé: | Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Centre d'Investigation Clinique [CHU Clermont-Ferrand] (CIC 1405), Institut National de la Santé et de la Recherche Médicale (INSERM)-Direction de la recherche clinique et de l’innovation [CHU Clermont-Ferrand] (DRCI), CHU Clermont-Ferrand-CHU Clermont-Ferrand, COLO, Mouniati |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
Cancer Research Candidate gene Colorectal cancer [SDV]Life Sciences [q-bio] Population [SDV.CAN]Life Sciences [q-bio]/Cancer MLH3 Biology 03 medical and health sciences 0302 clinical medicine [SDV.CAN] Life Sciences [q-bio]/Cancer Genetics medicine Humans Genetic Predisposition to Disease FANCM education Research Articles education.field_of_study panel sequencing Cancer medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis 3. Good health [SDV] Life Sciences [q-bio] predisposition to cancer MRE11A breast and ovarian cancer syndrome Genetic Loci 030220 oncology & carcinogenesis Mutation hereditary colorectal cancer Hereditary Breast and Ovarian Cancer Syndrome Female Ovarian cancer candidate genes Research Article |
| Zdroj: | Genes, Chromosomes & Cancer Genes, Chromosomes and Cancer Genes, Chromosomes and Cancer, Wiley, 2020, ⟨10.1002/gcc.22911⟩ Genes, Chromosomes & Cancer, Wiley, 2020, ⟨10.1002/gcc.22911⟩ |
| ISSN: | 1098-2264 1045-2257 |
| DOI: | 10.1002/gcc.22911⟩ |
| Popis: | Hereditary predisposition to cancer concerns between 5 and 10% of cancers. The main genes involved in the most frequent syndromes (hereditary breast and ovarian cancer syndrome, hereditary non-polyposis colorectal cancer syndrome) were identified in the 1990s. Exploration of their functional pathways then identified novel genes for hereditary predisposition to cancer, and candidate genes whose involvement remains unclear. To determine the contribution of truncating variants in 11 candidate genes (BARD1, FAM175A, FANCM, MLH3, MRE11A, PMS1, RAD50, RAD51, RAD51B, RINT1 and XRCC2) to cancer predisposition in a population of interest, panel sequencing was performed in 849 patients with a suspected hereditary predisposition to cancer for whom a diagnostic panel of 38 genes identified no causal mutation. Sixteen truncating variants were found in FANCM (n = 7), RINT1 (n = 4), RAD50 (n = 2), BARD1, PMS1 and RAD51B. FANCM (adjusted p-value: 0.03) and RINT1 (adjusted p-value: 0.04) were significantly associated with hereditary breast and ovarian cancer. However, further studies are required to determinate the risk of cancer, including the segregation of the variants in the families of our cases. No mutation was identified in RAD51, MRE11A, FAM175A, XRCC2, or MLH3. The involvement of these genes in the hereditary predisposition to cancer cannot be ruled out, although if it exists it is rare or does not seem to involve truncating variants. This article is protected by copyright. All rights reserved. |
| Databáze: | OpenAIRE |
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