Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.
dc.contributor.author | Riahi, Aouatef | |
dc.contributor.author | Radmanesh, Hoda | |
dc.contributor.author | Schürmann, Peter | |
dc.contributor.author | Bogdanova, Natalia | |
dc.contributor.author | Geffers, Robert | |
dc.contributor.author | Meddeb, Rym | |
dc.contributor.author | Kharrat, Maher | |
dc.contributor.author | Dörk, Thilo | |
dc.date.accessioned | 2018-05-03T14:04:05Z | |
dc.date.available | 2018-05-03T14:04:05Z | |
dc.date.issued | 2018-06-15 | |
dc.identifier.citation | Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene. 2018, 142 (12):2512-2517 Int. J. Cancer | en |
dc.identifier.issn | 1097-0215 | |
dc.identifier.pmid | 29363114 | |
dc.identifier.doi | 10.1002/ijc.31273 | |
dc.identifier.uri | http://hdl.handle.net/10033/621364 | |
dc.description.abstract | Breast cancer is a genetic disease but the known genes explain a minority of cases. To elucidate the molecular basis of breast cancer in the Tunisian population, we performed exome sequencing on six BRCA1/BRCA2 mutation-negative patients with familial breast cancer and identified a novel frameshift mutation in RCC1, encoding the Regulator of Chromosome Condensation 1. Subsequent genotyping detected the 19-bp deletion in additional 5 out of 153 (3%) breast cancer patients but in none of 400 female controls (p = 0.0015). The deletion was enriched in patients with a positive family history (5%, p = 0.0009) and co-segregated with breast cancer in the initial pedigree. The mutant allele was lost in 4/6 breast tumors from mutation carriers which may be consistent with the hypothesis that RCC1 dysfunction provides a selective disadvantage at the stage of tumor progression. In summary, we propose RCC1 as a likely breast cancer susceptibility gene in the Tunisian population. | |
dc.language.iso | en | en |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-sa/4.0/ | * |
dc.title | Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene. | en |
dc.type | Article | en |
dc.contributor.department | Helmholtz-Zentrum für Infektionsforschung GmbH, Inhoffenstr. 7, 38124 Braunschweig, Germany. | en |
dc.identifier.journal | International journal of cancer | en |
html.description.abstract | Breast cancer is a genetic disease but the known genes explain a minority of cases. To elucidate the molecular basis of breast cancer in the Tunisian population, we performed exome sequencing on six BRCA1/BRCA2 mutation-negative patients with familial breast cancer and identified a novel frameshift mutation in RCC1, encoding the Regulator of Chromosome Condensation 1. Subsequent genotyping detected the 19-bp deletion in additional 5 out of 153 (3%) breast cancer patients but in none of 400 female controls (p = 0.0015). The deletion was enriched in patients with a positive family history (5%, p = 0.0009) and co-segregated with breast cancer in the initial pedigree. The mutant allele was lost in 4/6 breast tumors from mutation carriers which may be consistent with the hypothesis that RCC1 dysfunction provides a selective disadvantage at the stage of tumor progression. In summary, we propose RCC1 as a likely breast cancer susceptibility gene in the Tunisian population. |