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dc.contributor.authorRiahi, Aouatef
dc.contributor.authorRadmanesh, Hoda
dc.contributor.authorSchürmann, Peter
dc.contributor.authorBogdanova, Natalia
dc.contributor.authorGeffers, Robert
dc.contributor.authorMeddeb, Rym
dc.contributor.authorKharrat, Maher
dc.contributor.authorDörk, Thilo
dc.date.accessioned2018-05-03T14:04:05Z
dc.date.available2018-05-03T14:04:05Z
dc.date.issued2018-06-15
dc.identifier.citationExome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene. 2018, 142 (12):2512-2517 Int. J. Canceren
dc.identifier.issn1097-0215
dc.identifier.pmid29363114
dc.identifier.doi10.1002/ijc.31273
dc.identifier.urihttp://hdl.handle.net/10033/621364
dc.description.abstractBreast 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.isoenen
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.titleExome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.en
dc.typeArticleen
dc.contributor.departmentHelmholtz-Zentrum für Infektionsforschung GmbH, Inhoffenstr. 7, 38124 Braunschweig, Germany.en
dc.identifier.journalInternational journal of canceren
html.description.abstractBreast 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.


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