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Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.
Riahi, Aouatef Radmanesh, Hoda Schürmann, Peter Bogdanova, Natalia Meddeb, Rym Kharrat, Maher Dörk, Thilo
Riahi, Aouatef
Radmanesh, Hoda
Schürmann, Peter
Bogdanova, Natalia
Meddeb, Rym
Kharrat, Maher
Dörk, Thilo
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2018-06-15
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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.
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Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene. 2018, 142 (12):2512-2517 Int. J. Cancer
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en
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1097-0215