{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T13:04:21Z","timestamp":1771506261153,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,2,5]],"date-time":"2018-02-05T00:00:00Z","timestamp":1517788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"German Ministry of Education and Research"},{"name":"Tunisian Ministry for Higher Education and Scientific Research","award":["TUNGER-70"],"award-info":[{"award-number":["TUNGER-70"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2018,6,15]]},"abstract":"<jats:p>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 <jats:italic>BRCA1<\/jats:italic>\/<jats:italic>BRCA2<\/jats:italic> mutation\u2010negative patients with familial breast cancer and identified a novel frameshift mutation in <jats:italic>RCC1<\/jats:italic>, encoding the Regulator of Chromosome Condensation 1. Subsequent genotyping detected the 19\u2010bp deletion in additional 5 out of 153 (3%) breast cancer patients but in none of 400 female controls (<jats:italic>p<\/jats:italic>\u2009=\u20090.0015). The deletion was enriched in patients with a positive family history (5%, <jats:italic>p<\/jats:italic>\u2009=\u20090.0009) and co\u2010segregated 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 <jats:italic>RCC1<\/jats:italic> as a likely breast cancer susceptibility gene in the Tunisian population.<\/jats:p>","DOI":"10.1002\/ijc.31273","type":"journal-article","created":{"date-parts":[[2018,1,24]],"date-time":"2018-01-24T07:03:11Z","timestamp":1516777391000},"page":"2512-2517","source":"Crossref","is-referenced-by-count":21,"title":["Exome sequencing and case\u2013control analyses identify <i>RCC1<\/i> as a candidate breast cancer susceptibility gene"],"prefix":"10.1002","volume":"142","author":[{"given":"Aouatef","family":"Riahi","sequence":"first","affiliation":[{"name":"Gynaecology Research Unit, Hannover Medical School Hannover Germany"},{"name":"Laboratoire G\u00e9n\u00e9tique Humaine, Facult\u00e9 de M\u00e9decine de Tunis, University Tunis El Manar Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hoda","family":"Radmanesh","sequence":"additional","affiliation":[{"name":"Gynaecology Research Unit, Hannover Medical School Hannover Germany"},{"name":"Medical Genetic Research Center (MGRC), School of Medicine Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Sch\u00fcrmann","sequence":"additional","affiliation":[{"name":"Gynaecology Research Unit, Hannover Medical School Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Bogdanova","sequence":"additional","affiliation":[{"name":"Gynaecology Research Unit, Hannover Medical School Hannover Germany"},{"name":"Hannover Medical School Radiation Oncology Research Unit Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Geffers","sequence":"additional","affiliation":[{"name":"Genome Analytics Unit, Helmholtz Centre for Infection Research Braunschweig 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