BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan

Ida Biunno, Gitana Aceto, Khalid Dafaallah Awadelkarim, Annalisa Morgano, Ahmed Elhaj, Elgaylani Abdalla Eltayeb, Dafalla Omer Abuidris, Nasr Eldin Elwali, Chiara Spinelli, Pasquale De Blasio, Ermanna Rovida, Renato Mariani-Costantini

Research output: Contribution to journalArticlepeer-review


Premenopausal breast cancer (BC) is one of the most common cancers of women in rural Africa and part of the disease load may be related to hereditary predisposition, including mutations in the BRCA1 gene. However, the BRCA1 mutations associated with BC in Africa are scarcely characterized. We report here 33 BRCA1 point mutations, among which 2 novel missense variants, found in 59 Central Sudanese premenopausal BC patients. The high fractions of mutations with intercontinental and uniquely African distribution (17/33, 51.5 % and 14/33, 42.4 %, respectively) are in agreement with the high genetic diversity expected in an African population. Overall 24/33 variants (72.7 %) resulted neutral; 8/33 of unknown significance (24.3 %, including the 2 novel missense mutations); 1 (3.0 %) overtly deleterious. Notably, in silico studies predict that the novel C-terminal missense variant c.5090G>A (p.Cys1697Tyr) affects phosphopeptide recognition by the BRCA1 BRCT1 domain and may have a pathogenic impact. Genetic variation and frequency of unique or rare mutations of uncertain clinical relevance pose significant challenges to BRCA1 testing in Sudan, as it might happen in other low-resource rural African contexts.

Original languageEnglish
Pages (from-to)437-444
Number of pages8
JournalFamilial Cancer
Issue number3
Publication statusPublished - Sep 1 2014


  • Africa
  • BRCA1
  • Breast cancer
  • Germline mutations
  • Premenopausal
  • Sudan

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Oncology
  • Genetics(clinical)
  • Medicine(all)


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