http://www.cnr.it/ontology/cnr/individuo/prodotto/ID288138

BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan (Articolo in rivista)

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BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan (Articolo in rivista) (literal)

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Alternative label

Biunno I.; Aceto G.; Awadelkarim K.D.; Morgano A.; Elhaj A.; Eltayeb E.A.; Abuidris D.O.; Elwali N.E.; Spinelli C.; De Blasio P.; Rovida E.; Mariani-Costantini R. (2014)
BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan
in Familial cancer (Dordrecht. Online)
(literal)

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Biunno I.; Aceto G.; Awadelkarim K.D.; Morgano A.; Elhaj A.; Eltayeb E.A.; Abuidris D.O.; Elwali N.E.; Spinelli C.; De Blasio P.; Rovida E.; Mariani-Costantini R. (literal)

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Institute for Genetic and Biomedical Research, National Research Council, Via Fantoli 16/15, Milan, 20138, Italy; MultiMedica Science and Technology Pole, Via Fantoli 16-15, Milan, 20138, Italy; Department of Biomedical Sciences, G. d'Annunzio University, Via dei Vestini, Chieti, 66100, Italy; Department of Molecular Biology, National Cancer Institute (NCI-UG), University of Gezira Hospital Street, P. O. Box 20, Wad Medani, Sudan; Department of Medical, Oral and Biotechnological Sciences, G. d'Annunzio University, Chieti, Italy; Unit of General Pathology, Aging Research Center (CeSI), G. d'Annunzio University Foundation, Via Luigi Polacchi 15/17, Chieti, 66100, Italy; Department of Oncology, National Cancer Institute (NCI-UG), University of Gezira Hospital Street, P. O. Box 20, Wad Medani, Sudan; Department of Biochemistry, Imam Muhammad Bin Saud Islamic University, 7544 - Othman Bin Affan Rd., Al-Nada, Riyadh, 13317-4233, Saudi Arabia; Integrated Systems Engineering S.r.l, Via Fantoli 16-15, Milan, 20138, Italy (literal)

Titolo

BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan (literal)

Abstract

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. (literal)

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