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Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.

Jean Pascal Demba DiopRokhaya Ndiaye DialloViolaine Bourdon-HugueninAhmadou DemDoudou DioufMamadou Moustapha DiengSeydi Abdoul BaYacouba DiaSidy KaBabacar MbengueAlassane ThiamOumar FayePapa Amadou DiopHagay SobolAlioune Dieye
Published in: BMC medical genetics (2019)
This is the first report of a novel BRCA2 pathogenic variant in a Senegalese family with hereditary breast cancer. This result confirms the diversity of hereditary breast cancer pathogenic variants across populations and extends our knowledge of genetic susceptibility to breast cancer in Africa.
Keyphrases
  • breast cancer risk
  • healthcare
  • copy number
  • genome wide
  • dna methylation