Somatic mutations in the BRCA1 gene in sporadic ovarian tumours

  title={Somatic mutations in the BRCA1 gene in sporadic ovarian tumours},
  author={Sof{\'i}a D. Merajver and Trinh M. Pham and Rosemarie F. Caduff and Martha M. Chen and Ellen L. Poy and Kathleen A Cooney and Barbara L. Weber and Francis S. Collins and Carolyn J Johnston and Thomas S. Frank},
  journal={Nature Genetics},
The BRCA1 gene on chromosome 17q21 is responsible for an autosomal dominant syndrome of increased susceptibility to breast and ovarian cancer but no somatic mutations in tumours have yet been described. To study the potential role of BRCA1 in sporadic carcinogenesis, we analysed the genomic DNA of tumour and normal fractions of 47 ovarian cancers for mutations in BRCA1 using the single–strand conformation polymorphism technique. We now describe somatic mutations in the DNA of four tumours which… CONTINUE READING


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