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Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families.

Kirsi M MäättäRiikka NurminenMinna Kankuri-TammilehtoAnne KallioniemiSatu-Leena LaasanenJohanna Schleutker
Published in: BMC cancer (2017)
These results suggest that the identified EMSY variants are likely neutral at the population level. However, these variants may contribute to breast/ovarian cancer risk in single families. Additional analyses are warranted for rare novel intronic deletions and the 3'UTR variants predicted to have functional roles.
Keyphrases
  • copy number
  • dna methylation
  • amino acid