The Matter of Clinical Sequencing for Familial Breast Cancer: The route from Sanger to Next Generation


ERYILMAZ I. E., Eskiler G. G., ÇEÇENER G., EGELİ Ü., TUNCA B.

6th IEEE International Conference on E-Health and Bioengineering (EHB), Sinaia, Romanya, 22 - 24 Haziran 2017, ss.181-184 identifier identifier

  • Yayın Türü: Bildiri / Tam Metin Bildiri
  • Cilt numarası:
  • Doi Numarası: 10.1109/ehb.2017.7995391
  • Basıldığı Şehir: Sinaia
  • Basıldığı Ülke: Romanya
  • Sayfa Sayıları: ss.181-184
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

We mentioned the importance of clinical sequence analysis in risk determination, diagnostic and therapeutic process of familial breast cancer and we also summarized next generation sequencing applications in this cancer type. In conclusion, BRCA1/2 genes mutations are associated with an increasing the risk of particularly familial breast cancer. However, sequencing of moderate penetrance genes and/or whole exome could also fill large knowledge gaps in explaining genetic predisposition of breast cancer.