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, Romania, 22 - 24 June 2017, pp.181-184 identifier identifier

  • Publication Type: Conference Paper / Full Text
  • Volume:
  • Doi Number: 10.1109/ehb.2017.7995391
  • City: Sinaia
  • Country: Romania
  • Page Numbers: pp.181-184
  • Bursa Uludag University Affiliated: Yes

Abstract

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.