Next Generation Sequencing-Based Germline Panel Testing for Breast and Ovarian Cancers in Pakistan.

ABSTRACT:

Background

Pathogenic germline mutations in BRCA1/2 constitute the majority of hereditary breast and/or ovarian cancers worldwide. Incidence and mortality rate of breast and ovarian cancers in Pakistani women is high. Thus, to establish the diagnosis for targeted therapy in Pakistan, we conducted Next-generation sequencing-based germline testing for the detection of BRCA1/2 oncogenic variants associated with breast and ovarian cancer subtype.

Methods

Peripheral blood of 24 women, diagnosed with breast and epithelial ovarian cancers, was taken from the recruited cases with the consent of performing germline genetic testing. DNA was isolated from the peripheral blood and subjected to indexed BRCA Panel libraries. Targeted NGS was performed for all coding regions and splicing s

SUBMITTER: Tariq H 

PROVIDER: S-EPMC8286662 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature