Study of Constitutional Genetic Markers In Familial Cancer Cases

Advanced genotyping technology like NGS-WES have encouraged in-depth study of the human exome for constitutional genetic variants like BRCA2, BRCA1 in familial cancer cases like HBOC (Hereditary Breast and Ovarian cancers); however, there can be unreported constitutional genetic variants which may increase the genetic predisposition to cancer, which needs to be studied in different ethnicities. We propose enrolment of families with a strong history of cancer in blood relatives from Gujarat, to study the constitutional genetic variants. Our findings will help in cancer risk assessment, therapy management, and genetic counseling.