investigator_user investigator user funding collaborators pending menu bell message arrow_up arrow_down filter layers globe marker add arrow close download edit facebook info linkedin minus plus save share search sort twitter remove user-plus user-minus
  • Project leads
  • Collaborators

Identification and Characterization of Variants of Uncertain Significance (VUS) in BRCA1 and BRCA2

Arun Banuk

1 Collaborator(s)

Funding source

University of Texas MD Anderson Cancer Center
Individuals with deleterious pathogenic germline BRCA1 and BRCA 2 mutations have a up to 80% life time risk breast cancer and up to 50% risk of ovarian cancer. While there are guidelines available for effective breast cancer risk reduction in individuals with deleterious pathogenic BRCA1 and BRCA 2 mutations, variant of uncertain significant (VUS) changes in these BRCA 1 and BRCA 2 genes pose a serious clinical dilemma for patients, their family members and their health care providers; because unfortunately risk reduction guidelines do not exist for individuals with VUSs. These individuals are faced with uncertainty of cancer risk and the stress of hopefully having made the right decision by opting (or not opting) for aggressive risk reductive interventions, such as preventive bilateral mastectomy and/or oophorectomy. There is very limited data available on VUS classifications and correlations within different ethnic groups. Through a global collaborative effort we will describe, compare and characterize VUSs in patients with breast cancer and also correlate with development of triple negative breast cancer.

Related projects