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Principal Investigator
Paul Pinsky
Position Title
Chief, Early Detection Branch
About this CDAS Project
PLCO (Learn more about this study)
Project ID
Initial CDAS Request Approval
Jul 17, 2020
BRCA and HNPCC Carriers in PLCO
We are interested in identifying subjects with known or suspected pathogenic variants of the BRCA1-2 genes and of the primary HNPCC-related genes and assessing cancer outcomes and family history.

Aim 1. Assess the aggregate prevalence of all pathogenic variants of BRCA and of HNPCC, and assess the prevalence of some specific more common variants. Also assess prevalence by race/ethnicity.
Aim 2. Examine the cancer family history of HNPCC and BRCA carriers, compared to general PLCO population. For HNPCC, assess the Amsterdam & Bethesda criteria for Lynch Syndrome.
Aim 3. For BRCA carriers, assess the rates of breast and ovarian cancers, and selected other cancers, for carriers versus non-carriers. Assess the proportion of breast cancer cases by age group that are BRCA carriers. For HNPCC carriers, assess the rates of CRC, and selected other cancers, compared to the general PLCO population. Assess the prevalence of adenomas (advanced adenomas) in carriers compared to non-carriers. Assess the proportion of CRC cases by age group that are HNPCC carriers.
Aim 4. Depending on adequate numbers of cases, assess stage and survival of breast cancer cases among BRCA carriers vs non-carriers. Similarly, for CRC and HNPCC carriers.


Claire Zhu
Daoud Meerzaman