Impact of population screening for Lynch syndrome insights from the All of Us data

Lynch Syndrome (LS) is a common genetic cancer condition that allows for personalized cancer prevention and early cancer detection in identified gene carriers. We used data from the All of Us (AOU) Research Initiative to assess the prevalence of LS in the general U.S. population, and analyzed demographic, personal, and family cancer history, stratified by LS genotype to compare LS and non-LS carriers. The results suggest that population-based germline testing for LS may identify up to 63.2% of carriers who might remain undetected due to lack of personal or family cancer history. LS affects about 1 in 354 individuals in this U.S. cohort, where pathogenic variants in the genes MSH6 and PMS2 account for the…

• NI
  National Institutes of Health

  Awards: OD026553, 3 OT2 OD025315, OT2 OD026551, U24 OD023121, 3 OT2 OD023206, 1 OT2 OD025276, AOD 16037, 1 U24 OD023121, OT2 OD025277, OT2 OD025315, 1 OT2 OD026549, OT2 OD026557, 1 U24 OD023163, 1 OT2 OD026551, 1 OT2 OD026550, 1 OT2 OD 026552, U2C OD023196, OT2 OD 026552, OT2 OD026553, 3 OT2 OD023205, 1 OT2 OD026554, 1 OT2 OD025337, OT2 OD023206, OT2 OD026554, OT2 OD026556, OT2 OD026550, OT2 OD026548, OT2 OD026555, 1 OT2 OD026548, 1 OT2 OD026555, K25CA267052, OT2 OD026549, OT2 OD025337, U24 OD023163, 1 OT2 OD026557, 1 OT2 OD026553, 1 OT2 OD025277, OT2 OD025276, U24 OD023176, 5 U2C OD023196, 1 OT2 OD026556, HHSN 263201600085U, 263201600085U, OT2 OD023205
• NC
  National Cancer Institute

  Award: K25CA267052