genetic
Lynch syndrome
nonpolyposis colorectal cancer (HNPCC) is a hereditary to colon cancer.
Underlined words are explained — tap any of them.
An open question — could you help answer it?
Across the cancer gene set (BRCA1, BRCA2, MLH1, MSH2, TP53), 108 -'' are actually seen in South Asians () - many European-absent and still clinically 'uncertain'. For lynch , that's a pool of computationally-damaging, India-relevant, clinically-unresolved variants no one has systematically characterised.
A study that would help: Take the South-Asian-observed, European-absent, ClinVar-uncertain in BRCA1, BRCA2, MLH1, MSH2, TP53 and triage them for lynch : functional assays or family segregation to move them from 'uncertain' to a real call. Each reclassified is a usable diagnostic result.
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