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Table 2 Results of mutation detection by gene

From: Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles

Gene Total variants Origin status by manual curation PV(LPV) (+VUS) across germline or uncertain origin
Somatic Germline (+variants of uncertain origin)
TP53 27 27 0 0
APC 5 3 2 2
ATM 4 3 1 1
MSH6 3 0 3 3
PMS2 3 0 3 3
BRCA1 2 0 2 2
BRCA2 2 1 1 0 (+1)
CDKN2A 2 1 1 0
BLM 1 0 1 1
BMPR1A 1 1 0 0
CDH1 1 0 0 (+1*) 0
MLH1 1 0 1 1
MSH2 1 0 1 1
NBN 1 1 0 0
SMAD4 1 1 0 0
SMARCB1 1 0 1* 0
Total 56 38 17 (+1) 14 (+1)
  1. *Based on the results of manual validation. However, based on the results of Sanger sequencing on the patients' normal tissue, these variants were found to be somatic, and the patients were not referred for genetic counselling