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Table 2 Pathogenic variants (PV)

From: A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

SyndromeCancer typeGenecDNAProteinConsequence
HNPCCOvATMc.1339C > Tp.Arg447TerNonsense
HBOCBrBLMc.1642C > Tp.Gln548TerNonsense
HBOCBrBRIP1c.206-2A > GSplicng
HNPCCOvBRIP1c.1140 + 1G > CaSplicng
HBOCEndCHEK2c.593-1G > TSplicng
HBOCColCHEK2c.1427C > Tp.Thr476MetMissense
HNPCCBrMSH2c.211G > Cp.Gly71ArgMissense
HNPCCBrMSH2c.2131C > Tp.Arg711TerNonsense
HNPCCSkinMUTYHc.1187G > Ap.Gly396AspMissense
HNPCCColMUTYHc.1187G > Ap.Gly396AspMissense
HNPCCGasMUTYHc.1187G > Ap.Gly396AspMissense
HNPCCColMUTYHc.1187G > Ap.Gly396AspMissense
HNPCCColPMS2c.137G > Tp.Ser46IleMissense
  1. cDNA and Protein changes are named according to the HGVS nomenclature
  2. Reference sequence: ATM (NM_000051.3), BLM (NM_000057.3) BRCA1 (NM_007300.3) BRCA2(NM_000059.3) BRIP1 (NM_032043.2) CHEK2 (NM_007194.3) MLH1 (NM_000249.3) MSH2 (NM_000251.2) MSH6 (NM_000179.2) MUTYH (NM_005591.3) PMS2 (NM_000535.6)
  3. The cancer type of the index case is indicated according to the following abbreviations: Br breast cancer, Col colon cancer, End endometrial cancer, Gas gastric cancer, Ov ovarian cancer, Skin skin cancer
  4. aNot previously reported