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Table 1 Genes included in the customized On-Demand Panel

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

PenetranceSyndromeGene (reference sequence)
HighHBOCBRCA1 (NM_007300.3) BRCA2(NM_000059.3)
HIghHNPCCMLH1 (NM_000249.3) MSH2 (NM_000251.2) MSH6 (NM_000179.2)
PMS2 (NM_000535.6) EPCAM (NM_002354.2)
HighOthersAPC (NM_000038.5) BMPR1A (NM_004329.2) CDH1 (NM_004360.4) CDK4 (NM_000075.2) MUTYH (NM_005591.3) KRAS (NM_033360.3)
PTEN (NM_000314.4) SMAD4 (NM_005359.5) STK11 (NM_000455.4)
TP53 (NM_000546.5)
Moderate-LowMultiplesATM (NM_000051.3) ATR (NM_001184.3) BLM (NM_000057.3)
BARD1 (NM_000465.3) BRIP1 (NM_032043.2) CHEK2 (NM_007194.3)
FAM175A (NM_139076.2) NBN (NM_002485.4) MEN1 (NM_000244.3)
PALB2 (NM_024675.3) FANCM(NM_020937.3) MRE11A(NM_005591.3)
PRKAR1A (NM_212471.2) RAD50 (NM_005732.3) RAD51C (NM_058216.2)
RAD51D (NM_001142571.1) POLD1 (NM_001256849.1) POLE (NM_006231.3)
  1. HBOC Hereditary Breast and Ovarian Cancer, HNPCC Hereditary Non Polyposis Colon Cancer
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