Table 1.

Cancer panel genes tested in 2733 (proband) and 2734 (first-degree relative)

79 gene cancer panel screened for in 2733

(Sequence changes and exonic deletions/duplications), ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, (Promoter region deletion/duplication testing only), HRAS, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1. Sequence changes only: EGFR (c.2369C>T, pThr790Met variants), HOXB13 (c.251G>A, p.Gly84Glu variant), MITF (c.952G>A, p.Glu318Lys variant), SDHA.

29 gene cancer panel screened for in 2734

APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BPRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL, XRCC2