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. Author manuscript; available in PMC: 2018 Oct 1.
Published in final edited form as: Cancer Genet. 2017 Aug 17;216-217:111–119. doi: 10.1016/j.cancergen.2017.08.001

Table 3.

Germline DNA sequencing results for participants with only protein truncating variants identified

Pt # Gene Protein
Variant		 Variant
Class		 Translational
Impact		 1st
diagnosis
and age		 2nd diagnosis
and age		 3rd diagnosis
and age		 FDR
with
Gastric		 SDR
with
Gastric		 Histology of
Gastric Cancer		 Country
of Origin
19 BUB1B p.L494fs*28 PTVUS frameshift Gastric 73 1 0 Adenocarcinoma, Diffuse Type with Signet Rings U.S.A.
20 CASP5 p.T68fs*27 PTVUS frameshift Gastric 52 0 0 Gastrointestinal Stromal Tumor U.S.A.
21 CEBPZ p.V533* PTVUS frameshift Gastric 40 1 0 Adenocarcinoma, Diffuse Type with Signet Rings U.S.A.
22 GNAQ p.Y101* PTVUS stop gain Gastric 40 0 0 Adenocarcinoma (presumed) U.S.A.
23 LTB4R2 p.V176fs*2 PTVUS frameshift Gastric 46 0 2 Adenocarcinoma (presumed) U.S.A.
24 NEIL1 p.G25fs*14 PTVUS frameshift Gastric 77 2 0 Adenocarcinoma (presumed) U.S.A.
25 POLM p.W490* PTVUS stop gain Gastric 37 0 0 Adenocarcinoma, Diffuse Type with Signet Rings U.S.A.
26 RDM1 p.Y121* PTVUS stop gain Gastric 45 Breast 62 Breast (2nd) 67 2 1 Adenocarcinoma, Diffuse Type with Signet Rings U.S.A.
27 TRAP1 p.R602* PTVUS stop gain Breast 54 Gastric 54 0 0 Adenocarcinoma (presumed) U.S.A.
28 CHTF18 p.L481fs*12 PTVUS frameshift Gastric 71 Colorectal 77 0 0 Adenocarcinoma, Intestinal Type U.S.A.
POLQ p.I1421fs*8 PTVUS frameshift
29 SMUG1 p.Q3* PTVUS stop gain Gastric 34 0 0 Adenocarcinoma, Diffuse Type U.S.A.
RAD1 p.E276fs PTVUS frameshift
30 MCM3 p.S22* PTVUS stop gain Breast 48 Gastric 52 Sarcoma 53 0 0 Adenocarcinoma (presumed) Puerto Rico (U.S. territory)
BCLAF1 p.R875fs PTVUS frameshift

See Table 2 for other descriptors.