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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 2.

Germline DNA sequencing results for participants with pathogenic or likely pathogenic variants identified

Pt # Gene Protein Variant Variant
Class		 Translation
al Impact		 1st diagnosis
and age		 2nd
diagnosis
and age		 FDR
with
Gastric		 SDR
with
Gastric		 Histology of
Gastric Cancer		 Country
of Origin
1 ATM p.D2569* P frameshift Gastric 66 6 1 Adenocarcinoma, Diffuse Type with Signet Rings U.S.A.
2 ATR p.S1609* LP stop gain Gastric 29 1 2 Adenocarcinoma, Intestinal Type U.S.A.
3 BRIP1 p.L43fs*11 P frameshift Gastric 19 0 0 Adenocarcinoma, Intestinal Type U.S.A.
4¥ CDH1 Exon 1–2 deletion P deletion Gastric 45 2 1 Adenocarcinoma, Diffuse Type U.S.A.
5¥ CDH1 p.Arg335Ter P stop gain Gastric 42 2 2 Adenocarcinoma, Diffuse Type with Signet Rings U.S.A.
6¥ CDH1 p.Arg335Ter P stop gain Gastric 68 5 0 Adenocarcinoma, Diffuse Type U.S.A.
7¥ CDH1 p.Arg335Ter P stop gain Gastric 33 2 0 Adenocarcinoma (presumed) U.S.A.
8¥ CDH1 p.A719Lfs*3 P frameshift Gastric 22 1 1 Adenocarcinoma, Diffuse Type with Signet Rings U.S.A.
9¥ CDH1 c.48+2T>C LP Splicing Gastric 42 0 3 Adenocarcinoma, Poorly Differentiated U.S.A.
10 CTNNA1 p.R129* P stop gain Gastric 28 0 0 Adenocarcinoma, Poorly Differentiated U.S.A.
11 FANCC p.R548* P stop gain Gastric 50 1 0 Adenocarcinoma, Poorly Differentiated U.S.A.
12 FLCN p.F20fs*35 P frameshift Gastric 17 0 0 Adenocarcinoma, Diffuse Type with Signet Rings U.S.A.
13¥ MSH2 Exon 1–6 deletion P deletion Gastric 30 Ovarian 45 0 0 Adenocarcinoma (presumed) U.S.A.
14 SBDS p.K62* P stop gain Gastric 40 0 0 Adenocarcinoma, Diffuse Type U.S.A.
15¥ TP53 p.R213* P stop gain Gastric 40 Breast 42 0 0 Adenocarcinoma, Diffuse Type with Signet Rings U.S.A.
16 TP53 p.Q317fs*28 LP frameshift Gastric 47 Sarcoma 48 0 0 Gastrointestinal Stromal Tumor U.S.A.
OGG1 p.L22fs*38 LP frameshift
POLG p.R1096H P missense
17 BRCA2 p.A938fs*21 P frameshift Esophageal 58 Gastric 58 0 0 Adenocarcinoma, Intestinal Type U.S.A.
ITGB7 p.H569fs*116 PTVUS frameshift
18 GNAS p.E138* LP stop gain Gastric 30 Breast 50 0 1 Adenocarcinoma (presumed) Peru
PARP3 p.L285fs*52 PTVUS frameshift

Some participants (Pt) had greater than one variant, shown by alternating colors and Pt#.

No variants were seen more than once. Clinically tested (¥). Cancer diagnoses with age diagnosed is provided. Missing histology has been recorded as Adenocarcinoma (presumed).

Protein truncating variants of uncertain significance (PTVUS), pathogenic (P), and likely pathogenic (LP) variants are included. The number of first (FDR) and second degree (SDR) family members with gastric cancer are provided. United States of America (U.S.A.). Two patients with CFTR variants were removed.