Table 1 CTNNA1 loss-of-function (LOF) variants identified.
Family ID | Ancestry | Gender | History of gastric cancer | History of breast cancer | FDR with gastric or breast cancer | HGVS | Protein effect |
|---|---|---|---|---|---|---|---|
1 | Black/African American | F | – | PNS 40s and 50s | Breast 70s | Deletion of entire coding sequence | Deletion |
2 | White/Caucasian, Native American | F | – | Ductal 70s | Gastric 20s; Breast 30s and 40s | c.105+1G>C | Splice site |
3 | White/Caucasian, Ashkenazi Jewish | F | – | PNS 70s | – | c.105+1G>C | Splice site |
4 | White/Caucasian | F | – | Lobular 60s | – | c.105+1G>C | Splice site |
5 | White/Caucasian | F | – | PNS 50s | – | c.105+1G>C | Splice site |
6 | White/Caucasian | F | – | PNS 60s | c.392dupT | p.Leu131Phefs*13 | |
7 | White/Caucasian | F | – | PNS 60s | Breast 30s and 40s | c.468+1G>A | Splice site |
8 | White/Caucasian | F | Diffuse 30s | – | Ductal 50s | c.926_936del | p.Leu309Hisfs*2 |
Mediterranean | F | – | Ductal 50s | Diffuse 30s | c.926_936del | p.Leu309Hisfs*2 | |
White/Caucasian, Italian | F | – | – | Diffuse 30s; Ductal 50s | c.926_936del | p.Leu309Hisfs*2 | |
9 | White/Caucasian | F | – | PNS 30s | – | c.1078_1081del | p.Arg360Valfs*8 |
10 | Unknown | F | – | PNS unknown age | Breast 30s, unknown age, and unknown age | c.1246_1294del | p.Val416Argfs*14 |
11 | White/Caucasian | F | – | PNS 70s | Breast 40s | c.1261C>T | p.Gln421* |
12 | White/Caucasian | F | – | PNS 30s | – | c.1330dup | p.Glu444Glyfs*23 |
13 | White/Caucasian, Hispanic | F | Diffuse 20s | – | – | c.1351C>T | p.Arg451* |
White/Caucasian | F | – | – | Diffuse 20s | c.1351C>T | p.Arg451* | |
White/Caucasian, Hispanic | M | – | – | Diffuse 20s | c.1351C>T | p.Arg451* | |
14 | Hispanic | F | Diffuse 30s | – | Gastric 50s | c.1351C>T | p.Arg451* |
15 | White/Caucasian | F | – | Ductal 50s | – | c.1351C>T | p.Arg451* |
16 | White/Caucasian | F | – | Ductal 40s | – | c.1390-?_1546+?del | Deletion Exon 11 |
17 | Black/African American | F | – | PNS 30s | – | c.1613_1617 dupTGGAC | p.Arg540Trpfs*18 |
18 | Black/African American | F | Diffuse 10s | – | – | c.1997delG | p.Gly666Alafs*56 |
19 | Ashkenazi Jewish | F | – | – | Breast 70s | c.2023C>Ta | p.Gln675*a |
20 | Hispanic | F | – | PNS 70s | Gastric 60s, 70s, and 70s; Breast 60s | c.2023C>Ta | p.Gln675*a |
21 | White/Caucasian, Ashkenazi Jewish | M | – | – | – | c.2023C>Ta | p.Gln675*a |
22 | White/Caucasian | F | – | – | Breast 40s and 40s | c.2191C>T | p.Arg731* |
23 | White/Caucasian | F | – | PNS 60s | Breast 40s, 40s, 50s, 50s, and 80s | c.2393_2394insT | p.Glu799Argfs*79 |
24 | White/Caucasian | F | – | PNS 50s and 70s | – | c.2443_2462dup | p.Ala822Profs*4 |
25 | White/Caucasian | F | – | PNS 60s | Breast 30s and 40s | c.2491C>T | p.Gln831* |
26 | White/Caucasian, Ashkenazi Jewish | F | – | Ductal 40s | – | c.2621_2622delAA | p.Lys874Thrfs*3 |
27 | White/Caucasian | F | – | Ductal 50s | – | c.2621_2627 dupAACAGGA | p.Asp876Glufs*4 |
28 | Ashkenazi Jewish | F | – | – | – | c.2635_2636delCA | p.Gln879Aspfs*4 |
29 | White/Caucasian | F | – | PNS ≤40s | – | c.2635_2636delCA | p.Gln879Aspfs*4 |
