Table 1 Additional high-penetrance P/LP variants identified via eGT in genes not associated with the patient’s cancer type
From: Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients
Pt # | Gender | Cancer Dx at the time of testing | Age range at Dx | Additional high-penetrance gene identified | Meets the GT criteria for the additional gene? | Other genes identified in eGT | Other Hx of cancer | OncoKB classification | Future cancer risk management implications |
|---|---|---|---|---|---|---|---|---|---|
1 | F | Colorectal | 60s | BRCA2 | Y | Â | Breast | 3B | Surveillance and prophylactic surgery |
2 | F | Colorectal | 70s | BRCA2 | Y | Â | Breast, lung, sarcoma, skin | 3B | Surveillance and prophylactic surgery |
3 | M | Prostate | 50s | FLCN | Y | CHEK2 | Â | NA | Surveillance |
4 | F | Colorectal | 80s | ETV6 | N | Â | Breast, kidney, chronic lymphocytic leukemia | 3B | Surveillance |
5 | F | Breast | 60s | MSH6 | N | Â | Breast | NA | Surveillance |
6 | F | Colorectal | 60s | BRCA1 | Y | Â | Breast | 3B | Surveillance and prophylactic surgery |
7 | M | Colorectal | 50s | BRCA2 | Y | FANCC | Â | 3B | Surveillance |
8 | F | Breast | 60s | FH | N | Â | Â | NA | Surveillance |
9 | F | Breast | 40s | CDKN2A | N | Â | Melanoma | NA | Surveillance |
10 | F | Breast | 30s | CDKN2A | N | Â | Â | NA | Surveillance |
11 | F | Breast | 50s | MSH6 | N | Â | Â | NA | Surveillance |
12 | M | Prostate | 50s | VHL | N | Â | Â | NA | Surveillance |
13 | F | Breast | 40s | FH | N | CHEK2 | Â | NA | Surveillance |
14 | M | Prostate | 60s | SDHB | N | Â | Â | NA | Surveillance |
15 | F | Colorectal | 50s | BRCA2 | Y | Â | Vulva | 3B | Surveillance and prophylactic surgery |
16 | F | Breast | 30s | MLH1 | Y | Â | Uterus | 1* | Surveillance |
17 | F | Breast | 40s | PMS2 | N | Â | Â | NA | Surveillance |
18 | F | Colorectal | 50s | CDH1 | N | Â | Â | NA | Surveillance and prophylactic surgery |
19 | F | Pancreas | 60s | FLCN | N | Â | Â | NA | Surveillance |
20 | M | Colorectal | 70s | FLCN | N | CHEK2 | Prostate | NA | Surveillance |
21 | M | Prostate | 50s | TP53 | N | Â | Stomach | NA | Surveillance |
22 | M | Colorectal | 40s | BRCA2 | N | APC p.Ile1307Lys | Â | 3B | Surveillance |
23 | F | Colorectal | 50s | BRCA2 | N | Â | Â | 3B | Surveillance and prophylactic surgery |
24 | F | Breast | 30s | MSH6 | N | Â | Â | NA | Surveillance |
25 | M | Pancreas | 60s | STK11 | Y | Â | Â | NA | Surveillance |
26 | F | Breast | 60s | FLCN | N | Â | Â | NA | Surveillance |
27 | M | Prostate | 50s | FH | N | Â | Â | NA | Surveillance |
28 | F | Pancreas | 50s | TSC1 | Y | Â | Â | 3B | Surveillance |
29 | M | Colorectal | 50s | BRCA2 | Y | Â | Bladder | 3B | Surveillance |
30 | F | Ovarian | 40s | TP53 | N | Â | Breast | NA | Surveillance and prophylactic surgery |
31 | F | Colorectal | 40s | BRCA2 | N | MUTYH, FH p.Lys477dup | Â | 3B | Surveillance and prophylactic surgery |
32 | F | Breast | 40s | PMS2 | N | Â | Â | NA | Surveillance |
33 | M | Colorectal | 30s | BRCA2 | N | Â | Â | 3B | Surveillance |
34 | F | Colorectal | 40s | BRCA2 | Y | MUTYH | Â | 3B | Surveillance and prophylactic surgery |
35 | F | Breast | 30s | SDHAF2 | N | Â | Â | NA | Surveillance |
36 | F | Colorectal | 70s | BRCA2 | Y | Â | Â | 3B | Surveillance and prophylactic surgery |
37 | F | Pancreas | 50s | FH | N | BRCA2 | Â | NA | Surveillance |
38 | M | Colorectal | 70s | BRCA1 | N | Â | Eye | 3B | Surveillance |
39 | F | Colorectal | 50s | TP53 | N | Â | Â | NA | Surveillance and prophylactic surgery |
40 | F | Breast | 50s | BAP1 | N | Â | Â | NA | Surveillance |
41 | F | Colorectal | 20s | FH | N | Â | Â | NA | Surveillance |
42 | F | Breast | 40s | DICER1 | N | Â | Â | NA | Surveillance |
43 | F | Colorectal | 50s | BRCA1 | Y | Â | Â | 3B | Surveillance and prophylactic surgery |
44 | M | Colorectal | 40s | PALB2 | N | Â | Â | 3B | Â |
45 | F | Breast | 30s | PMS2 | N | Â | Â | NA | Surveillance |
46 | M | Colorectal | 40s | BRCA1 | N | Â | Â | 3B | Surveillance |
47 | F | Colorectal | 50s | BRCA1 | N | Â | Â | 3B | Surveillance and prophylactic surgery |
48 | M | Prostate | 60s | SDHC | N | Â | Â | NA | Surveillance |
49 | M | Colorectal | 30s | FLCN | N | Â | Â | NA | Surveillance |
50 | M | Colorectal | 50s | BRCA2 | N | Â | Â | 3B | Surveillance |
51 | F | Breast | 40s | RET | N | BRCA1 | Skin | 3B | Surveillance |
52 | M | Colorectal | 20s | BRCA1 | N | CHEK2, ERCC3 | Â | 3B | Surveillance |
53 | F | Breast | 50s | MSH6 | N | Â | Uterus | NA | Surveillance |
54 | F | Colorectal | 30s | BRCA2 | Y | MITF | Breast | 3B | Surveillance and prophylactic surgery |
55 | M | Colorectal | 60s | BRCA2 | Y | Â | Â | 3B | Surveillance |
56 | M | Colorectal | 30s | BRCA1 | Y | MLH1 | Â | 3B | Surveillance |
57 | M | Colorectal | 60s | BAP1 | N | PMS2 | Â | NA | Surveillance |
58 | F | Breast | 40s | DICER1 | N | Â | Â | NA | Surveillance |
59 | M | Colorectal | 40s | PALB2 | N | Â | Â | 3B | Â |
60 | M | Breast | 50s | CDKN2A | N | Â | Â | NA | Surveillance |
61 | F | Ovarian | 50s | BAP1 | N | Â | Â | NA | Surveillance |
62 | M | Prostate | 50s | DICER1 | N | Â | Â | NA | Surveillance |
63 | F | Colorectal | 60s | FH | N | Â | Â | NA | Surveillance |
64 | M | Colorectal | 40s | NF1 | Y | Â | Â | 3B | Surveillance |
65 | F | Colorectal | 40s | PTCH1 | N | Â | Â | NA | Â |
66 | M | Colorectal | 60s | RET | N | Â | Â | 3B | Surveillance |
67 | M | Colorectal | 50s | RET | N | Â | Â | 3B | Surveillance |
68 | F | Colorectal | 30s | RB1 | Y | APC p.Ile1307Lys | Retinoblastoma | NA | Surveillance |
69 | M | Colorectal | 30s | NF1 (mosaic) | N | Â | Â | 3B | Surveillance |
PALB2 | N | Â | Â | 3B | Â |