Table 2.
Presumed germline findings nominated on MTB reports.
| Gene | Cancer Type | SNV Function |
SNV Nucleotide Change |
SNV Amino Acid Change |
RefSNP Number |
CNA Number of Exons |
CNA Position |
|---|---|---|---|---|---|---|---|
| ATM | Small intestinal | frameshift | c.6710dup | p.E2238fs*11 | - | - | - |
| BRCA1 | Ovarian | nonsense | c.2800C > T | p.Q934 * | rs80357223 | - | - |
| Small intestinal | missense | c.236T > G | p.F79C | - | - | - | |
| Ovarian | missense | c.5557T > A | p.Y1853N | - | - | - | |
| BR CA 2 | Ovarian | nonsense | c.6952C > T | p.R2318* | rs80358920 | - | - |
| HCC | frameshift | c.5110_5113delAGAA | p.R1704fs*1 | - | - | - | |
| Small intestinal | missense | c.8524C > T | p.R2842C | rs80359104 | - | - | |
| Pancreatic | nonsense | c.7969A > T | p.K2657 * | - | - | - | |
| BRIP1 | Ovarian | nonsense | c.1741C > T | p.R581 * | rs780020495 | - | - |
| MSH6 | Esophageal | missense | c.1082G > A | p.R361H | rs63750440 | - | - |
| PTEN | Uterine | nonsense | c.733C > T | p.Q245 * | rs786202918 | - | - |
| Ovarian | missense | c.376G > A | p.A126T | rs1554898129 | - | - | |
| Breast | nonsense | c.295G > T | p.E99 * | - | - | - | |
| RAD51 | Gastric | frameshift | c.1dup | p.M1fs | rs55714242 | - | - |
| RB1 | Sarcoma | frameshift | c.869delA | p.N290fs*11 | rs1131690901 | - | - |
| Colorectal (CNA_loss) | - | - | - | - | 16 of 27 | chr13:48881414-49010994 | |
| SMAD4 | Colorectal | missense | c.1487G > A | p.R496H | rs876660045 | - | - |
| Colorectal | missense | c.1081C > T | p.R361C | rs80338963 | - | - | |
| Colorectal | missense | c.290G > A | p.R97H | rs1555685159 | - | - | |
| Colorectal | frameshift | c.282delC | p.Y95fs*15 | - | - | - | |
| Pancreatic | nonsense | c.346C > T | p.Q116 * | - | - | - | |
| Bile duct | missense | c.1058A > G | p.Y353C | rs377767346 | - | - | |
| STK11 | Gastric (CNA_loss) | - | - | - | - | 8 of 9 | chr19:1152647-1223171 |
| NSCLC | missense | c.580G > A | p.D194N | rs121913315 | - | - | |
| TP53 | Ovarian | splice | c.672 + 1G > A | - | rs863224499 | - | - |
| TSC2 | Colorectal | nonsense | c.3412C > T | p.R1138 * | rs45451497 | - | - |
Bold, patients who contacted a genetic counselor; ATM, ataxia telangiectasia mutated; BRCA1, breast cancer susceptibility gene1; BRCA2, breast cancer susceptibility gene 2; BRIP1, BRCA1 interacting protein C-terminal helicase 1; CNA, copy number alteration; HCC, hepatocellular carcinoma; MSH6, mutS homolog 6; MTB, molecular tumor board; NSCLC, non-small cell lung cancer; PTEN, phosphatase and tensin homolog; RB1, retinoblastoma 1; RefSNP, reference single nucleotide polymorphism; SMAD4, mothers against decapentaplegic homolog 4; SNV, single nucleotide variant; STK11, serine/threonine kinase 11; TP53, tumor protein P53; TSC2, tuberous sclerosis complex 2.