Table 2 Characteristics of patients with germline Medically Actionable Variants
From: Additional germline findings from a tumor profiling program
Pt | Cat | Sex | Cancer (Age at diagnosis) | HCS | Variant in PBL (AF) |
|---|---|---|---|---|---|
1 | A | F | Desmoid tumor (32), Rectal cuff adenocarcinoma (43) | FAP | APC c.3927_3931del (p.Glu1309AspfsX4) (29%) |
2 | A | F | Embryonal Rhabdomyosarcoma (3), Thyroid (18), Peripheral Nerve Sheath Tumor (23), Renal leiomyosarcoma (29), Extraosseous sarcoma (31) | LFS | TP53 c.743G > A (p.Arg248Gln) (48%) |
3 | B | F | Breast Cancer (39), Colorectal adenocarcinoma (39), Pleomorphic sarcoma (54), Lung Adenocarcinoma (55) | LFS | TP53 c.473G > A (p.Arg158His) (57%) |
4 | C | F | Papillary Thyroid (28),Non-melanotic Skin Cancer (35), Breast Cancer (37), Lung Adenocarcinoma (39) | LFS | TP53 c.817C > T (p.Arg273Cys) (53%) |
5 | C | M | Gastro-esophageal junction adenocarcinoma (29) | LFS | TP53 c.818G > A (p.Arg273His) (52%) |
6 | C | M | Ileocecal valve adenocarcinoma (36) | LFS | TP53 c.467G > A (p.Arg156His) (49%) |
7 | C | M | Esophageal adenocarcinoma (75) | Sch | SMARCB1 c.143C > T (p.Pro48Leu) (72%) |
8 | D | F | Gallbladder Cancer (74) | N/A | TP53 c.524G > A (p.Arg175His) (16%) |