Table 1. GT198 variants in breast and ovarian cancer cases.
| GT198 variant | rs-nmnber | localisation | family-ID | Index | cancer of index with age of onset (y) | neoplasia in other relatives | FFPE analyses |
|---|---|---|---|---|---|---|---|
| c.-115G>A | rsl 91843707 | 5′-UTR | A | A13 | BC (DCIS, ER-,PR-, HER+)(33y) | A4: GC; A5: GC;A10: lob. BC, EC | |
| c.-70T>A | rs752276800 | 5′-UTR | B | B19 | BC (DC, ER+,PR+, HER-) (36y) | B4: BC (LCIS); Bll: bBC (DC, DCIS, ER+.PR+.HER−); B15: RC | B19: BC; Bll: BC |
| c.-37A>T | rsl 99620968 | 5′-UTR | C | C4 | OC (35y) BC (DC, ER+,PR+, HER-) (61y) |
C3: BC | C4: BC |
| D | D13 | BC (68y), CC (76y) | D4: UBC; D6: OC; D8: CC; Dll: PC; D14: BC; D17:M | ||||
| c.-24C>G | rs200359709 | 5′-UTR | E | E10 | BC (DC, ER+,PR+) (42y), PaC (45y) | E9: BC (DC) | E10: BC |
| c.519G>A, p.(Trpl73*) | none | exon 6 | F | F16 | BC (DC) (33y) | F7: LC; F11: LC; F12: LC; F13 -.LC-, FI 7: BC (DC, ER+.PR+, HER-); is also heterozygous for c.-37A>T | F16: BC; F17: BC |
| c. 537+51G>C | rs375509656 | intron 6 | G | G9 | BC (ER+,PR-, HER-) (59y) | G3: PC; G4: BC; G6: BC; G10: bBC (DC, ER+,PR+,HER+) | G9: BC |
| c.*24G>A | none | 3′-UTR | H | H16 | BC (DC, ER+,PR+, HER-) (36y) | H2: SC -,H17:BC (DC, ER+.PR+, HER-) |
Breast cancer (BC); Ovarian cancer (OC); b, bilateral; DC, invasive ductal breast carcinoma; DCIS, ductal carcinoma in situ; LCIS, lobular carcinoma in situ; lob. BC, lobular breast cancer; CC, colon cancer; EC, endometrial cancer; GC, gastric cancer; LC, lung cancer; M, meningioma; PaC, pancreas cancer; PC, prostate cancer; RC, renal carcinoma; SC, skin cancer; UBC, urinary bladder cancer; HER-: HER2 overexpression-negative; HER+, HER2 overexpression-positive; PR+: progesterone receptor-positive BC; PR-: progesterone receptor-negative BC; ER+: estrogen receptor-positive BC; ER-: estrogen receptor-negative BC; HER, ER and PR status were obtained from archival medical reports. FFPE analyses: listed the cases in which mutation analyses of GT198 with genomic DNA from archived formalin fixed paraffin embedded tumors were also performed. Family members, in which segregation analysis for the respective variants were performed are italicized.