Table 2.
Clinical characteristics of variant carriers in the six families and first-degree relatives with history of cancer
| Family | Individual | Malignancies and histo-subtypes if available (age at diagnosis) | Tumor unknown benign/malignant (age at diagnosis) | Variant status |
|---|---|---|---|---|
| F1 | proband | 4 CMs: all SSMM (34 y, 35 y, 41 y, 44 y) | melanocytic skin tumor (50 y) | p.(Arg265Ter) |
| mother | breast cancer (not verified) | |||
| F2 | proband | 2 CMs: both SSMM (25 y), 2 CMs in situ: both SSMMIS (25 y, 26 y) | p.(Arg265Ter) | |
| father | Prostate cancer (60 y), chromophobe RCC grade 3 (60 y), leiomyosarcoma grade 3 (67 y) | p.(Arg265Ter) | ||
| paternal grandfathera | multiple myeloma (75 y), lung adenocarcinoma (77 y) | |||
| F3 | proband | 3 CMs: all SSMM (46, 47, 48 y), 1 CM in situ: SSMMIS (46 y) | p.(Arg265Ter) | |
| sister | CM: SSMM (67 y) | p.(Arg265Ter) | ||
| mothera | breast cancer: IDC (58 y), carcinoma cells on breast skin (61 y) perhaps metastasis | |||
| F4 | proband | 4 CMs: 1 nodular CM, 3 SSMMs (36 y, 38 y, 47 y, 48 y), 1 CM in situ: SSMMIS (42 y) | p.(Arg265Ter) | |
| mother | colorectal cancer (not verified) | |||
| fathera | myxoid sarcoma grade 2 (74 y) | |||
| F5 | proband | 3 CM in situ: 1 not classified, 1 likely SSMMIS, 1 lentigo maligna (22 y, 28 y, 41 y) 1 CM: SSMM (51 y) |
p.(Arg265Ter) | |
| brother | CM: SSMM (28 y) | |||
| F6 | one MZ twin | thyroid cancer: both papillary and follicular adenocarcinoma (29 y), clear cell RCC (60 y), CM in situ: SSMMIS (61 y) | p.(Arg265Ter) | |
| other MZ twin | thyroid cancer: papillary adenocarcinoma (58 y) | p.(Arg265Ter) | ||
| mothera | adenocarcinoma of unknown primary (likely lung, breast, or genitalia) identified in the femoral bone (56 y) | obligate p.(Arg265Ter) carrier (not tested)b |
Abbreviations: CM, cutaneous melanoma, IDC, invasive ductal carcinoma, RCC, renal cell carcinoma, SSMM, superficially spreading malignant melanoma, SSMMIS, superficially spreading malignant melanoma in situ.
a
Deceased.
b
A relative of the mother (not shown) was confirmed as variant carrier of p.(Arg265Ter); thus, the mother is an obligate variant carrier.