Table 2 Patient characteristics.
Sex | Age of 1st tumour (years) | Tumours in the proband (age of onset, years) | Tumours detected among family members (1st, 2nd and 3rd degree relatives) | Chompret criteria | Kratz category (3) (Phenotypic LFS/LFS/AttenuatedLFS) | TP53 variant (according to NM_00546.6) | TP53-specific variant classification |
|---|---|---|---|---|---|---|---|
M | 10 | Acute lymphoid leukaemia (10 years), parotid mucoepidermal carcinoma (28 years), Soft tissue leiomyosarcoma (28 years), spinocellular carcinoma (33 years) | CNS tumour, thyroid cancer | A | LFS | c.743G > A | P |
F | 21 | Ovarian dermoid cyst (21 years), retroperitoneal leiomyosarcoma (41 years), breast Cancer (41 years), parathyroid cancer (41 years) | CNS tumour, lung cancer | A | LFS | c.589G > C | LP |
M | 38 | Pulmonary malignant PEComa (38 years), sinonasal carcinoma (40 years), prostate Leiomyosarcoma (42 years) | Osteosarcoma, breast cancer, melanoma | A | LFS | c.97-2A > C | P |
F | 1 | Adrenocortical carcinoma (1 years) | CNS tumour, breast cancer | A | LFS | c.460G > A | P |
F | 24 | Breast cancer (24 years) | CNS tumour, leukaemia | A | LFS | c.536A > T | P |
F | 37 | Dermatofibrosarcoma (37 years), renal cancer (39 years), thyroid cancer (49 years), breast Cancer (57 years) | CNS tumour, pancreas cancer, bladder cancer | A | Phenotypic LFS | – | – |
F | 38 | Bilateral breast cancer (38, 64 years) | Adrenocortical cancer, parotid cancer, lymphoma, Colorectal cancer | A | Phenotypic LFS | – | – |
F | 28 | Breast cancer (28 years) | Liposarcoma, breast cancer, lung cancer | A | Phenotypic LFS | – | – |
F | 28 | Breast cancer (28 years) | CNS tumour, lung cancer, breast cancer | A | LFS | c.493C > T | LP |
F | 39 | Acute lymphoid leukaemia (11 years), breast cancer (39 years) | Breast cancer | A | Phenotypic LFS | – | – |
F | 39 | Breast cancer (39 years) | CNS tumour, leukaemia, colorectal cancer, breast Cancer, hepatocellular cancer, endometrial cancer | A | Phenotypic LFS | – | – |
F | 40 | Bilateral breast cancer (61, 65 years), lymphosarcoma (71 years) | No familial data due to the holocaust | A | Phenotypic LFS | – | – |
F | 33 | Bilateral breast cancer (33, 35 years) | Adrenocortical cancer | A | LFS | c.902delC | LP |
F | 35 | Bilateral breast cancer (35, 51 years), melanoma (56 years) | Gastric cancer | – | No LFS | c.79C > A | VUS |
F | 33 | Breast cancer (36 years) | Breast cancer | – | Attenuated LFS | c.323_329dup | LP |
F | 60 | Ovarian cancer (60 years) | Hepatocellular cancer | – | Attenuated LFS | c.743G > A | P |
F | 58 | Breast cancer (58 years) | Basalioma, breast cancer | – | Attenuated LFS | c.764_766del | LP |
F | 56 | Bilateral breast cancer (56, 63 years) | No history of malignant disease | – | Attenuated LFS | c.614A > G | LP |
F | 49 | Breast cancer(49 years) | Ovarian cancer, melanoma | – | No LFS | c.376-2dupA | VUS |
M | 61 | Breast cancer (61 years) | Breast cancer, prostate cancer | – | No LFS | c.375 + 6 T > C | VUS |
F | 54 | Breast cancer (54 years) | Ovarian cancer | – | No LFS | c.466C > T | VUS |
M | 64 | proState cancer (64 years) | No history of malignant disease | – | Attenuated LFS | c.473G > A | P |
