Description (TP53_GERMLINE) |
Family classification:
LFS = strict clinical definition of Li-Fraumeni syndrome (defined by Li and Fraumeni as a Proband with
sarcoma <45 years with a first degree relative with cancer at <45 and another first/second degree relative with
cancer at <45 or sarcoma at any age);
LFL = Li-Fraumeni like for the extended clinical definition of Li-Fraumeni, including the following definitions:
Birch definition: proband with any childhood cancer or sarcoma, brain tumor or adrenocortical carcinoma at <45 years,
with one first or second degree relative with sarcoma, breast cancer, brain tumor, leukemia, or adrenocortical carcinoma
at any age, plus one first or second degree relative in the same lineage with any cancer diagnosed under age 60;
Eeles definition E1: two different tumors which are part of extended LFS in first or second degree relatives at any
age (sarcoma, breast cancer, brain tumor, leukemia, adrenocortical tumor, melanoma, prostate cancer, pancreatic cancer);
Eeles definition E2: sarcoma at any age in the proband with two of the following (two of the tumors may be in the same
individual): breast cancer at <50 years and/or brain tumor, leukemia, adrenocortical tumor, melanoma, prostate cancer,
pancreatic cancer at <60 years or sarcoma at any age).
FH = family history of cancer which does not fulfil LFS or any of the LFL definitions (Birch, Eeles E1 or E2,);
No FH = no family history of cancer;
Na = not available.
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