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Li Fraumeni syndrome 2 (CHK2 mutation associated)
Genetics:
- highly penetrant familial cancer phenotype
- usually associated with inherited mutations in p53/TP53
- also associated with defects in CHEK2
Properties
ASSOCIATED-NEOPLASM[S]: breast cancer
glial neoplasm (glioma)
sarcoma
:SITE soft tissue
adenocarcinoma of the lung
osteosarcoma
melanoma
osteosarcoma
leukemia
lymphoma
adrenal cortical carcinoma
pancreatic adenocarcinoma
prostate cancer
Database Correlations
OMIM correlations
MORBIDMAP 604373
References
- OMIM :accession 604373
- OMIM :accession 609265