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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

  1. OMIM :accession 604373
  2. OMIM :accession 609265