Lung cancer- MedGen UID:
- 66885
- •Concept ID:
- C0242379
- •
- Neoplastic Process
A primary or metastatic malignant neoplasm involving the lung.
Li-Fraumeni syndrome 1- MedGen UID:
- 322656
- •Concept ID:
- C1835398
- •
- Disease or Syndrome
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a broad spectrum of cancers including early-onset cancers. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. Other cancers associated with LFS include leukemia, colorectal cancer, stomach cancer, lung cancer, melanoma, pediatric head and neck cancers, pancreatic cancer, and prostate cancer. Cancer survivors are at increased risk for developing additional primary cancers and treatment-related secondary cancers. The lifetime risks of cancer for women and men with classic LFS are 90% and 70%, respectively, and 50% of cancers occur prior to age 40 years.
BAP1-related tumor predisposition syndrome- MedGen UID:
- 482122
- •Concept ID:
- C3280492
- •
- Disease or Syndrome
BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for a specific skin lesion, BAP1-inactivated melanocytic tumors (BIMT; formerly called atypical Spitz tumors), and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous melanoma (CM), renal cell carcinoma (RCC), basal cell carcinoma (BCC), meningioma, and cholangiocarcinoma. Onychopapillomas, hepatocellular carcinoma, and ovarian sex cord-stromal tumors may also be associated with BAP1-TPDS. Affected individuals can have more than one type of primary cancer. In general, the median age of onset of these tumors is younger than in the general population. UM tends to be a more aggressive class 2 tumor with higher risk for metastasis and reduced survival compared to UM occurring in the general population. RCC is usually of clear cell morphology, but other pathologies have been reported. MMe, especially pleural, has better survival and responds better to platinum chemotherapy than MMe not associated with a germline BAP1 pathogenic variant. The penetrance, natural history, life-time cancer risk for carriers, and frequencies of BAP1-associated tumors are yet to be fully determined.
Fanconi renotubular syndrome 5- MedGen UID:
- 1711127
- •Concept ID:
- C5394473
- •
- Disease or Syndrome
Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016).
For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).