- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: IEA. (OMIM:151623)
- Acute leukemia (HP:0002488): A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). Evidence: IEA. (OMIM:151623)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: IEA. (OMIM:151623)
- Colon cancer (HP:0003003). Evidence: IEA. (OMIM:151623)
- Lung adenocarcinoma (HP:0030078). Evidence: TAS. (OMIM:151623)
- Prostate cancer (HP:0012125): A cancer of the prostate. Evidence: TAS. (OMIM:151623)
- Soft tissue sarcoma (HP:0030448): A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. Evidence: TAS. (OMIM:151623)
- Prostate neoplasm (HP:0100787). Evidence: TAS. (OMIM:151623)
- Choriocarcinoma (HP:0100768): A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. Evidence: IEA. (OMIM:151623)
- Osteosarcoma (HP:0002669): A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. Evidence: TAS. (OMIM:151623)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: IEA. (OMIM:151623)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:151623)
- Adrenocortical carcinoma (HP:0006744): A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. Evidence: IEA. (OMIM:151623)
These phenotypes are associated with the disease Li-Fraumeni syndrome (OMIM:151623).