P2.03-21 MUC16 Germline Mutations May Associate with Inherited Lung Cancer

Germline mutations in driver oncogenes and inherited lung cancer risk independent of smoking history.

Although the single most important risk factor for developing lung cancer is a personal history of cigarette smoking, it is well documented that there also exists inherited lung cancer risk that cannot entirely be accounted for by smoking patterns alone (1). Genome-wide association studies of patients with lung cancer have provided strong evidence for a susceptibility region in chromosome 15q25...

MUC16 overexpression induced by gene mutations promotes lung cancer cell growth and invasion

Air pollution is one of the leading causes of lung cancer. Air pollution-related lung cancer is a deteriorating public health problem, particularly in developing countries. The MUC16 gene is one of the most frequently mutated genes in air pollution-related lung cancer. In the present study, MUC16 mRNA expression was increased in ∼50% of air pollution-related lung cancer samples obtained from pa...

Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma.

Inherited cancer syndromes predispose an individual to development of specific tumors. Somatic and germline mutations in the same tumor suppressor gene, as described in Knudson's two-mutation model, are well recognized. Inherited mutations in the RET proto-oncogene, which encodes a receptor tyrosine kinase, predispose individuals to the multiple endocrine neoplasia type 2 (MEN 2) cancer syndrom...

Full-Exon Pyrosequencing Screening of BRCA Germline Mutations in Mexican Women with Inherited Breast and Ovarian Cancer

Hereditary breast cancer comprises 10% of all breast cancers. The most prevalent genes causing this pathology are BRCA1 and BRCA2 (breast cancer early onset 1 and 2), which also predispose to other cancers. Despite the outstanding relevance of genetic screening of BRCA deleterious variants in patients with a history of familial cancer, this practice is not common in Latin American public instit...

Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.