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Pathogenicity should be reported with respect to a specific condition and inheritance pattern (e.g., autosomal recessive or dominant). A pathogenic variant meets stringent criteria such as evidence from well-established functional studies or being identified in multiple unrelated individuals with the disease. [1]
Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes.It focuses on genomic, epigenomic and transcript alterations in cancer. Cancer is a genetic disease caused by accumulation of DNA mutations and epigenetic alterations leading to unrestrained cell proliferation and neoplasm formation.
The ACMG, incorporated in 1991, stated mission to give national representation to providers of genetic services and their patients with genetic disorders; to provide education and resources for the medical genetics profession; to improve the health of the public by promoting the development and implementation of methods to diagnose, treat and prevent genetic disease.
Response evaluation criteria in solid tumors (RECIST) is a set of published rules that define when tumors in cancer patients improve ("respond"), stay the same ("stabilize"), or worsen ("progress") during treatment. The criteria were published in February 2000 by an international collaboration including the European Organisation for Research ...
The Common Terminology Criteria for Adverse Events (CTCAE), [1] formerly called the Common Toxicity Criteria (CTC or NCI-CTC), are a set of criteria for the standardized classification of adverse events of drugs and treatment used in cancer therapy. The CTCAE system is a product of the US National Cancer Institute (NCI).
The central role of DNA damage and epigenetic defects in DNA repair genes in carcinogenesis. DNA damage is considered to be the primary cause of cancer. [17] More than 60,000 new naturally-occurring instances of DNA damage arise, on average, per human cell, per day, due to endogenous cellular processes (see article DNA damage (naturally occurring)).
Specifically, it is focused on the study of the cause and pathogenesis (including molecular analyses); delineation (including phenotype analyses, natural history, variability, nosology, and newly recognized syndromes); and management (including genetic counseling, care guidelines, and treatment) of human congenital anomalies and genetic disorders.
Mutated p53 is involved in many human cancers, of the 6.5 million cancer diagnoses each year about 37% are connected to p53 mutations. [30] This makes it a popular target for new cancer therapies. Homozygous loss of p53 is found in 65% of colon cancers, 30–50% of breast cancers, and 50% of lung cancers.