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Firstly, mutations in known cancer genes are collected from the literature. The list of genes that undergo manual curation are identified by their presence in the Cancer Gene Census. [10] [11] Secondly, data for inclusion in the database is collected from whole genome resequencing studies of cancer samples undertaken by the Cancer Genome ...
Human No Yes Yes Catalogue Of Somatic Mutations In Cancer (COSMIC) →: Wellcome Trust Sanger Institute, UK Mutation: No Yes Human: Yes Yes Yes cBio Cancer Genomics Portal →: Memorial Sloan-Kettering Cancer Center, United States Copy number, Mutation, Methylation, Gene Expression, miRNA Expression, Protein, Phosphorylation: No Yes Human: No ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
If, through mutation, normal genes promoting cellular growth are up-regulated (gain-of-function mutation), they predispose the cell to cancer and are termed oncogenes. Usually, multiple oncogenes, along with mutated apoptotic or tumor suppressor genes, act in concert to cause cancer. Since the 1970s, dozens of oncogenes have been identified in ...
Harmful mutations in BRCA2 - a gene responsible for repairing damaged DNA - significantly increase the risk of breast, ovarian, prostate and pancreatic cancers. About 45% of women who inherit a ...
Mutations in genes that regulate cell division, apoptosis (cell death), and DNA repair may result in uncontrolled cell proliferation and cancer. Cancer is fundamentally a disease of regulation of tissue growth. In order for a normal cell to transform into a cancer cell, genes that regulate cell growth and differentiation must be altered. [13]