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Inheriting one BRCA1 mutation and one BRCA2 mutation has been reported occasionally; the child's risk for any given type of cancer is the higher risk of the two genes (e.g., the ovarian cancer risk from BRCA1 and the pancreatic cancer risk from BRCA2). Inheriting two BRCA2 mutations produces Fanconi anemia. [9]: 82–85
675 12190 Ensembl ENSG00000139618 ENSMUSG00000041147 UniProt P51587 P97929 RefSeq (mRNA) NM_000059 NM_001081001 NM_009765 RefSeq (protein) NP_000050 NP_001074470 NP_033895 Location (UCSC) Chr 13: 32.32 – 32.4 Mb Chr 5: 150.45 – 150.49 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse BRCA2 and BRCA2 are human genes and their protein products, respectively. The official symbol ...
Additionally, the classifier is able to identify similarities in mutational profiles of tumors to that of tumors with BRCA1 and BRCA2 defects, also known as BRCAness. This classifier can be applied to assess the implementation of PARP [1] inhibitors in patients with BRCA1/BRCA2 deficiency. The final output is a probability of BRCA1/2 mutation.
A BRCA2 gene mutation is associated with breast cancer, but it can also raise the risk of other cancers. Woman shares story of her pancreatic cancer diagnosis.
The COSMIC (Catalogue of Somatic Mutations in Cancer) database was designed to collect and display information on somatic mutations in cancer. It was launched in 2004, with data from just four genes, HRAS, KRAS2, NRAS and BRAF. [6] These four genes are known to be somatically mutated in cancer. Since its creation, the database has expanded rapidly.
Database Institute / Organization Alteration Types Primary Source [t 1] Processed Data [t 2] Organisms Cell lines [t 3] Public Data [t 4] Restricted Data [t 5]; The BioExpress® Oncology Suite from Ocimum Bio Solutions contains gene expression data from primary, metastatic, and benign tumor samples, and normal samples, including matched adjacent controls.
The Cancer Genome Atlas (TCGA) is a project to catalogue the genomic alterations responsible for cancer using genome sequencing and bioinformatics. [1] [2] The overarching goal was to apply high-throughput genome analysis techniques to improve the ability to diagnose, treat, and prevent cancer through a better understanding of the genetic basis of the disease.
DECIPHER, a database of chromosomal imbalance and associated phenotype in humans, using Ensembl resources. MARRVEL, a website that uses OMIM as one of the six human genetic databases and seven model organism databases to integrate information.