Indicadores
BARD1 Gene
This gene plays a role in cellular response and is susceptible to oncogenic mutations in breast and ovarian cancers.
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Indicadores
This gene plays a role in cellular response and is susceptible to oncogenic mutations in breast and ovarian cancers.
Indicadores
A fusion gene that results from a translocation t(9;22)(q34;q11) that fuses the 5' part of the BCR gene to the 5' side of exon 2 of the ABL1 gene. There are 3 potential products that are formed depending on which BCR exon has the breakpoint. All of the protein products have constitutively active tyrosine kinase activity. This fusion is associated with both chronic myeloid leukemia and acute lymphoblastic leukemia.
Indicadores
This gene plays a role in body weight homeostasis and cellular proliferation. Mutations in the gene are associated with acute myeloid leukemia.
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An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage.
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This gene plays a role in mitogenesis and differentiation and mutations in the gene are associated with craniosynostotic syndromes and bone malformations.
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This gene plays a role in bone development and maintenance and mutations in the gene are associated with craniosynostosis and several types of skeletal dysplasia.
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Immunoglobulin Light Chain Kappa is one of two Ig light chain types. Each Ig molecule is typically composed of two heavy chains and two light chains. Ig kappa light chains contain a variable and a constant region. Kappa light chains are encoded by multiple V, J, and C gene segments, which are separated in the genomes of cells undifferentiated with regard to antibody gene expression. Diversity in the kappa light chain V region arises during differentiation of an activated (kappa-type) antibody-producing B-cell from variable recombination of kappa V genes with kappa J genes and somatic point mutation, which plays a major role in antibody diversity. (from OMIM and NCI)
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Immunoglobulin Light Chain Lambda is one of two Ig light chain types. Each Ig molecule is typically composed of two heavy chains and two light chains but Ig lambda light chains contain a variable and a constant region. Lambda light chains are encoded by multiple V, J, and C gene segments, which are separated in the genomes of cells undifferentiated with regard to antibody gene expression. During differentiation of an activated (lambda-type) antibody-producing B-cell, diversity in the lambda light chain V region arises from variable recombination of lambda V genes with lambda J genes and somatic point mutation, which plays a major role in antibody diversity. (from OMIM 147220 and NCI)
Indicadores
This gene plays a role in cellular hematopoiesis and differentiations. Mutations in the gene are associated with several diseases, including acute myelogenous leukemia, gastrointestinal tumors, and mast cell disease.
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This gene plays a role in DNA mismatch repair mutations in the gene result in hereditary nonpolyposis colorectal cancer-1.
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This gene plays a role in neuronal development and cellular differentiation. Mutations in the gene are associated with medulloblastomas, secretory breast carcinomas and other cancers.
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This gene is involved in mismatch repair and mutations in the gene result in hereditary non-polyposis colon cancer 3.