| Health / Medical Topics |
BRCA2 Gene Mutation
A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA2 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA2 gene. Most of these alterations result in a truncated form of the breast cancer type 2 susceptibility protein. Mutations in the BRCA2 gene predispose males to breast cancer. (NCI Thesaurus)
YOU MAY ALSO LIKE
This gene is involved in cell cycle control, DNA repair and the maintenance of genomic stability. It also plays a role in…
BRCA2 and CDKN1A-interacting protein (314 aa, ~36 kDa) is encoded by the human BCCIP gene. This protein may be involved in the…
A gene on chromosome 13 that normally helps to suppress cell growth. A person who inherits certain mutations (changes) in a BRCA2…
BRCA1-associated RING domain protein 1 (777 aa, ~87 kDa) is encoded by the human BARD1 gene. This protein plays a role in…
BRCA1-A complex subunit Abraxas (409 aa, ~67 kDa) is encoded by the human FAM175A gene. This protein is involved in both DNA…
Human BRCA1 wild-type allele is located within 17q21 and is approximately 81 kb in length. This allele, which encodes breast cancer type…
