BRE-AS1
Bre-as1: A Comprehensive Overview
Introduction
Bre-as1 is a gene located on chromosome 17q21.31. It encodes a protein that plays a crucial role in various cellular processes, including cell cycle regulation, DNA repair, and apoptosis (programmed cell death). Dysregulation of this gene can lead to several diseases, primarily breast cancer.
Description
The Bre-as1 gene consists of 17 exons and spans approximately 100 kilobases. It encodes a protein called breast cancer early-onset protein (BRCA1). BRCA1 is a large protein with a molecular weight of approximately 220 kilodaltons and contains various domains that mediate its interactions with other proteins.
Associated Diseases
Mutations in the Bre-as1 gene are primarily associated with the following diseases:
- Hereditary breast cancer (HBOC): HBOC is an inherited condition that significantly increases the risk of developing breast and ovarian cancer. Mutations in Bre-as1 account for approximately 40-50% of HBOC cases.
- Hereditary ovarian cancer (HOC): HOC is another inherited condition that increases the risk of developing ovarian and other gynecologic cancers. Bre-as1 mutations are responsible for 10-15% of HOC cases.
- Male breast cancer (MBC): MBC is a rare form of breast cancer that occurs in men. Mutations in Bre-as1 can increase the risk of MBC, although the exact prevalence is not fully known.
- Other cancers: Bre-as1 mutations have also been linked to an increased risk of developing certain other cancers, such as prostate cancer, pancreatic cancer, and melanoma.
Did you Know ?
According to the National Cancer Institute, an estimated 1 in 400 individuals in the general population carry a mutation in the Bre-as1 gene. This indicates that Bre-as1 mutations are relatively common, highlighting the importance of genetic testing for individuals at increased risk of certain cancers.
