FAM83A
FAM83A: A Gene with Intriguing Implications for Human Health
Introduction
FAM83A (Family with Sequence Similarity 83, Member A) is a gene that has garnered considerable attention in recent years due to its potential role in a diverse range of human diseases. This comprehensive blog post will delve into the fascinating world of FAM83A, exploring its functions, associated diseases, intriguing statistics, and the latest research advancements.
Description
FAM83A is a gene located on chromosome 19 in humans. It encodes a protein known as FAM83A, which plays a crucial role in cellular processes such as:
- Cell growth and proliferation
- DNA repair
- Immune function
- Signal transduction
FAM83A protein interacts with various other cellular components, including the tumor suppressor protein p53 and the DNA damage response proteins BRCA1 and BRCA2.
Associated Diseases
Mutations in the FAM83A gene have been linked to several human diseases, including:
- Breast cancer: FAM83A mutations have been identified in approximately 5-10% of breast cancer cases, particularly in those with triple-negative breast cancer (TNBC).
- Ovarian cancer: FAM83A mutations are present in around 10-15% of ovarian cancer cases, especially in the high-grade serous subtype.
- Prostate cancer: Mutations in FAM83A have been associated with an increased risk of prostate cancer, particularly in men of African descent.
- Pancreatic cancer: FAM83A mutations have been implicated in the development and progression of pancreatic cancer.
Did you Know ?
- A study published in the journal "Nature Genetics" found that women with mutations in both FAM83A and BRCA1 or BRCA2 have a significantly higher risk of developing breast or ovarian cancer compared to women with mutations in only one of these genes.
