Question 1

What is the Meaning of BRCA2 Mutation?

Accepted Answer

A BRCA2 Mutation refers to a deleterious, pathogenic change in the BReast CAncer gene 2, which is a critical tumor suppressor gene located on chromosome 13. Inheriting a harmful variant in this gene significantly increases an individual's lifetime risk of developing several hormone-related and other cancers, most notably breast, ovarian, and prostate cancer. This genetic predisposition highlights a fundamental breakdown in the cellular machinery responsible for maintaining genomic integrity.

Question 2

What is the Origin of BRCA2 Mutation?

Accepted Answer

The name BRCA2 is an abbreviation reflecting its discovery as the second major gene linked to hereditary breast cancer susceptibility in the mid-1990s, following the identification of BRCA1. These genes are foundational components of the hereditary breast and ovarian cancer syndrome, which is inherited in an autosomal dominant pattern. Understanding this genetic origin is essential for clinical risk assessment and preventative strategies in high-risk families.

Question 3

What is the Mechanism of BRCA2 Mutation?

Accepted Answer

The normal BRCA2 protein functions as a crucial component in the cell's double-strand DNA break repair mechanism, specifically through homologous recombination. A mutation, such as a frameshift or nonsense variant, typically results in a truncated, non-functional protein that cannot perform this critical DNA repair task effectively. This impaired repair leads to an accumulation of genetic damage and chromosomal instability, driving the uncontrolled cell proliferation that ultimately characterizes malignancy.

BRCA2 Mutation

Meaning

Origin

Mechanism

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