BRCA2
BRCA2 DNA Repair Associated
Gene Number: 675
Location: 13q13.1
Key Functions: DNA repair via homologous recombination, tumor suppression, genomic stability maintenance
BRCA2 helps repair breaks in DNA and maintain the stability of our genetic material. It works with other repair proteins to protect cells from accumulating damage [R].
This report examines rs11571833 (K3326X) and rs144848 (N372H). K3326X has been linked to modest increases in several cancer risks, while N372H is a common variant classified as benign. Neither is classified as a high-risk pathogenic BRCA2 variant responsible for hereditary breast and ovarian cancer [R, R].
This report checks two selected variants, not the entire BRCA2 gene, and cannot rule out hereditary cancer risk.
SNP ID | Your Genotype | Alt Allele | Interpretation |
|---|---|---|---|
rs11571833 | Analyze your DNA to see your genotype | T | Analyze your DNA to see a personalized result. |
rs144848 | Analyze your DNA to see your genotype | C | Analyze your DNA to see a personalized result. |
rs11571833 — K3326X
AA – Reference genotype. No copies of K3326X at this position. (R).
AT – One K3326X copy. This variant has been linked to modestly increased cancer odds in population studies. It is classified as benign for hereditary BRCA2 cancer predisposition (R).
TT – Two K3326X copies. This genotype is rare, and a reliable cancer-risk estimate is unavailable. It should not be assigned twice the carrier effect (R).
Research findings: A large study reported approximately 28% higher breast-cancer odds and 26% higher invasive ovarian-cancer odds among T carriers. A separate analysis reported approximately 45% higher urinary-tract cancer odds, including 60% higher bladder-cancer odds (R, R). These estimates compare carriers with non-carriers.
Functional effect: K3326X introduces a stop signal near the end of BRCA2, shortening the protein. Despite this change, expert review classifies it as benign for hereditary BRCA2 cancer predisposition. Modest population-level risk associations are different from the substantial risks caused by high-risk pathogenic BRCA2 variants (Expert classification).
rs144848 — N372H
AA – Reference genotype. Two copies encoding asparagine at protein position 372.
AC – One N372H copy. One copy encoding histidine at position 372 (R).
CC – Two N372H copies. Both copies encode histidine at position 372 (R).
Functional effect: N372H changes one amino acid in BRCA2. Current expert classification does not support describing it as a pathogenic impairment of DNA repair (Expert classification)
Family history matters: A strong personal or family history of breast, ovarian, pancreatic or prostate cancer warrants discussion with a clinician or genetic counselor, regardless of these two results.
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