What you carry at this position in your DNA and what research says about it.
Somatic Cancer Gene: 5/10 evidence, 2 publications.
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Sample genotype (not yours): A/A
Typical Inherited BRAF Sequence
Your inherited copies of BRAF do not carry the V600E change. V600E is a somatic driver - it arises in tumour tissue rather than being passed down - so an inherited result here is not a measure of cancer risk in either direction. Tumour BRAF status is established by testing the tumour itself.
What this genotype means: Typical cell growth regulation; Standard cancer risk baseline.
Sample genotype (not yours): A/T
Inherited BRAF V600E Reported
A V600E change is reported on one inherited copy of BRAF. V600E is a somatic driver found in tumour tissue; an inherited V600E is not an established finding and on array data is more likely a genotyping artifact. It warrants clinical-grade confirmation and does not by itself indicate inherited cancer risk.
What this genotype means: Uncontrolled cellular signaling; Reduced chemotherapy survival.
Sample genotype (not yours): T/T
A V600E change is reported on both inherited copies of BRAF. V600E is a somatic driver; an inherited result of this kind is not an established finding and on array data is far more likely a genotyping artifact. It warrants clinical-grade confirmation and does not by itself indicate inherited cancer risk.
What this genotype means: Severe pathway hyperactivation; Aggressive tumor progression.
Gene function and biological role
Gene Function: The BRAF gene encodes a serine/threonine protein kinase that plays a critical role in the MAP kinase/ERK signaling pathway [1]. This pathway is essential for regulating cell division, differentiation, and survival by transmitting signals from the cell surface to the nucleus [1]. Under normal conditions, the BRAF protein acts as a tightly regulated switch, turning on to promote growth and off when signaling is complete [1]. When mutated, the protein can become constitutively active, leading to uncontrolled cell proliferation and tumor development [1].
Variant Impact: This variant, commonly known as the BRAF V600E mutation, involves a thymine-to-adenine nucleotide substitution that changes the amino acid at position 600 from valine to glutamate [1]. The introduction of the negatively charged glutamate residue mimics phosphorylation, keeping the BRAF kinase domain permanently active [1]. This somatic mutation is a well-known driver in several cancers, including melanoma, colorectal cancer, and thyroid carcinoma [1]. In clinical oncology, identifying this specific mutation is crucial because it serves as a target for specialized inhibitor therapies [1].
Key Insight: The V600E mutation acts as a broken molecular switch that is stuck in the on position, sending non-stop growth signals. While highly dangerous in tumors, this mutation is also frequently found in completely benign, common skin moles.
Location: BRAF. Chromosome 7 · 7q34 · 140.8 Mb
Estimated prevalence by population
No frequency data available
This variant is not present in the gnomAD database.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Standard cellular signaling is maintained because both alleles encode the normal valine residue at position 600 of the BRAF protein [1]. Without the hyperactivating V600E mutation, cells regulate division and growth through normal physiological pathways [1]. There is no elevated genetic risk for melanoma or colorectal cancer associated with this specific locus [1]. Additionally, standard chemotherapy regimens like FOLFIRI or FOLFOX show typical survival outcomes in patients with this baseline profile [1]. Regular skin checks and standard sun protection remain the primary recommendations for maintaining skin health.
Typical cell growth regulation; Standard cancer risk baseline.
Sample genotype: AT (Heterozygous)
Presence of the T allele leads to the production of an abnormally active BRAF protein that continuously stimulates cell division [1]. Although most commonly arising as a non-inherited somatic mutation within specific tumor tissues, its presence is a major driver of melanoma and colorectal cancers [1]. In patients undergoing chemotherapy for advanced colorectal cancer, this mutation is associated with significantly decreased survival times [1]. Targeted therapies, such as BRAF inhibitors, are often utilized in clinical settings to specifically block this overactive protein [1]. Close clinical monitoring and specialized oncology care are standard when this mutation is detected in tissue samples.
Uncontrolled cellular signaling; Reduced chemotherapy survival.
Sample genotype: TT (Homozygous)
Homozygosity for the T allele means all produced BRAF protein carries the hyperactivating glutamate substitution [1]. This state causes maximum constitutive activation of the MAPK pathway, driving rapid and uncontrolled cell proliferation [1]. In clinical oncology, tumors harboring this profile exhibit highly aggressive behavior and a significantly reduced response to standard chemotherapy regimens [1]. Patients with this genetic signature typically require aggressive, multi-targeted therapeutic strategies to bypass the hyperactive signaling cascade [1]. Genetic counseling and specialized oncology consultations are highly relevant for managing the implications of this profile.
Severe pathway hyperactivation; Aggressive tumor progression.
Variants with shared genetic architecture
rs121913355 · BRAF Gene · Chr 7 · CFC Syndrome Risk
rs180177035 · BRAF Gene · Chr 7 · CFC Syndrome Risk
rs10411210 · RHPN2 Gene · Chr 19 · Colorectal Cancer Risk
Content updated August 2026.
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