What Is BRCA? — BRCA Resource Guide

BRCA Genes: Your Body's Repair Crew

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BRCA1

BReast CAncer gene 1. Initiates the DNA repair process and acts as a tumor suppressor.

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BRCA2

BReast CAncer gene 2. Stabilizes the enzyme that performs the repair and helps regulate cell division.

Every human carries both genes. When functioning normally, they produce proteins that repair damaged DNA and prevent cells from growing out of control. They work through a process called homologous recombination repair, the body's precise method of fixing double-strand DNA breaks.

In simpler terms: Think of your DNA as a set of instructions your cells follow. Over time, those instructions get damaged. BRCA genes act like proofreaders, catching and correcting errors before they cause harm. Without them, errors accumulate and cells can grow uncontrollably.

What Is a BRCA Mutation?

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Normal BRCA Gene

Produces repair proteins. Catches DNA damage. Suppresses tumor growth. Cell stays healthy.

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Mutated BRCA Gene

Produces short/nonfunctional protein. DNA damage goes unrepaired. Defects accumulate. Cancer risk rises.

Everyone has two copies of each BRCA gene (one from each parent). Having one normal copy is usually enough to protect cells. But if the remaining normal copy is lost or damaged during a person's lifetime, the cell loses its protection entirely.

Important: Having a BRCA mutation does not guarantee cancer. It significantly increases the risk, but other genetic, environmental, and lifestyle factors also play a role.

How Is It Inherited?

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Either Parent

Fathers and mothers pass it on equally. Men carry and transmit it at the same rate as women.

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One Copy Is Enough

Only one mutated copy (from either parent) is needed. This is called "autosomal dominant."

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Can't Skip Generations

If your parents don't carry it, you don't have it. No hidden surprises from grandparents.

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In Every Cell

The mutation exists in all cells from birth, which is why a simple blood or saliva test can detect it.

Who Carries BRCA Mutations at Higher Rates?

1 in 400

General population prevalence

1 in 40

Ashkenazi Jewish prevalence (~10x higher)

Populations with Founder Mutations

Population	Prevalence	Notes
Ashkenazi Jewish	~2.5% (1 in 40)	3 specific founder mutations account for ~90% of cases
Norwegian, Dutch, Icelandic	Elevated	Distinct founder mutations in each population
Hispanic / Latino	Elevated	Including Mexican and other Latin American founder mutations
West African / African American	Elevated	Unique mutations not found in other U.S. racial/ethnic groups
Sephardi Jewish, Bahamian	Elevated	Population-specific founder mutations

Are There Symptoms?

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No. There are no symptoms of carrying a BRCA mutation. It is a genetic predisposition, not a disease. The only way to know is through genetic testing.

This is exactly why awareness and access to testing matter: by the time cancer symptoms appear, the disease has already developed. Knowing your status in advance allows for proactive screening and prevention.