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BRCA Gene Mutation

 

What is BRCA?

Everyone has BRCA genes-Typically BRCA genes make proteins that help fix damaged DNA and prevent tumors from growing. If someone has a BRCA mutation, the protein cannot function as they should. If the DNA is damaged it is unable to be repaired properly. This results in cells that can grow to form a tumor. 

Having a BRCA mutation does not mean that you WILL get cancer, but it does increase your risk for getting certain cancers. 

BRCA 1 

BRCA 1 is a gene that produces a protein called breast cancer type 1 susceptibility protein, which helps to suppress the growth of tumors and repair damaged DNA. Mutations in the BRCA1 gene can increase the risk of developing certain types of cancer, particularly breast (in men and women), prostate cancer, pancreatic cancer, colon cancer, and ovarian cancer. 

Origin of BRCA 1

These mutations can be inherited from a parent and are more common in certain populations, such as those of Ashkenazi Jewish descent. Founder mutations have also been seen worldwide in populations from the Netherlands, Sweden, Hungary, Iceland, Italy, France, South Africa, Pakistan, Asia, French Canadians, Latinx, and African Americans. Individuals with a BRCA1 mutation have a significantly higher lifetime risk of developing breast and ovarian cancer compared to those without the mutation. 

How Do I Determine if I Have the BRCA 1 Gene?

 Genetic testing can be done to determine if a person carries a BRCA 1 mutation, and individuals who test positive for a mutation may choose to take proactive measures such as increased cancer screening or preventive surgery to reduce their cancer risk. 
 

BRCA 2 

BRCA 2 is a gene that produces a protein that works as tumor suppressor. This tumor suppressor protein can aid in stopping cells from growing and dividing uncontrollably. Mutations in BRCA 2 can increase the risk of developing certain types of cancer, particularly breast, ovarian, prostate, pancreatic, and some forms of skin cancer.

Origin of BRCA 2

These mutations can be inherited from a parent and are more common in certain populations, such as those of Ashkenazi Jewish descent. Founder mutations have also been seen worldwide in populations from the Netherlands, Sweden, Hungary, Iceland, Italy, France, South Africa, Pakistan, Asia, French Canadians, Latinx, and African Americans.  Individuals with a BRCA2 mutation have a significantly higher lifetime risk of developing breast and ovarian cancer compared to those without the mutation. 

How Do I Determine if I Have the BRCA 2 Gene?

Genetic testing can be done to determine if a person carries a BRCA 2 mutation, and individuals who test positive for a mutation may choose to take proactive measures such as increased cancer screening or preventive surgery to reduce their cancer risk.