While BRCA2 mutations are often linked together with BRCA1 mutations, there are many important differences.

Understanding the differences in these mutations is important in understanding your family history as well.

Definition

A quick review of genetics can make BRCA mutations easier to understand.

BRCA gene mutation as a cause of cancer

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OurDNAis made up of 46 chromosomes, 23 from our fathers and 23 from our mothers.

Genes are sections of DNA found in chromosomes that code for specific functions.

They are like a blueprint the body uses to make proteins.

Mutations are areas of damaged genes.

There are many different types of BRCA mutations.

The “code” in genes is comprised of a series of letters (known as bases).

Series of these letters tell your body to put different amino acids for make a protein.

Damage (mutations and other genetic changes) occurs in the DNA of our cells every day.

Prevalence

Having a BRCA mutation is relatively uncommon.

BRCA1 mutations are found in roughly 0.2% of the population, or 1 in 500 people.

BRCA1 mutations are more common in those of Ashkenazi Jewish heritage, whereas BRCA2 mutations are more variable.

Who Should Be Tested?

At the current time, it’s not recommended that BRCA2 testing be performed for the general population.

At the current time, however, our knowledge is still growing and this may change in time.

Colonoscopy can be used to detect colon cancer in the earliest stages.

Let’s look at options by cancer jot down.

2015 Aug;13(1):16. doi:10.1186/s13053-015-0038-x

Centers for Disease Control and Prevention.BRCA gene mutations.

American Cancer Society.Breast cancer risk factors you cannot change.

2011 Nov;13(11):765-768. doi:10.1001/virtualmentor.2011.13.11.ccas3-1111

Hawkes N.Cancer survival data emphasise importance of early diagnosis.BMJ.

2019 Jan;364(8185):l408.

2014 Oct;6(1)423-430. doi:10.2147/CMAR.S55219

National Cancer Institute.Surgery to reduce the risk of breast cancer.

National Cancer Institute.Oral contraceptives and cancer risk.

2020 Jul;159(1):358-362. doi:10.1053/j.gastro.2020.03.088

American Society of Clinical Oncology Cancer.net.

34(34):4183-4185.

U.S. National Library of Medicine.

BRCA2 gene.https://ghr.nlm.nih.gov/gene/BRCA2

Warner, E.Screening BRCA1 and BRCA2 Mutation Carriers for Breast Cancer.Cancers.

10(12).pii:E477.