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Breast Cancer

Overview

BRCA test

Breast cancer (BRCA) genes include two major susceptibility genes, BRCA1 and BRCA2. Mutations in these genes increase the risk of develping breast cancer in comparison to general population. Inherited BRCA gene mutations are responsible for about 5 to 10 percent of breast cancers and about 15 percent of ovarian cancers.

BRCA gene test should be performed on the individuals who are likely to have an inhertied mutation based on personal or family history of breast cancer. Finding of the mutation in any of these genes may mean increased cancer risk.

Most people considering genetic testing undergo genetic counseling, which can help you understand what the results could mean for your health and help you decide whether genetic testing is right for you.

Genes covered

BRCA1

Gene aliases: BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53

 

BRCA2

Gene aliases: BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11

 

 

Do men also have a risk?

Men with certain inherited BRCA gene mutations are also susceptible to an increased risk of breast cancer.

Who should consider BRCA gene testing?

If you have any of the following, you might be at increased risk of having a BRCA gene mutation — and a candidate for BRCA gene testing;

  • A personal history of breast cancer diagnosed at a young age (premenopausal or < 50 years)
  • A personal history of triple negative breast cancer diagnosed at age 60 or younger
  • A personal history of breast cancer affecting both breasts (bilateral breast cancer)
  • A personal history of both breast and ovarian cancers
  • A personal history of ovarian cancer
  • A personal history of breast cancer and one or more relatives with breast cancer diagnosed at age 50 or younger, one relative with ovarian cancer, or two or more relatives with breast or pancreatic cancer
  • A history of breast cancer at a young age in two or more close relatives, such as your parents, siblings or children
  • A male relative with breast cancer
  • A family member who has both breast and ovarian cancers
  • A family member with bilateral breast cancer
  • A relative with ovarian cancer
  • A relative with a known BRCA1 or BRCA2 mutation
  • Ashkenazi (Eastern European) Jewish ancestry, with a close relative who has breast, ovarian or pancreatic cancer at any age

 

How you prepare

The first step in the BRCA gene testing process is to meet with a genetic counselor. As soon as you consider having any genetic test, meet with a genetic counselor to determine whether it's appropriate for you and to discuss the potential risks, limitations and benefits of undergoing genetic testing.

The genetic counselor takes a detailed family and medical history, assesses your risk of developing cancer, discusses risks and benefits of genetic testing, and outlines your options.

To prepare for your meeting with a genetic counselor:

  • Gather information about your family's medical history, especially that of close relatives.
  • Document your personal medical history, including collecting records from specialists or results of previous genetic testing, if available.
  • Write down questions for the counselor.
  • Consider having a friend or family member accompany you to help ask questions or take notes.

 

Sample required and results

We need 2ml blood sample for DNA isolation that is used for mutation testing. Your test results may be positive, negative or uncertain.

Positive test result

A positive test result means that you have a mutation in one of the breast cancer genes, BRCA1 or BRCA2, and therefore a much higher risk of developing breast cancer or ovarian cancer compared with someone who doesn't have the mutation. But a positive result doesn't mean that you'll ultimately develop cancer.

Follow-up care after a positive test result might include taking specific measures to modify the type and frequency of screening for cancer and to consider procedures and medications designed to reduce your cancer risk. What you choose to do depends on many factors — including your age, medical history, prior treatments, past surgeries and personal preferences.

Negative or uncertain test result

A negative test result means that no BRCA gene mutation was found. However, assessing your cancer risk is still difficult. The test result is considered a "true negative" only if it finds that you don't carry a specific BRCA mutation that's already been identified in a relative. An ambiguous result, also known as a variant of uncertain significance, occurs when the analysis finds a genetic variant that may or may not be associated with an increased risk of cancer. It is helpful to meet with your genetic counselor to understand how to interpret this finding and decide on appropriate follow-up.

GenePrint LifeSciences Pvt. Ltd.

 

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