How to detect breast cancer and when to get tested for breast cancer?

How to detect breast cancer and when to get tested for breast cancer? 

Breast cancer is the most common cancer in women after skin cancer and up to 15% of people with breast cancer have a genetic or inherited cause for the disease.

How to detect breast cancer and when to get tested for breast cancer?


The term “breast cancer genes’ means genes that, when mutated (altered) increase the risk of getting breast cancer. These genes mutations block some of your natural fighting genes. So, when you don’t have your full army of genes defending cancer, your risk of getting certain cancers increases.

BRCA1 and BRCA2 are the most common breast cancer genes when mutated followed closely by Phosphatase and tensin homolog (PTEN ) mutations. Mutations of this gene are a step in the development of many cancers, specifically breast cancer, lung cancer, and prostate cancer.
Researcher Dr. Charis Eng (MD, PhD) explains there are several other breast cancer genes mutations which exist. There are at least 14 different genes which exist right now and other genes are currently being analysed too. These genes mutations are not confined to breast cancer risk only but some of these genes mutations may also increase the risk of several other cancer such as:

  • Colorectal cancer
  • Endometrial/ uterine cancer
  • Melanoma
  • Metastatic prostate cancer
  • Ovarian cancer
  • Pancreatic cancer
  • Thyroid cancer


Breast cancer gene mutations are not common in the general population but they are common in people who have breast cancer. It is seen that about 10% to 15% of people with breast cancer have one of the breast cancer mutations. These genes mutations can be inherited by either of the biological parents and also the cancer they are associated with can affect both men and women.


The only way to know whether any person has a breast cancer gene is through ‘Genetic testing’. These blood tests check for BRCA1 and BRCA2, as well other known breast cancer genes.

If you have already been diagnosed with breast cancer then you may need genetic testing if you:

  • Are of Ashkenazi Jewish descent
  • Were biologically male.
  • Have a family history of breast cancer, especially if the relatives were male or under age 45 when they are diagnosed.
  • Have a family history of ovarian, pancreatic or prostate cancer etc.
  • Have a second breast cancer but not the recurrence of first cancer.
  • Have a triple- negative breast cancer that was diagnosed before you were 60.
  • Were diagnosed with breast cancer at age 45 or younger.   

If you haven’t been diagnosed with breast cancer consider genetic testing if you have:

  • Were born biologically male and have been diagnosed with pancreatic cancer or high grade metastatic prostate cancer.
  • Have a male relative with breast cancer or a female relative with cancer in both breasts.
  • Have more than one family member with breast cancer or having family members who were diagnosed with breast cancer before the age of 45.
  • Last but not the least, have a known family history of BRCA or other gene mutations.

The first thing is one should consult a doctor and then if the doctor finds out that you’re at the risk of hereditary breast cancer they will refer you to a genetic professional such as a genetic counsellor for pre and post – test genetic counselling. After that your blood is drawn and sent to a clinical lab for testing and genetic analysis. A geneticist (genetics expert) reads your blood test results and then follows up with your provider. If you have a positive result then you’ll have to meet with your genetic counsellor to discuss next steps for your care.


Having a positive genetic test result does not mean that you’ll get cancer but it means that you’re at a greater or higher risk of getting breast cancer than people without the mutation.
You need to consider these statistics:

  • Women without breast cancer gene mutations have a 12% lifetime risk of breast cancer.
  • Women with a BRCA mutation have up to an 80% lifetime risk of getting breast cancer.
  • Women with PTEN mutation have an 85% lifetime risk.
  • Men with the BRCA2 mutations have about an 8% lifetime risk, 80 times greater than males without the mutation.


If a person gets a positive result it may be difficult to deal and cope with it but one should not panic and use this information to their advantage by immediately starting with the treatment. Once the doctor finds out that you have a breast cancer gene alteration they will take the extra steps and try to catch the cancer early when it’s most treatable. The doctors will also perform enhanced screening tests starting at an early age that is usually 25 or 30, depending on the gene.

And in some cases, if a person get tested and get a negative result one should not skip mammograms or other health screenings and do follow the American Cancer Society’s guidelines because a negative result means you may not have known gene mutations for breast cancer, but you can still get breast cancer.
In conclusion, most cases of breast cancer aren’t hereditary so “knowing your family history is important because it tells us who needs to be tested or if you need to be tested.”


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