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BRCA Genetic Testing

Dr. Santillan uses Myriad myRisk hereditary cancer panel which represents the next generation of hereditary cancer risk testing, blending both genetic status AND personal cancer family history. Myriad myRisk identifies elevated risk for breast cancer by analyzing multiple, clinically significant genes.

There are two BRCA (BReast CAncer) genes: BRCA 1 and BRCA 2.

  • These BRCA genes keep breast, ovarian and other cells growing normally.
  • Everyone has BRCA 1 and BRCA 2 genes.
  • Some women have abnormal or mutated BRCA genes. A mutated BRCA gene will not regulate cell growth normally. As a result, women with a BRCA gene mutation have a higher risk of developing breast or ovarian cancer than women who do not have a mutation. In fact, according to the National Cancer Institute, 55% – 65% of women who inherit a BRCA 1 mutation and 45% of women who inherit a BRCA 2 mutation will develop breast cancer by the time they are 70 years old.

Women in the U.S. General Population

About 7 out of 100 women in the U.S. general population will get breast cancer by age 70.

Women with a BRCA1 or BRCA2 Mutation

About 50 out of 100 women with a BRCA1 or BRCA2 mutation will get breast cancer by age 70.


Family History of Breast Cancer

A woman with a BRCA gene mutation will have inherited the mutated gene from her mother or her father. Likewise, she may also pass the BRCA gene mutation down to her children. This is why many women talk about having a family history of breast cancer or hereditary breast cancer.

 It is important to know that just because you have a BRCA gene mutation, it does not mean you will pass the mutation down to your children. Additionally, just because your mother or father have a BRCA gene mutation, it does not mean that you have inherited the mutation.

Other Genes Associated with Breast Cancer

There are several other genes that have been linked to breast cancer.

  • ATM: The ATM gene repairs damaged DNA. A mutated ATM gene cannot repair these damages, and has been linked to an increased risk of breast and pancreatic cancer.
  • BRIP1: The BRIP1 gene repairs damaged DNA. A mutated BRIP1 gene cannot repair these damages, and has been linked to an increased risk of breast and ovarian cancer
  • CDH1: The CDH1 gene binds cells together to form tissue. A mutated CDH1 gene has been linked to an increased risk of breast cancer
  • CHEK2: The CHEK2 gene regulates tumor growth. A mutated CHEK2 gene cannot control tumor growth, has been linked to an increase risk of breast, colon, and prostate cancer.
  • MRE11A, RAD50, and NBN: The MRE11, NBN, and RAD50 genes form the MRN complex that repairs damaged DNA. Mutations in these genes have been liked to an increased risk of breast and pancreatic cancer.
  • PALB2: The PALB2 gene works with the BRCA 2 gene to repair DNA and regulate tumor growth. A mutated PALB2 gene has been linked to an increase risk of breast cancer.
  • PTEN: The PTEN gene regulates cell growth. A mutated PTEN gene has been linked to an increased risk of benign and cancerous breast tumors
  • RAD51C: The RAD51C gene repairs damaged DNA. A mutated RAD51C gene cannot repair these damages, and has been linked to an increased risk of breast and ovarian cancer
  • STK11: The STK11 gene regulates cell growth. A mutated STK11 gene has been linked to an increased risk of gastrointestinal, breast, lunch, and ovarian tumors.
  • TP53: The TP53 gene regulates tumor growth. A mutated TP53 gene cannot control tumor growth, has been linked to an increased risk of soft tissue cancers

While these genes have all been linked to breast cancer, the most commonly discussed genetic mutations are the BRCA genes.

 

How do I know if I have a gene mutation?

BRCA gene testing can be done to determine if you have a mutation in your BRCA 1 or BRCA 2 genes. Dr. Santillan uses Myriad myRisk hereditary cancer panel which represents the next generation of hereditary cancer risk testing, blending both genetic status AND personal cancer family history.  Myriad myRisk identifies elevated risk for breast cancer by analyzing multiple, clinically significant genes, including all the genes described above. 



Hereditary Cancer Risk and Breast Surgery:

A BRCA gene mutation means that you have a higher risk of developing breast cancer and/or ovarian cancer than someone who doesn’t have a BRCA gene mutation. It does not guarantee that you will get cancer. As a result, some women choose to do nothing. Some women choose hormonal therapy. And some women choose to have surgery to remove the breast tissue or ovaries, or ovaries and fallopian tubes that are at risk of developing cancer.

  • Risk-reducing mastectomy for my healthy breast (contralateral Prophylactic Mastectomy)

If you have a positive cancer diagnosis in one breast and you have a BRCA gene mutation, you may choose to have a risk-reducing mastectomy on your healthy breast to potentially reduce your risk of developing cancer in your healthy breast. You may also opt for breast reconstruction.

  • Risk-reducing oophorectomy (prophylactic ovary removal)

In a risk-reducing oophorectomy, the ovaries that are at risk for developing cancer are removed.

  • Risk-reducing salpingo-oophrectomy (prophylactic ovary and fallopian tube removal)

In a risk-reducing salpingo-oophorectomy, the ovaries and the fallopian tubes that are at risk for developing cancer are removed.

Patient Story: BRCA Gene & Hidden Scar Breast Cancer Surgery