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         Recent advances in gene technology have allowed Providers to practice truly personalized medicine and tailor patient care based on individual risk. For example, most cancers occur in people who do not have a strong family history. This is called "sporadic".  However, in some families, we see more of the same kind or related kinds of cancer.  This is called "Familial" or "Hereditary Cancer". In Hereditary Cancer, the risk is passed down through generations by inheriting altered genes, or genes with mutations.  These altered genes increase the risk of developing certain cancers at a higher frequency than the general population. More genes are being discovered that are imparting risks for other cancers. In recognition of October being Breast Cancer Awareness Month, I am going to focus this article on Breast Cancer and the genetic mutations implicated in the development of Breast Cancer.  We are now able to test for these gene mutations and counsel patients appropriately.

     Hereditary Breast and Ovarian Cancer (HBOC) is an inherited condition that can increase the risk for the development of ovarian, breast, pancreatic and prostate cancer.  The majority of hereditary breast and ovarian cancer is due to an alteration in the BRCA1 or BRCA2 genes.  These can be inherited from either your mother or your father. 

You may have an inherited risk if you or a family member have

  • Ovarian, peritoneal, or fallopian tube cancer at any age
  • Breast cancer diagnosed before the age of 50
  • Two or more primary breast cancers
  • Male breast cancer at any age
  • Triple negative breast cancer (the cancer has negative receptors for Estrogen, Progesterone and HER2)
  • Ashkenazi Jewish ancestry
  • Three or more HBOC associated cancers in relatives at any age
  • A previously identified HBOC gene mutation in the family

    In the general population, it is estimated that approximately 1 in 300 to 1 in 800 individuals carry the BRCA1 or BRCA2 mutation, but in certain populations such as Ashkenazi Jews, French Canadians, and Icelanders, the frequency has found to be as high as 1 in 40.  The estimated risk of developing breast cancer if you carry the BRCA 1 gene is 57% and 49% for BRCA2 carriers by the age of 70 years.  The risk for developing ovarian cancer by the age of 70 is 39-46% for those carrying BRCA1 and 10-27% for those carrying BRCA2. Lynch Syndrome is found less frequently and may include a combination of ovarian, endometrial, colon and other gastrointestinal cancers.

   Your family history will guide your Provider to the proper genetic testing for you. Genetic testing should be offered to anyone with a known or suspected familial genetic mutation. The possible outcomes of any genetic testing should be discussed as part of the pretest counseling. The pretest counseling considers psychologic, physical, reproductive, and familial implications.

For any individual at risk, there should be increased surveillance:

  • Breast awareness starting at age 18
  • Clinical breast exams start at age 25 every 6 months
  • Annual breast MRI and/or mammogram start at age 25-30
  • Consider transvaginal Ultrasound starting at age 30-35 determined by your Clinician

Many women who have the BRCA1 or BRCA2 mutation chose to have risk reduction mastectomies and salpingo-oophorectomies after they have completed their childbearing to reduce their risk of developing cancer by 90%. Chemoprevention in the form of Tamoxifen has been shown to reduce the risk of a second primary cancer by 53%. Oral contraceptives have been shown to reduce the risk of ovarian cancer by 60% if taken for 6 or more years.

If you have family members who have been affected by cancer, gather as much information as you can about the kind of cancer they have or had and have a discussion with your Provider at the Richland Medical Center. Remember, you can inherit a gene mutation from either your mother or your father, so it is important to look at both sides of the family. Significant reductions in morbidity and mortality can be achieved through opportunities for early screening, prophylactic surgeries, and in in vitro fertilization with preimplantation genetics to eliminate the passing of the gene mutation to future generations.

By: Dr. Janice Alexander