Mar 24, 2015 7:00 AM

Authors: Saundra Buys, MD , Wendy Kohlmann MS, CGC , Theresa Werner, MD


This morning in a New York Times op-ed piece, Angelina Jolie shared her experience undergoing a laparoscopic bilateral salpingo-oophorectomy due to her high genetic risk for ovarian cancer.

Mutations in two genes, BRCA1 and BRCA2, are the biggest cause of hereditary breast and ovarian cancer; through genetic testing, Jolie was found to have a mutation in the BRCA1 gene. These mutations are rare in the general population, however Jolie’s family history was a significant clue that she was at high risk for having a BRCA1 or BRCA2 mutation – her mother had both breast and ovarian cancer and her maternal grandmother had ovarian cancer, all diagnosed at younger-than-average ages. While having a BRCA1 or BRCA2 mutation confers a high lifetime risk for developing certain cancers, individuals with these mutations have many options to address their cancer risks.

The University of Utah has a unique history related to the BRCA1 and BRCA2 genes. In the early 1990’s, researchers at the University helped to identify the genes after studying numerous Utah families with high incidences of breast and ovarian cancer. This work would later become the Utah Genome Project (UGP).

A large-scale initiative to advance the development of better disease prevention, the UGP seeks diagnosis and treatment methods through discovery of new genetic signatures for human disease and response to drug therapies, using genome sequence analysis. Unlike genome initiatives that study unrelated groups of people, the UGP investigates genetic signatures of disease and drug response in large families. Because of this project, testing for mutations in the BRCA1 and BRCA2 genes is now clinically available and patients can take action to address their cancer risks proactively.

The National Comprehensive Cancer Network (NCCN), American College of Medical Genetics and Genomics (ACMG), and other organizations have created consensus recommendations for how individuals with BRCA1 and BRCA2 mutations can address their risks. Mutations in these genes are associated with a 50-85% lifetime risk for breast cancer and a 20-60% risk for ovarian cancer. To address breast cancer risk, NCCN guidelines recommend women pursue either screening and/or risk reduction. Screening consists of annual mammogram and breast MRI (staggered six months apart each year) and clinical breast exams twice a year starting at age 25. BRCA1 and BRCA2 are two of only a few thousand clinically actionable genetic tests currently recommended by ACMG.

Alternatively, prophylactic mastectomy can be pursued to reduce breast cancer risk as much as possible (though never removing the risk entirely). As reliable ovarian cancer screening methods have not yet been identified, prophylactic oophorectomy is recommended between ages 35-40 to reduce ovarian cancer risk. Removing the ovaries prior to age 50 also has the benefit of lowering breast cancer risk by approximately half. In some cases, use of certain medications can also help reduce cancer risk. When a woman initially finds out she has a BRCA1 or BRCA2 mutation, she may feel overwhelmed by the options and decisions she is facing regarding cancer screening and risk reduction. Speaking to clinicians knowledgeable about hereditary cancer risks is vital in helping patients make fully informed decisions.

The University of Utah’s Huntsman Cancer Institute (HCI) provides hereditary cancer risk assessments with genetic counselors and physicians in the Family Cancer Assessment Clinic. Based on the patient’s personal and/or family history of cancer, counselors help assess whether or not genetic testing could be helpful, order and interpret genetic tests, and help form a cancer screening and risk reduction plan appropriate for the patient and their family.

Patients seen in the high risk clinics at HCI usually have experienced firsthand what it’s like for a family member to go through cancer treatment which provides a unique opportunity to counsel these patients about their risk of getting cancer, and ways to increase screening or prevent cancer altogether.

Screening options include clinical breast exams, mammograms, breast MRIs (for breast cancer), transvaginal ultrasound and tumor marker blood draws (for ovarian cancer), as well as prophylactic surgical options including mastectomy for breast cancer and oophorectomy for ovarian cancer prevention.

Screening and treatment options are a very personal decision for each individual patient. While some elect mastectomy, others prefer intense screening instead. A physician’s job is to counsel that individual patient on their options and then support them with their decision. Providing patients with the data and their individual options takes a lot of the fear and unknown out of the equation.

Patients concerned about their risk for any type of cancer, not only breast and ovarian, can be seen in the Family Cancer Assessment Clinic. Interested patients and family members can call the clinic at 801-587-9555 to learn more about their services.

breast cancer genetics ovarian cancer

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