Five important facts about genetic testing and ovarian cancer diagnosis and treatment

1. Genetic testing is important after an ovarian cancer diagnosis.

People tend to think of genetic testing as determining their risk for specific cancers. However, with emerging science, the question is no longer solely, did the person inherit the mutation, but rather, is there a mutation in the tumor? Approximately 10 to 15 percent of women with ovarian cancer have an inherited BRCA mutation (called germline).¹ In other cases, there may be a BRCA mutation which is not inherited but is present only in their tumor (called somatic).²

Genetic testing can determine whether a woman with ovarian cancer carries germline (inherited) and/or somatic (acquired, located only in the tumor) BRCA gene mutations — BRCA1 or BRCA2 — as well as several other mutations unrelated to BRCA.³ There are two types of genetic tests that can be given and are used to identify different mutations.^3,4

A blood or saliva test uses DNA to identify inherited BRCA mutations.⁵

Tumor testing, using a sample of tissue to determine the presence of genetic mutations, can be done as early as diagnosis and is a powerful tool that indicates whether there are BRCA mutations in the tumor itself.^3,4

BRCA mutation testing, whether blood, saliva or tumor testing, may also show whether a tumor has certain features that may make a woman’s cancer more likely to respond to specific treatments, including targeted therapies.⁶ Genetic testing is important because BRCA mutation status can help physicians make informed treatment decisions.^5,6

2. Genetic testing is recommended for all women with ovarian cancer.

Family history is important, but it is not always an indicator of a genetic mutation. An analysis of the contribution of several mutations, including BRCA1 and BRCA2, to ovarian cancer risk in two large case-controlled studies showed that 47% of women with BRCA-mutated ovarian cancer have no family history of relevant cancers.⁷

Today, BRCA mutation testing is recommended for all women with ovarian, fallopian tube and primary peritoneal cancer regardless of age or family history.^8,9 This recommendation has been endorsed by organizations such as the American Society of Clinical Oncology, Society of Gynecologic Oncology, National Society of Genetic Counselors, and the American Congress of Obstetrics and Gynecology.

3. Genetic testing can impact treatment decisions.

Genetic test results obtained at diagnosis can directly impact treatment decisions because some of these treatments work differently depending on a patient’s BRCA mutation status.^5,10 For example:

• • Women with BRCA mutations tend to be more sensitive to certain types of chemotherapies called platinum-based chemotherapies¹¹
  • An existing BRCA mutation can determine eligibility for targeted therapies⁶

4. Those who were tested more than 10 years ago may want to re-test.

Ovarian cancer survivors who had a negative genetic test more than 10 years ago should speak with a genetic counselor or their doctor to see if additional testing is right for them. Advancements in genetic testing allow current tests to find mutations that could have been previously missed by older tests.¹²

5. BRCA genes can be carried in men, too.

Having a BRCA 1 and/or 2 mutation may increase a man’s risk for developing prostate, pancreatic, and breast cancers as well as melanoma.¹³ Men who carry these mutations can pass them onto their sons and daughters at the same rate that mothers do — a 50/50 chance — so it’s important that men with certain risk factors, such as family history of BRCA mutations or breast or prostate cancers, consider receiving BRCA mutation testing.¹³

©2019 AstraZeneca. All rights reserved. 
US-23510 Last Updated 7/19

References

¹American Society of Clinical Oncology. Cancer.net. Ovarian, Fallopian Tube, and Peritoneal Cancers: Risk Factors and Prevention. Available online. Accessed Jan 23, 2019.
²American Cancer Society. Changes in genes. Available online. Accessed Jan 22, 2019.
³Frey MK, Pothuri B. Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature. Gynecol Oncol Res Pract. 2017;4:4. Available online. Accessed March 7, 2019.
⁴Vergote I, Banerjee S, Gerdes AM, et al. Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients. Eur J Cancer. 2016;69:127-134. Available online. Accessed March 7, 2019.
⁵National Cancer Institute. BRCA Mutations: Cancer Risk and Genetic Testing. Available online. Accessed March 7, 2019.
⁶Koczkowska M, Zuk M, Gorczynski A, et al. Detection of somatic BRCA1/2 mutations in ovarian cancer – next-generation sequencing analysis of 100 cases. Cancer Med. 2016;5(7):1640-1646. Available online. Accessed March 14, 2019.
⁷Song H, Cicek MS, Dicks E, et al. The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. Human Molecular Genetics. 2014;23(17):4703–4709. Available online. Accessed June 11, 2019.
⁸Lu KH, Wood ME, Daniels M, et al. American Society of Clinical Oncology Expert Statement: Collection and Use of a Cancer Family History for Oncology Providers. J Clin Oncol. 2014;32(8):833-840. Available online. Accessed March 14, 2019.
⁹Society of Gynecologic Oncology. SGO Clinical Practice Statement: Genetic Testing for Ovarian Cancer. 2014. Available online. Accessed March 8, 2019.
¹⁰Farmer H, McCabe N, Lord CJ, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005;434:917-921. Available online. Accessed March 14, 2019.
¹¹Pan Z, Xie X. BRCA mutations in the manifestation and treatment of ovarian cancer. Oncotarget. 2017;8(57):97657–97670. Available online. Accessed Jan 23, 2019.
¹²Ruddy KJ, Risendal BC, Garber JE, Partridge AH. Cancer Survivorship Care: An Opportunity to Revisit Cancer Genetics. J Clin Oncol. 2016;34(6):539–541. Available online. Accessed Jan 18, 2019.
¹³Cleveland Clinic. Why Would Men Need Genetic Testing for Breast Cancer Too? Available online. Accessed Nov 19, 2018.