Ovarian cancer is the fifth leading cause of cancer deaths among females; however, ovarian cancer cases are not nearly as common compared to lung, breast, colon, and prostate cancer.  The American Cancer Society estimates there will be about 20,000 new cases and 13,000 deaths due to ovarian cancer in 2023 in the United States. About half of those diagnosed with ovarian cancer are at least 63 years old. Ovarian cancer is the most lethal gynecological malignancy because it is commonly diagnosed after the cancer has progressed. Fortunately, ovarian cancer mortality has slowly but steadily decreased since the early 2000s, which demonstrates a lower incidence and improved treatment over the last 20 years.

There are many risk factors for ovarian cancer, including age (greater than 55); obesity; delayed pregnancy or being childfree; post-menopausal hormone replacement therapy treatment; a family history of breast, ovarian, or colon cancer; and having a family history of a hereditary cancer syndrome. While some of these risk factors can be influenced by someone’s health and medical choices, many are beyond anyone’s control. Knowing if someone is high risk or average risk for ovarian cancer can influence screening and preventive options.

Unfortunately, there is not a reliable method to screen for ovarian cancer according to the American College of Obstetricians and Gynecologists (ACOG) and the U.S. Preventive Services Task Force (USPSTF). Healthcare providers may evaluate a patient for ovarian cancer if they have symptoms including atypical vaginal bleeding; pelvic, abdominal, or back pain; bloating; or change in urinating habits. It may be challenging for healthcare providers to know when to assess someone for ovarian cancer since these symptoms may overlap with other health issues and people with ovarian cancer may have no symptoms at all.

About 75% of ovarian cancer is sporadic and about 25% is hereditary. Sporadic ovarian cancer is caused by non-genetic factors. Hereditary ovarian cancer is caused by variants in genes that are passed from one generation to another. They typically show a pattern of autosomal dominant inheritance, meaning only one variant inherited from a relative is needed to increase the risk for ovarian cancer. Variants in the BRCA1 and BRCA2 genes are the most common cause of hereditary ovarian cancer cases. Even though these genes get a lot of attention, there are variants in other genes such as BRIP1, CHEK2, and PALB2, among others, that may also increase the risk for ovarian cancer.

Furthermore, there are hereditary cancer syndromes that may cause ovarian cancer, along with other cancers and symptoms. A syndrome is a constellation of symptoms due to a specific condition or cause. Different syndromes that include increased ovarian cancer risk are hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2), Lynch Syndrome (MLH1, MSH2, MSH6), and Li-Fraumeni Syndrome (TP53). Variants in certain genes are diagnostic of a hereditary cancer syndrome, while variants in other genes increase the risk for ovarian cancer without being categorized as syndromic.

Genetic testing for ovarian cancer risk is available at multiple labs. Most labs test several genes simultaneously, which are also known as gene panels. Hereditary genetic testing for ovarian cancer (and other types of cancer) can have 3 possible results:

  1. Negative – no pathogenic variants identified.
  2. Positive – a known pathogenic variant is identified, which increases the risk for cancer. Healthcare providers may make management decisions based on the positive result.
  3. Variant of Uncertain Significance (VUS) – these are genetic changes where there is not conclusive evidence in the literature if the risk for ovarian cancer is increased. Unfortunately, a VUS may cause stress and anxiety for the patient and family since it is an uncertain result. VUS results should not change medical management. VUS results may be reclassified in the future as we learn more through medical research and published studies.

For individuals who are at an increased risk for ovarian cancer, some may choose surgery to reduce their risk. Bilateral salpingo-oophorectomy is a surgical procedure where the fallopian tubes and ovaries are removed. The literature reports salpingo-oophorectomy can reduce the risk for ovarian cancer by 40-70%. Nevertheless, patient counseling for this risk reducing surgery is critical, given the procedure can cause complex psychological and sexual distress even though cancer risk is reduced.

September is Ovarian Cancer Awareness Month. The purpose of Ovarian Cancer Awareness Month is to raise awareness of ovarian cancer and the need for increased research funding, treatment, and patient support. Multiple groups observe and celebrate this month to have a positive impact including the American Association for Cancer Research, Ovarian Cancer Research Alliance, National Ovarian Cancer Coalition, and other organizations. Together, the combined efforts of healthcare providers, researchers, patients, and advocates can reduce the prevalence and improve screening, surveillance, and treatments for ovarian cancer.

 

References

Alves-Nogueira AC, Melo D, Carona C, Figueiredo-Dias M. The Psychosocial Impact of the Decision to Undergo Risk-Reducing Salpingo-Oophorectomy Surgery in BRCA Mutation Carriers and the Role of Physician-Patient Communication. Curr Oncol. 2023 Feb 17;30(2):2429-2440. PMID: 36826146.

https://pubmed.ncbi.nlm.nih.gov/36826146/

Calvo F, Karras BT, Phillips R, Kimball AM, Wolf F. Diagnoses, syndromes, and diseases: a knowledge representation problem. AMIA Annu Symp Proc. 2003;2003:802. PMID: 14728307.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1480257/

Gelderblom ME, IntHout J, Dagovic L, Hermens RPMG, Piek JMJ, de Hullu JA. The effect of opportunistic salpingectomy for primary prevention of ovarian cancer on ovarian reserve: a systematic review and meta-analysis. Maturitas. 2022 Aug 17;166:21-34. PMID: 36030627.

https://pubmed.ncbi.nlm.nih.gov/36030627/

Ghose A, Bolina A, Mahajan I, Raza SA, Clarke M, Pal A, Sanchez E, Rallis KS, Boussios S. Hereditary Ovarian Cancer: Towards a Cost-Effective Prevention Strategy. Int J Environ Res Public Health. 2022 Sep 23;19(19):12057. PMID: 36231355.

https://pubmed.ncbi.nlm.nih.gov/36231355/

Eccles BK, Copson E, Maishman T, Abraham JE, Eccles DM. Understanding of BRCA VUS genetic results by breast cancer specialists. BMC Cancer. 2015 Nov 25;15:936. PMID: 26608569.

https://pubmed.ncbi.nlm.nih.gov/26608569/

Henderson JT, Webber EM, Sawaya GF. Screening for Ovarian Cancer: An Updated Evidence Review for the U.S. Preventive Services Task Force [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US); 2018 Feb. Report No.: 17-05231-EF-1. PMID: 29648765.

https://pubmed.ncbi.nlm.nih.gov/29648765/

Zhang R, Siu MKY, Ngan HYS, Chan KKL. Molecular Biomarkers for the Early Detection of Ovarian Cancer. Int J Mol Sci. 2022 Oct 10;23(19):12041. PMID: 36233339.

https://pubmed.ncbi.nlm.nih.gov/36233339/

American Cancer Society

https://www.cancer.org/cancer/types/ovarian-cancer/about/key-statistics.html

https://www.cancer.org/cancer/types/ovarian-cancer/causes-risks-prevention/risk-factors.html

American College of Obstetricians and Gynecologists

https://www.acog.org/womens-health/faqs/ovarian-cancer

Centers for Disease Control and Prevention

https://www.cdc.gov/cancer/ovarian/basic_info/symptoms.htm

https://www.cdc.gov/genomics/disease/colorectal_cancer/lynch.htm oar

Fulgent Genetics

https://www.fulgentgenetics.com/

Invitae

https://www.invitae.com/

National Library of Medicine: GeneReviews – Lynch Syndrome

https://www.ncbi.nlm.nih.gov/books/NBK1211/

Prevention Genetics

https://www.preventiongenetics.com/

U.S. Preventive Task Force

https://www.uspreventiveservicestaskforce.org/uspstf/recommendation/ovarian-cancer-screening

World Health Organization

https://www.who.int/news-room/fact-sheets/detail/cancer