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Evaluation and Management of an Ovarian Mass in a Patient with a Family History of Ovarian Cancer

Author: Christina Wallace Huff, M.D.

Mentor: Pamela D. Berens, MD
Editor: Sireesha Reddy, MD

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Increasing age is the most important risk factor for ovarian cancer in the general population. However, a family history of breast or ovarian cancer is the most important personal risk factor.

Family history, including hereditary cancer risk assessment, should be completed for all patients. Increased risk of hereditary cancer syndromes include a first or second-degree relative with breast, ovarian, peritoneal, or fallopian tube cancer, personal history of cancer, cancers diagnosed at a young age, multiple cancers in one individual, and multiple family members with the same cancer. The occurrence of certain types of cancer confers increased risk. Examples include triple-negative breast cancer and lack of ERBB2, colorectal, or endometrial cancer with DNA mismatch repair deficiency. Certain ethnic groups, including Ashkenazi Jews, French Canadians, and Icelanders, have higher rates of BRCA mutations. The lifetime risk of ovarian, fallopian tube, or peritoneal cancer increases in patients with BRCA 1 & 2 mutations, Lynch and Peutz-Jeghers syndromes. Other specific genes associated with ovarian cancer include BRIP1, RAD51C, and RAD51D. Identifying risk factors should prompt referral for genetic counseling by a cancer genetics specialist to further assess the need for genetic testing.   

For patients with BRCA and Lynch mutations, risk-reducing bilateral salpingo-oophorectomy is recommended after completion of childbearing between ages 35 and 45, depending on the specific mutation. During risk-reducing bilateral salpingo-oophorectomy, the focus of surgical techniques ensures complete removal of tubal and ovarian tissue, thorough visualization of peritoneal surfaces, and peritoneal washings. The evaluation for occult malignancy involves extensive surgical pathological sectioning.  

An adnexal mass in a patient with a suspicious family history or a personal history of a BRCA or Lynch mutation prompts a heightened suspicion for malignancy and a lower threshold for surgery. Surgery may be more appropriate than observation for indeterminant adnexal masses (benign appearing or highly suspicious masses) in women at higher risk for ovarian cancer. The Pearls (Management of Adnexal Cysts and Evaluation of the Adnexal Mass in An Older Patient) cover the management of adnexal masses in the general population.   In women at higher risk for malignancy based on genetic mutation or family history, evaluation by pelvic ultrasound is still appropriate. Using serum markers such as CA-125 or HE-4 may be helpful in management. Tests such as OVA-1, ROMA, and OVERA refer to studies of average-risk populations. They are not screening tests and may not accurately determine the risk of malignancy in a woman already at increased risk based on family history or genetic mutation. It is advisable to have a gynecologic oncologist involved in the surgical care of these patients in case malignancy is found, regardless of serum marker results. 


Further Reading:

American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Gynecology. Practice Bulletin No. 174: Evaluation and Management of Adnexal Masses. Obstet Gynecol. 2016 Nov;128(5):e210-e226. doi: 10.1097/AOG.0000000000001768. PMID: 27776072.

Committee on Practice Bulletins–Gynecology, Committee on Genetics, Society of Gynecologic Oncology. Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome.  Obstet Gynecol. 2017 Sep;130(3):e110-e126. doi: 10.1097/AOG.0000000000002296.

Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION SUMMARY, Number 793. Obstet Gynecol. 2019 Dec;134(6):1366-1367. doi: 10.1097/AOG.0000000000003563. PMID: 31764755.

Initial Approval March 2018; Reaffirmed January 2020; Revised September 2021. Revised September 2023


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This document is designed to aid practitioners in providing appropriate obstetric and gynecologic care. Recommendations are derived from major society guidelines and high-quality evidence when available, supplemented by the opinion of the author and editorial board when necessary. It should not be construed as dictating an exclusive course of treatment or procedure to be followed.

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