Rare Endocrinology News

Disease Profile

Ovarian cancer

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

-

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ovarian carcinoma

Categories

Rare Cancers

Summary

Ovarian cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. Many people with early ovarian cancer have no signs or symptoms of the condition. When present, symptoms are often nonspecific and blamed on other, more common conditions. Most cases of ovarian cancer occur sporadically in people with little to no family history of the condition; however, approximately 10-25% of ovarian cancers are thought to be "hereditary." Although the underlying genetic cause of some hereditary cases is unknown, many are part of a hereditary cancer syndrome (such as BRCA1 or BRCA2 hereditary breast and ovarian cancer syndrome, Lynch syndrome and Peutz-Jeghers syndrome) and are inherited in an autosomal dominant manner.[1][2] The best treatment options for ovarian cancer depend on many factors including the subtype and stage of the condition, but may include surgery, chemotherapy, radiation therapy, and/or targeted therapy (such as monoclonal antibody therapy).[3][4][5]

Symptoms

Many people with early ovarian cancer have no signs or symptoms of the condition. When present, symptoms are often nonspecific and blamed on other, more common conditions. Some people with ovarian cancer may experience the following:[2][6]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality

[ more ]

0001939
Autosomal dominant inheritance
0000006
Breast carcinoma
Breast cancer
0003002
Dysgerminoma
0100621
Ovarian papillary adenocarcinoma
0006774
Somatic mutation
0001428

Cause

Most cases of ovarian cancer occur sporadically in people with little to no family history of the condition. They are due to random changes (mutations) that occur only in the cells of the ovary. These mutations (called somatic mutations) accumulate during a person's lifetime and are not inherited or passed on to future generations.[1]

However, approximately 10-25% of ovarian cancers are thought to be "hereditary." These cases are caused by an inherited predisposition to ovarian cancer that is passed down through a family. In some of these families, the underlying genetic cause is not known. However, many of these cases are part of a hereditary cancer syndrome. For example, the following cancer syndromes are associated with an elevated risk of ovarian cancer and several other types of cancer:[1]

Of note, some research suggests that inherited mutations in several other genes (including BARD1, BRIP1, MRE11A, NBN, RAD51, RAD50, CHEK2, and PALB2) may also be associated with an increased risk for ovarian cancer. However, the risk associated with many of these genes is not well understood. Most are termed "moderateor low-penetrant" genes which means that, on their own, they would be expected to have a relatively small effect on ovarian cancer risk. However, in combination with other genes and/or environmental factors, these genes may lead to a significant risk of ovarian cancer.[7]

Diagnosis

If ovarian cancer is suspected based on the presence of certain signs and symptoms, the following tests and procedures may be recommended:[2][6]

  • Physical evaluation and pelvic exam to check for signs of ovarian cancer (i.e. lumps or swelling) and to examine the size, shape and location of the ovaries
  • Ultrasound and other imaging studies to look for abnormal growths
  • Blood tests such as a CA-125 assay which may be elevated in people with ovarian cancer
  • A biopsy of the tumor is the only way to confirm a diagnosis of ovarian cancer

The National Cancer Institute offers more detailed information regarding the tests used to diagnose ovarian cancer. To access this resource, please click here.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    The best treatment options for ovarian cancer depend on many factors including the subtype and stage of the condition. In general, treatment may include a combination of the following:[3][4][5]

    • Surgery to remove the ovaries, the fallopian tubes, the uterus, and/or other structures in the belly (pelvis).
    • Chemotherapy
    • Radiation therapy
    • Targeted therapy (such as monoclonal antibody therapy)

    Unfortunately, research suggests that there are no benefits of ovarian cancer screening (using a CA-125 blood test and transvaginal ultrasound), even in women who are at an elevated risk due to their personal and/or family histories.[8] Women who are at a high-risk for ovarian cancer may, therefore, want to discuss other preventative measures, such as prophylactic surgery, with their healthcare provider. In women with a known hereditary cancer syndrome, management should also include screening for the other component cancers. Please click on the following links for more information regarding the treatment and management of each condition:

     

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    • Doxorubicin HCL liposome(Brand name: Doxil) Manufactured by Alza Corporation
      FDA-approved indication: Treatment of metastatic carcinoma of the ovary in patients with disease that is refractory to both paclitaxeland platinium-based chemotherapy regimens. Refractory disease is defined as disease that has progressed while on treatment, or within 6 months
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Amifostine(Brand name: Ethyol®) Manufactured by Medimmune Oncology, Inc.
      FDA-approved indication: To reduce the cumulative renal toxicity associated with repeated administration of cisplatin in patients with advanced ovarian cancer.
      National Library of Medicine Drug Information Portal
    • Altretamine(Brand name: Hexalen®) Manufactured by Eisai
      FDA-approved indication: Single agent palliative treatment of patients with persistent or recurrent ovarian cancer following first-line therapy with a cisplatin and/or alkylating agent based combination.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Olaparib(Brand name: Lynparza) Manufactured by AstraZeneca Pharmaceuticals LP
      FDA-approved indication: December 2018, olaparib (Lynparza) received expanded approval for the maintenance treatment of adult patients with deleterious or suspected deleterious germline or somatic BRCAmutated (gBRCAm or sBRCAm) advanced epithelial ovarian, fallopian tube or primary peritoneal cancer who are in complete or partial response to first-line platinum based chemotherapy. Select patients with gBRCAm advanced epithelial ovarian, fallopian tube or primary peritoneal cancer for therapy based on FDA-approved companion diagnostic for Lynparza. Original approval was in August 2017.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Satumomab pendetide(Brand name: Oncoscint CR/OV) Manufactured by Cytogen Corporation
      FDA-approved indication: For determining the extent and location of extrahepatic malignant disease in patients with known colorectal and ovarian cancer.
      National Library of Medicine Drug Information Portal
    • Rucaparib(Brand name: Rubraca) Manufactured by Clovis Oncology, Inc.
      FDA-approved indication: December 2016 approved as monotherapy for the treatment of patients with deleterious BRCA mutation (germline and/or somatic) associated advanced ovarian cancer who have been treated with two or more chemotherapies.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • The Mayo Clinic Web site provides further information on Ovarian cancer.
        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Ovarian cancer. This website is maintained by the National Library of Medicine.
        • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Ovarian cancer. Click on the link to view a sample search on this topic.

            References

            1. Genetics of Breast and Gynecologic Cancers (PDQ®). National Cancer Institute. 2017; https://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional.
            2. Andrew E Green, MD. Ovarian Cancer. Medscape Reference. November 2014; https://emedicine.medscape.com/article/255771-overview.
            3. Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer Treatment. National Cancer Institute. February 2015; https://www.cancer.gov/cancertopics/pdq/treatment/ovarianepithelial/HealthProfessional.
            4. Ovarian Germ Cell Tumors Treatment. National Cancer Institute. March 2014; https://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/HealthProfessional.
            5. Ovarian Low Malignant Potential Tumors Treatment. National Cancer Institute. February 2015; https://www.cancer.gov/cancertopics/pdq/treatment/ovarian-low-malignant-potential/HealthProfessional.
            6. Ovarian Cancer. MedlinePlus. October 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000889.htm.
            7. Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. November 2011; 108(44):18032-18037.
            8. Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Screening. National Cancer Institute. March 2015; https://www.cancer.gov/cancertopics/pdq/screening/ovarian/HealthProfessional.

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