If an ovarian growth is suspected, an ultrasound of the ovaries is done. If any abnormality is detected, further testing will be done. Tests include blood studies, CT scans, barium enema X-rays, colonoscopy, MRI, and chest X-rays to help evaluate the extent of the cancer. Ultimately, the surgical opening of the abdomen (exploratory laparotomy) is necessary to confirm or rule out an ovarian cancer diagnosis.
Genetic testing may be useful for women who have a family history of ovarian, uterine (endometrial),...
Several malignancies arise from the ovary. Epithelial carcinoma of the ovary is one of the most common gynecologic malignancies and the fifth most frequent cause of cancer death in women, with 50% of all cases occurring in women older than 65 years. Approximately 5% to 10% of ovarian cancers are familial, and three distinct hereditary patterns have been identified: ovarian cancer alone, ovarian and breast cancers, or ovarian and colon cancers.
The most important risk factor for ovarian cancer is a family history of a first-degree relative (e.g., mother, daughter, or sister) with the disease. The highest risk appears in women who have two or more first-degree relatives with ovarian cancer. The risk is somewhat less for women who have one first-degree and one second-degree relative (grandmother or aunt) with ovarian cancer.
Findings from risk-reducing surgeries in healthy women with BRCA1/2 mutations have reinforced the hypothesis that many high-grade serous cancers-the most common histologic subtype of ovarian cancer-may arise from precursor lesions that originate in the fimbriae of the fallopian tubes. In addition, histologically similar cancers diagnosed as primary peritoneal carcinomas share molecular findings, such as loss or inactivation of the tumor-suppressors p53 and BRCA1/2 proteins. Therefore, high-grade serous adenocarcinomas arising from the fallopian tube and elsewhere in the peritoneal cavity, together with most ovarian epithelial cancers, represent "extrauterine adenocarcinomas of Müllerian epithelial origin" and are staged and treated similarly to ovarian cancer; from 2000 onward, they are usually included in ovarian cancer clinical trials. On the other hand, clear cell and endometrioid ovarian cancers that are linked to endometriosis have different gene-expression signatures, as do mucinous subtypes.
Other Risk Factors
In most families affected with the breast and ovarian cancer syndrome or site-specific ovarian cancer, genetic linkage has been found to the BRCA1 locus on chromosome 17q21.[7,8,9]BRCA2, also responsible for some instances of inherited ovarian and breast cancer, has been mapped by genetic linkage to chromosome 13q12. The lifetime risk for developing ovarian cancer in patients harboring germline mutations in BRCA1 is substantially increased over the general population.[11,12] Two retrospective studies of patients with germline mutations in BRCA1 suggest that these women have improved survival compared with BRCA1 mutation-negative women.[13,14][Level of evidence: 3iiiA] The majority of women with a BRCA1 mutation probably have family members with a history of ovarian and/or breast cancer; therefore, these women may have been more vigilant and inclined to participate in cancer screening programs that may have led to earlier detection.