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Ovarian cancer surveillance could lead to earlier diagnosis for women with defective BRCA genes who wish to delay surgery

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Regular monitoring of women with defective BRCA genes that making them highly susceptible to ovarian cancer leading to earlier diagnosis in those who want to delay preventive surgery, findings published online in

Journal of Medical Genetics

studies on . While not a long-term option, this reliance is specifically designed The triage algorithm’s approach could also save thousands of pounds in treatment costs for the NHS, the study found.

Inherited changes in the BRCA1 and BRCA2 genes significantly increase a person’s chance of developing ovarian cancer. Here, carriers are advised to undergo prophylactic surgery starting at age 35 (BRCA1) or 40 (BRCA2) to prevent the disease.

Surgery – bilateral salpingo-oophorectomy – involves removal of both ovaries and connection of the ovaries to the uterus fallopian tubes. But this can lead to infertility and premature menopause. As a result, 20% to 40% of affected women delay or do not undergo surgery, putting them at risk, so an effective surveillance option is crucial: prompting the Risk of Ovarian Cancer Algorithm (ROCA) test. ROCA calculates the probability of ovarian and fallopian tube cancer using an algorithm that evaluates a Blood proteins can change over time, dividing women into different risk categories.

ROCA in Clinical Trial for Women at High Risk of Ovarian Cancer Reduces Need for Chemotherapy Before Surgery, Major Surgical interventions are reduced, as is the risk of widespread disease spread. These encouraging findings prompted the establishment of a national Avoiding Advanced Ovarian Cancer Diagnosis (ALDO) pilot surveillance program to determine whether the clinical trial results could be replicated in the “real world” and whether the approach would be cost-effective. Women with BRCA1/2 mutations from 13 genetic centers or familial cancer clinics in England and Wales were They are invited to participate if they are between the ages of 35-85 and have not had their ovaries and fallopian tubes removed. Pilots are conducted every 4 months from 5 October 2018 to 30 November 2020 ROCA test. If their ROCA test results are normal, women continue to be monitored every four months; if they are “mildly elevated,” they repeat the test after 6 weeks; if they are “moderately elevated,” they also undergo a transvaginal ultrasound scan; If “significantly elevated,” they will be referred to a gynecologist for clinical evaluation and a vaginal scan.

, 767 women had at least one ROCA test during the study period. Their average age is 40 years old. BRCA variants were confirmed in 755 (99%): 339 (45%) BRCA1; 410 (54%) BRCA2; and 6 (less than 1%) both variants. Twenty-two (just under 3%) women were referred to a gynecologist for clinical evaluation and scans, Of these, 8 were those who underwent surgery for suspected ovarian cancer, 9 continued with routine monitoring, 3 were diagnosed with other cancers (2 breast cancer that had spread; 1 pancreatic cancer), and 1 was referred Repeated CA125 (normal) to her GP as monitoring ended; and 1 opted for preventive surgery.

A total of 19 women (2.5%) received surgery results due to abnormal ROCA tests. Of these 8 suspected cancer patients, 6 had ovarian/fallopian tube cancer and 2 had cysts or endometriosis. Despite subsequent normal ROCA results, 11 opted for preventive surgery. Eight women were diagnosed with ovarian or fallopian tube cancer during the study period. Six of these were selected by ROCA testing; half of these were early-stage disease (no tumor visible outside the pelvis). In 5 of 6 cases, all visible tumors were completely resected. The other two cases were occult cancers detected only during preventive surgery; both were in early stages.

2 additional women who agreed to participate but were not monitored developed ovarian development/fallopian tube cancer (1 in prophylaxis Diagnosed during sex surgery, 1 patient developed symptoms). Both were terminal cancers with visible disease outside the pelvis. Those with cancer — it was 87 percent, while specificity — the accuracy with which it picked out those without cancer — was just under 100 percent.

Surveillance is estimated to increase the time each woman with ovarian cancer enjoys a good quality of life by about 2 months . Treatment costs were saved by around £100,000 per woman compared to no monitoring.

The researchers acknowledge that their findings have some limitations. These include the relatively low number of cancers and the inability to track the women’s health for any significant period of time after the study was completed. But the proportion of early-stage cancers detected by surveillance was similar to long-term clinical trials, “suggesting consistent downscaling effects may be replicated in larger/longer programs,” they noted.

They conclude, “[Ovarian cancer] is critical to postponing [preventive surgery] in ‘real world’ settings ] in women for surveillance was feasible and showed similar performance to the research trial; it downstaged [ovarian cancer], resulted in high rates of complete cytoreduction [removal of all visible tumor], and in UK national cost savings in NHS settings.” They add that “although [preventive surgery ] remains the only effective way to avoid ovarian cancer, but regular monitoring using the ROCA test is currently not available in the NHS and is a viable short-term option for women wishing to defer surgery.”

But they warn that these women should be counseled extensively about its limitations and advise that indefinitely delaying preventive surgery risks incurable ovarian cancer.

More information: Avoiding Advanced Ovarian Cancer Diagnosis (ALDO) Project; National Pilot Surveillance Program for Women with Pathogenic Germline Variants in BRCA1 and BRCA2,

Journal of Medical Genetics (2022). DOI: 10.1136/jmg-2022-108741

citation: Ovarian Cancer Surveillance Results for Early Diagnosis in BRCA Defective Women Who Want to Defer Surgery (2022, November 1) Retrieved November 15, 2022 from 11-ovarian-cancer-surveillance-results-earlier Search. html
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