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While screening for genetic mutations is recommended in ovarian cancer cases to optimize treatment, only one-third of the patients concerned are likely to benefit from this test.

As insidious as it is silent, ovarian cancer is often late-detected. Asymptomatic in the very early stages, its identification at an advanced stage complicates its healing. A genetic screening test for cancer-associated mutations is therefore crucial to adapt treatments, predicting its effects and anticipating the risk of developing other tumours. However, this genetic research is only rarely carried out...

 

One third of patients benefit from genetic screening

A study, conducted by researchers at Stanford University School of Medicine and published in the Journal of Clinical Oncology on April 9, found that less than one-quarter of breast cancer patients and one-third of ovarian cancer patients diagnosed between 2013 and 2014 in California and Georgia were screened for mutations associated with their cancer (1). Conducted in 83,000 women, this research revealed significant differences between national guidelines and actual use of this type of test. "Too few women with ovarian cancer benefit from a genetic mutation screening test, which would help guide care decisions and monitor other women in the family," says the study's researchers.

 

Mutations of the BRCA 1 and BRCA 2 genes in 8 to 15% of cases

It is known that hereditary genetic mutations or variations increase the risk of developing breast or ovarian cancer (2). Tests for the BRCA1 and BRCA2 genes, in particular, have been around for years. The objective of this study was to determine how these tests, as well as their results, are used in the real world. "This is the largest population-based study of multigenic testing in women with breast and ovarian cancer," says Allison Kurian, Associate Professor of Medicine and Health and Policy Research at Stanford. "The results showed that between 8 and 15% of women with breast or ovarian cancer had cancer-related mutations that could be used to guide treatment and influence family members' health care. However, patients are far from being tested sufficiently," says Allison Kurian. The interpretation of genetic tests, which has become more complicated since 2013, due to the large number of genes tested, may well explain this trend.

 

Sources

(1) Kurian A. et al. Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients. Journal of Clinical Oncology, avril 2019. https://doi.org/10.1200/JCO.18.01854.

(2) Chompret A. Diagnostic génétique du cancer du sein et de l'ovaire héréditaire. Journal de Gynécologie Obstétrique et Biologie de la ReproductionVol 32, N° 2  - avril 2003, pp. 101-119. Doi : JGYN-04-2003-32-2-0368-2315-101019-ART1.