In many cases of ovarian cancer that clusters in families, the genetic basis for the disease and the mechanism of inheritance are unclear. Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.
Ovarian cancer. From Genetics Home Reference. Description Ovarian cancer is a disease that affects women. Frequency Ovarian cancer is diagnosed in about 22, women in the United States each year. Causes Cancers occur when a buildup of mutations in critical genes—those that control cell growth and division or repair damaged DNA—allow cells to grow and divide uncontrollably to form a tumor.
Inheritance Most cases of ovarian cancer are not caused by inherited genetic factors. Research Studies from ClinicalTrials. References Dietl J. Revisiting the pathogenesis of ovarian cancer: the central role of the fallopian tube. Arch Gynecol Obstet. Epub Oct 8. Epub Apr Analysis and comparison of somatic mutations in paired primary and recurrent epithelial ovarian cancer samples. PLoS One. Hereditary breast and ovarian cancer susceptibility genes review. Oncol Rep.
Epub Jun Hereditary ovarian cancer: beyond the usual suspects. Gynecol Oncol. The fallopian tube as the origin of high grade serous ovarian cancer: review of a paradigm shift. J Obstet Gynaecol Can. Obstet Gynecol Clin North Am. Hereditary ovarian cancer: not only BRCA 1 and 2 genes. Biomed Res Int. Epub May Genetic testing by cancer site: ovary. Cancer J. Recruitment and research studies. Contact us. Centre for Behavioural Research in Cancer. Meet the team.
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Join our clinical network. Advocating for people with low survival cancers. Improving access to clinical trials. Nevertheless, since there still are significant challenges in interpreting and managing panel results, much of this information still remains within the field of research and only in specialized centers should become standard of care. More intensive efforts to organize qualified family cancer clinics where the mutational screening and genetic counseling by NGS should be centralized and performed need to occur.
Patients and families with mutations should be informed of the limitations of these approaches and then should be followed up and managed by a multidisciplinary team over an extended time period [ 94 ].
The centralization of genetic testing enables the improvement of access and quality of testing and allows for the creation of a more comprehensive database for research, guiding evidence-based management recommendations [ 89 — 91 ]. The authors declare that there is no conflict of interests regarding the publication of this paper. National Center for Biotechnology Information , U. Journal List Biomed Res Int v. Biomed Res Int.
Published online May Schilder , 3 and Laura Cortesi 1. Russell J. Author information Article notes Copyright and License information Disclaimer. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
This article has been cited by other articles in PMC. Introduction Ovarian cancer represents the leading cause of cancer deaths among gynecological malignancies, accounting worldwide for about Open in a separate window.
Figure 1. Susceptibility genes and their prevalence in hereditary ovarian syndromes. Clinical, Histopathological, and Molecular Features of Ovarian Cancer Ovarian cancer is a heterogeneous disease that includes different biological behaviors at the clinical and molecular level.
Table 1 Different types of ovarian cancer with their clinicopathologic features and behavior. Mismatch Repair Genes and Lynch Syndrome In the mids, Lynch and colleagues described an autosomal-dominant hereditary syndrome that predisposes young people mean age 45 years not affected by adenomatous colonic polyps, to develop colorectal cancer with predilection proximal to the splenic flexure [ 18 , 19 ].
Figure 2. Type of DNA damage, repair pathways, and repair enzymes involved in each pathway. Figure 3. Proteins involved in the homologous recombination HR system. Figure 4. RAD51 Loveday and colleagues [ 74 ] identified truncating RAD51D mutations in 8 of familial breast-ovarian cancer pedigrees, demonstrating that RAD51D mutations confer a sixfold increased risk of ovarian cancer but cause only a small increase in breast cancer.
NGS technologies, based on massively parallel sequencing, offer several advantages over the previous techniques: To analyze simultaneously multiple cancer susceptibility genes in one reaction. To reduce the time required to complete the genetic analyses. To screen additional loci at low additional costs. Great sensitivity, specificity, and accuracy. The main disadvantages of NGS techniques are listed below: Although the overall cost continues to decrease, there are relevant initial costs associated with the technology such as sophisticated computer systems, bioinformatics tools, training of personnel, and, additionally, a significant time contribution.
Figure 5. Conclusions Ovarian cancer represents 3. Conflict of Interests The authors declare that there is no conflict of interests regarding the publication of this paper.
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