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Genetic epidemiological investigation into the association between endometriosis and cutaneous melanoma

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Are endometriosis and melanoma genetically linked?

Intriguing scientific evidence indicates that women with endometriosis have a higher risk of developing melanoma. European researchers are working to unveil the potential genetic association of these two diseases.

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Endometriosis and melanoma are two major health burdens that affect millions of women in Europe. Pigmentary traits consistently associated with melanoma are linked to a higher endometriosis risk suggesting a potential genetic link between the two diseases. However, no previous research has investigated this interesting aspect. The scope of the EU-funded MELENDO2 (Genetic epidemiological investigation into the association between endometriosis and cutaneous melanoma) study is to shed light into this intriguing observation. For this purpose, researchers will prospectively study the potential association between melanoma and endometriosis in the US Nurses’ Health Study II (NHSII), and in a cohort involving 100 000 French women from the National Education System. In addition, the plan is to delineate the implicated biological pathways. Preliminary results showed increased endometriosis risk associated with a family history of melanoma and the presence of nevi. Also, a higher endometriosis risk was observed in cases with intense recreational sun exposure, whereas residential sun exposure was associated with a decreased risk. The study will combine cutting-edge genetics and genomics with traditional epidemiology. After reviewing the SNPs associated with melanoma, pigmentation and nevus propensity, the consortium has selected a number of polymorphisms for genotyping. Data from other studies including the OXEGENE endometriosis genome-wide study will also be included in the analysis. The aim is to find specific associations between endometriosis-associated genetic variants and melanoma risk, and between melanoma-associated variants and endometriosis risk. Overall, the generated data will enhance our knowledge of the genetic background of melanoma and endometriosis and the factors associated with their development. In the future, this information will apply towards the design of personalised medical treatments.


Endometriosis, melanoma, genetic association, nevi, SNP

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