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For people with Down syndrome, family members, caregivers and professionals.

Cancer Screening in Adults with Down Syndrome: A Proposal

October 2019 | Rethore et al. - European Journal of Medical Genetics (2019)


Background: The specific distribution of cancers in Down syndrome (DS) calls into question the validity of screening policies for cancer surveillance as implemented for the general population.

Methods: We performed a literature review of cancer screening opportunities for adults with DS taking account of the tumor profile in this specific population.

Results: In DS, solid tumors in adults are at most half as common as in the overall group of persons with intellectual disabilities, who have a frequency similar to that of the general population. In women with DS, breast cancer is rarely reported, although sometimes observed at an advanced stage. Young men have an increased risk of testicular cancer. 

Discussion: We propose that adults with DS should participate in colon cancer screening. For women with DS, breast cancer screening is not recommended, but annual clinical monitoring should be conducted, with the option to perform ultrasound or MRI examination in suspect cases. For cervical cancer, screening could be proposed to women who are sexually active beginning at age 25 years. Annual surveillance for testicular cancer via palpation by a health professional is preferable from ages 15 to 45. In case of additional genetic predisposition in a person with DS, a surveillance similar to other family members is recommended. 

Conclusion: The specific tumor profile in DS warrants an adapted screening program for breast, colon, cervical and testicular neoplasia.

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