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Polygenic risks scores for autoimmune related diseases are significantly different and skewed in cancer exceptional responders

Chen, S.; Tan, A. L. M. L.; Perry, C. L.; Churchill, S.; Vella, M. E.; Mao, J. F.; Viswanadham, V. V.; Kobren, S.; Kohane, I. S.

2023-02-26 oncology
10.1101/2023.02.22.23285773 medRxiv
Show abstract

A group of 54 exceptional responders (ERs) to cancer treatment across a variety of cancers and treatments were compared to typical cancer patients using previously defined polygenic risk scores (PRS) for multiple autoimmune-related diseases including type 1 diabetes (T1D), hypothyroidism, psoriasis, rheumatoid arthritis, multiple sclerosis, and inflammatory bowel (IBD) disease. Most of the ERs were not treated with checkpoint inhibitors and included a broad array of tumor types. Significantly elevated PRSs were found between ERs relative to typical cancer patients in T1D, hypothyroidism, and psoriasis. IBD PRS scores were significantly decreased in the ERs.

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