Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for <i>NF1</i> and <i>SKAP1</i> as susceptibility genes.

This effect is consistent with a nominally significant association between decreased NF1 subcutaneous adipose expression and decreased endometrial cancer risk in our recent TWAS. 22 NF1 encodes neurofibromin (NF1), a large multifunctional tumor-suppressor protein that is involved in several cell signaling pathways and regulates many cellular processes such as proliferation and migration. 28 NF1 is also associated with neurofibromatosis type 1 (MIM: 162200 ), a Mendelian disease characterized by fibromatous skin tumors.

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