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000180055 1001_ $$0P:(DE-He78)cea283034a4f6c64994f85d4444e7494$$aSkopelitou, Diamanto$$b0$$eFirst author
000180055 245__ $$aWhole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer.
000180055 260__ $$aNew York, NY$$bSpringer$$c2022
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000180055 500__ $$a#EA:C050#LA:C050# / 2022 Jul;297(4):965-979
000180055 520__ $$aAbout 15% of colorectal cancer (CRC) patients have first-degree relatives affected by the same malignancy. However, for most families the cause of familial aggregation of CRC is unknown. To identify novel high-to-moderate-penetrance germline variants underlying CRC susceptibility, we performed whole exome sequencing (WES) on four CRC cases and two unaffected members of a Polish family without any mutation in known CRC predisposition genes. After WES, we used our in-house developed Familial Cancer Variant Prioritization Pipeline and identified two novel variants in the solute carrier family 15 member 4 (SLC15A4) gene. The heterozygous missense variant, p. Y444C, was predicted to affect the phylogenetically conserved PTR2/POT domain and to have a deleterious effect on the function of the encoded peptide/histidine transporter. The other variant was located in the upstream region of the same gene (GRCh37.p13, 12_129308531_C_T; 43 bp upstream of transcription start site, ENST00000266771.5) and it was annotated to affect the promoter region of SLC15A4 as well as binding sites of 17 different transcription factors. Our findings of two distinct variants in the same gene may indicate a synergistic up-regulation of SLC15A4 as the underlying genetic cause and implicate this gene for the first time in genetic inheritance of familial CRC.
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000180055 650_7 $$2Other$$aFamilial colorectal cancer
000180055 650_7 $$2Other$$aGermline variant
000180055 650_7 $$2Other$$aSLC15A4
000180055 650_7 $$2Other$$aWhole exome sequencing
000180055 7001_ $$0P:(DE-He78)43b43c5f20ed70299251a446ad8ec973$$aSrivastava, Aayushi$$b1
000180055 7001_ $$0P:(DE-He78)b5b786a7a28d851956ba90aa9451887a$$aMiao, Beiping$$b2$$udkfz
000180055 7001_ $$0P:(DE-He78)da09d83faa85c143d15611698f7b1eac$$aKumar, Abhishek$$b3
000180055 7001_ $$aDymerska, Dagmara$$b4
000180055 7001_ $$aParamasivam, Nagarajan$$b5
000180055 7001_ $$0P:(DE-He78)f2a782242acf94a3114d75c45dc75b37$$aSchlesner, Matthias$$b6$$udkfz
000180055 7001_ $$aLubinski, Jan$$b7
000180055 7001_ $$0P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865$$aHemminki, Kari$$b8$$udkfz
000180055 7001_ $$0P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696$$aFörsti, Asta$$b9$$udkfz
000180055 7001_ $$00000-0002-1132-1745$$aReddy Bandapalli, Obul$$b10$$eLast author
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