{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15(17)"],"submitter":["Bu R"],"pubmed_abstract":["Papillary thyroid carcinoma (PTC) is the commonest thyroid cancer. The majority of inherited causes of PTC remain elusive. However, understanding the genetic underpinnings and origins remains a challenging endeavor. An exome-wide association study was performed to identify rare germline variants in coding regions associated with PTC risk in the Middle Eastern population. By analyzing exome-sequencing data from 249 PTC patients (cases) and 1395 individuals without any known cancer (controls), <i>GALNT9</i> emerged as being strongly associated with rare inactivating variants (RIVs) (4/249 cases vs. 1/1395 controls, OR = 22.75, <i>p</i> = 5.09 × 10<sup>-5</sup>). Furthermore, three genes, <i>TRIM40</i>, <i>ARHGAP23</i>, and <i>SOX4</i>, were enriched for rare damaging variants (RDVs) at the e"],"journal":["Cancers"],"pagination":["4235"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10486701"],"repository":["biostudies-literature"],"pubmed_title":["Whole Exome-Wide Association Identifies Rare Variants in <i>GALNT9</i> Associated with Middle Eastern Papillary Thyroid Carcinoma Risk."],"pmcid":["PMC10486701"],"pubmed_authors":["Qadri Z","Al-Kuraya KS","Al-Sobhi SS","Azam S","Al-Dayel F","Bu R","Siraj AK","Al-Rasheed M","Iqbal K"],"additional_accession":[]},"is_claimable":false,"name":"Whole Exome-Wide Association Identifies Rare Variants in <i>GALNT9</i> Associated with Middle Eastern Papillary Thyroid Carcinoma Risk.","description":"Papillary thyroid carcinoma (PTC) is the commonest thyroid cancer. The majority of inherited causes of PTC remain elusive. However, understanding the genetic underpinnings and origins remains a challenging endeavor. An exome-wide association study was performed to identify rare germline variants in coding regions associated with PTC risk in the Middle Eastern population. By analyzing exome-sequencing data from 249 PTC patients (cases) and 1395 individuals without any known cancer (controls), <i>GALNT9</i> emerged as being strongly associated with rare inactivating variants (RIVs) (4/249 cases vs. 1/1395 controls, OR = 22.75, <i>p</i> = 5.09 × 10<sup>-5</sup>). Furthermore, three genes, <i>TRIM40</i>, <i>ARHGAP23</i>, and <i>SOX4</i>, were enriched for rare damaging variants (RDVs) at the e","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Aug","modification":"2025-04-22T04:14:35.335Z","creation":"2025-04-05T20:53:39.826Z"},"accession":"S-EPMC10486701","cross_references":{"pubmed":["37686511"],"doi":["10.3390/cancers15174235"]}}