biostudies-literatureUnknown15(17)Bu RPapillary 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^-5). Furthermore, three genes, <i>TRIM40</i>, <i>ARHGAP23</i>, and <i>SOX4</i>, were enriched for rare damaging variants (RDVs) at the eCancers4235https://www.ebi.ac.uk/biostudies/studies/S-EPMC10486701biostudies-literatureWhole Exome-Wide Association Identifies Rare Variants in <i>GALNT9</i> Associated with Middle Eastern Papillary Thyroid Carcinoma Risk.PMC10486701Qadri ZAl-Kuraya KSAl-Sobhi SSAzam SAl-Dayel FBu RSiraj AKAl-Rasheed MIqbal KfalseWhole Exome-Wide Association Identifies Rare Variants in <i>GALNT9</i> Associated with Middle Eastern Papillary Thyroid Carcinoma Risk.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^-5). Furthermore, three genes, <i>TRIM40</i>, <i>ARHGAP23</i>, and <i>SOX4</i>, were enriched for rare damaging variants (RDVs) at the e2023-01-01T00:00:00Z2023 Aug2025-04-22T04:14:35.335Z2025-04-05T20:53:39.826ZS-EPMC104867013768651110.3390/cancers15174235