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Page 1
Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer.
Lee NY, Hum M, Zihara S, Wang L, Myint MK, Lim DW, Toh CK, Skanderup A, Samol J, Tan MH, Ang P, Lee SC, Tan EH, Lai GGY, Tan DSW, Yap YS, Lee ASG. Lee NY, et al. Hum Genomics. 2023 Jul 17;17(1):66. doi: 10.1186/s40246-023-00510-7. Hum Genomics. 2023. PMID: 37461096 Free PMC article.
The 16 genes include well-known cancer predisposition genes such as BRCA2, TP53, and RAD51D; but also lesser known cancer genes EXT2, WWOX, GATA2, and GPC3. Most of these genes are involved in DNA damage repair, reaffirming the role of impaired DNA repair mechanisms in the …
The 16 genes include well-known cancer predisposition genes such as BRCA2, TP53, and RAD51D; but also lesser known cancer genes EXT2, …
An update on the imaging of diaphyseal aclasis.
Ellatif M, Sharif B, Lindsay D, Pollock R, Saifuddin A. Ellatif M, et al. Skeletal Radiol. 2021 Oct;50(10):1941-1962. doi: 10.1007/s00256-021-03770-3. Epub 2021 Apr 1. Skeletal Radiol. 2021. PMID: 33791832 Review.
Diaphyseal aclasis is an autosomal dominant condition resulting from EXT1 or EXT2 gene mutations and is characterized by multifocal osteochondromas. These can result in a wide spectrum of complications, such as skeletal deformity, neurological and vascular complications, a …
Diaphyseal aclasis is an autosomal dominant condition resulting from EXT1 or EXT2 gene mutations and is characterized by multifocal o …
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.
Caino S, Cubilla MA, Alba R, Obregón MG, Fano V, Gómez A, Zecchini L, Lapunzina P, Aza-Carmona M, Heath KE, Asteggiano CG. Caino S, et al. Genes (Basel). 2022 Nov 7;13(11):2063. doi: 10.3390/genes13112063. Genes (Basel). 2022. PMID: 36360300 Free PMC article.
Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumo …
Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be as …
Correlation between mutated genes and forearm deformity in patients with multiple osteochondroma.
Matsumoto K, Ishimaru D, Ogawa H, Komura S, Shimizu K, Akiyama H. Matsumoto K, et al. J Orthop Sci. 2021 May;26(3):483-486. doi: 10.1016/j.jos.2020.05.012. Epub 2020 Jul 4. J Orthop Sci. 2021. PMID: 32636136
CS was significantly greater in patients with mutant EXT1 than that in those with mutant EXT2 (EXT1, 44.1 16.8%; EXT2, 18.6 14.0%). There were no significant differences in RAA, UV, CS and %RB between patients with missense and other mutations. CONCLUSIONS: Patients …
CS was significantly greater in patients with mutant EXT1 than that in those with mutant EXT2 (EXT1, 44.1 16.8%; EXT2, 18.6 14 …
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
Al-Zayed Z, Al-Rijjal RA, Al-Ghofaili L, BinEssa HA, Pant R, Alrabiah A, Al-Hussainan T, Zou M, Meyer BF, Shi Y. Al-Zayed Z, et al. Orphanet J Rare Dis. 2021 Feb 25;16(1):100. doi: 10.1186/s13023-021-01738-z. Orphanet J Rare Dis. 2021. PMID: 33632255 Free PMC article.
Five patients from different families had no family history and carried de novo mutations (29%, 5/17). No EXT1 and EXT2 mutations were found in the remaining four families. In total, EXT1 and EXT2 mutations were found in 77% (13/17) of Saudi HME patients. ...In cont …
Five patients from different families had no family history and carried de novo mutations (29%, 5/17). No EXT1 and EXT2 mutations wer …
Genomic and transcriptomic profiling reveals key molecules in metastatic potentials and organ-tropisms of hepatocellular carcinoma.
Shi DM, Dong SS, Zhou HX, Song DQ, Wan JL, Wu WZ. Shi DM, et al. Cell Signal. 2023 Apr;104:110565. doi: 10.1016/j.cellsig.2022.110565. Epub 2022 Dec 17. Cell Signal. 2023. PMID: 36539000
During HCC clonal evaluation, TP53, MYO5A and ROS1 mutations occurred in the early stage, EXT2 and NIN in the late stage. NF1 mutant was unique in lung tropistic cell lines, RNF126 mutant in lymphatic tropistic ones. ...
During HCC clonal evaluation, TP53, MYO5A and ROS1 mutations occurred in the early stage, EXT2 and NIN in the late stage. NF1 mutant …
PHF21A Related Disorder: Description of a New Case.
Butera A, Nicotera AG, Di Rosa G, Musumeci SA, Vitello GA, Musumeci A, Vinci M, Gloria A, Federico C, Saccone S, Calì F. Butera A, et al. Int J Mol Sci. 2022 Dec 17;23(24):16130. doi: 10.3390/ijms232416130. Int J Mol Sci. 2022. PMID: 36555772 Free PMC article.
Data from literature relates PHF21A variants with Potocki-Shaffer Syndrome (PSS), a contiguous gene deletion disorder caused by the haploinsufficiency of PHF21A, ALX4, and EXT2 genes. Clinical cardinal features of PSS syndrome are multiple exostoses (due to the EXT2 …
Data from literature relates PHF21A variants with Potocki-Shaffer Syndrome (PSS), a contiguous gene deletion disorder caused by the haploins …
Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies.
Comisi F, Fusco C, Mura R, Cerruto C, D'Agruma L, Carnazzo S, Castori M, Savasta S. Comisi F, et al. Am J Med Genet A. 2025 Jul;197(7):e64052. doi: 10.1002/ajmg.a.64052. Epub 2025 Mar 18. Am J Med Genet A. 2025. PMID: 40099867
Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, mult …
Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EX …
Identification of novel germline mutations in FUT7 and EXT1 linked with hereditary multiple exostoses.
Peng W, Li GF, Lin GW, Cheng XX, Zuo XY, Lin QH, Liu SQ, Li DJ, Lin DC, Yin JQ, Luo CL, Zhang YY, Xie XB, Bei JX. Peng W, et al. Oncogene. 2025 Apr;44(12):835-848. doi: 10.1038/s41388-024-03254-3. Epub 2024 Dec 17. Oncogene. 2025. PMID: 39690272
Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder primarily linked with mutations in Exostosin-1 (EXT1) and Exostosin-2 (EXT2) genes. However, not all HME cases can be explained by these mutations, and its pathogenic mechanisms are not fully un …
Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder primarily linked with mutations in Exostosin-1 (EXT1) and Exo …
Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.
Tong Y, Zhang Y, Luo J, Hong Z, Chen X, Bi Q. Tong Y, et al. Genet Test Mol Biomarkers. 2021 Feb;25(2):145-151. doi: 10.1089/gtmb.2020.0098. Genet Test Mol Biomarkers. 2021. PMID: 33596140
Methods: Polymerase chain reaction-based amplification followed by DNA sequencing of the complete coding sequences of EXT1 and EXT2 was performed for four Chinese families with HMO. Results: The mutant allele was found in six patients: three mutations were found in EXT1 an …
Methods: Polymerase chain reaction-based amplification followed by DNA sequencing of the complete coding sequences of EXT1 and EXT2 w …
36 results