Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.
Chromosomal abnormalities provide clinical utility in the diagnosis and treatment of hematologic malignancies, and may be predictive of malignant transformation in individuals without apparent clinical presentation of a hematologic cancer. In an effort to confirm previous reports of an association b...
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Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0059823&type=printable |
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| author | Ursula M Schick Andrew McDavid Paul K Crane Noah Weston Kelly Ehrlich Katherine M Newton Robert Wallace Ebony Bookman Tabitha Harrison Aaron Aragaki David R Crosslin Sophia S Wang Alex P Reiner Rebecca D Jackson Ulrike Peters Eric B Larson Gail P Jarvik Christopher S Carlson |
| author_facet | Ursula M Schick Andrew McDavid Paul K Crane Noah Weston Kelly Ehrlich Katherine M Newton Robert Wallace Ebony Bookman Tabitha Harrison Aaron Aragaki David R Crosslin Sophia S Wang Alex P Reiner Rebecca D Jackson Ulrike Peters Eric B Larson Gail P Jarvik Christopher S Carlson |
| author_sort | Ursula M Schick |
| collection | DOAJ |
| description | Chromosomal abnormalities provide clinical utility in the diagnosis and treatment of hematologic malignancies, and may be predictive of malignant transformation in individuals without apparent clinical presentation of a hematologic cancer. In an effort to confirm previous reports of an association between clonal mosaicism and incident hematologic cancer, we applied the anomDetectBAF algorithm to call chromosomal anomalies in genotype data from previously conducted Genome Wide Association Studies (GWAS). The genotypes were initially collected from DNA derived from peripheral blood of 12,176 participants in the Group Health electronic Medical Records and Genomics study (eMERGE) and the Women's Health Initiative (WHI). We detected clonal mosaicism in 169 individuals (1.4%) and large clonal mosaic events (>2 mb) in 117 (1.0%) individuals. Though only 9.5% of clonal mosaic carriers had an incident diagnosis of hematologic cancer (multiple myeloma, myelodysplastic syndrome, lymphoma, or leukemia), the carriers had a 5.5-fold increased risk (95% CI: 3.3-9.3; p-value = 7.5×10(-11)) of developing these cancers subsequently. Carriers of large mosaic anomalies showed particularly pronounced risk of subsequent leukemia (HR = 19.2, 95% CI: 8.9-41.6; p-value = 7.3×10(-14)). Thus we independently confirm the association between detectable clonal mosaicism and hematologic cancer found previously in two recent publications. |
| format | Article |
| id | doaj-art-c207b0e202d54167a97757e22cb2b321 |
| institution | Kabale University |
| issn | 1932-6203 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-c207b0e202d54167a97757e22cb2b3212025-08-20T03:25:08ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0183e5982310.1371/journal.pone.0059823Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.Ursula M SchickAndrew McDavidPaul K CraneNoah WestonKelly EhrlichKatherine M NewtonRobert WallaceEbony BookmanTabitha HarrisonAaron AragakiDavid R CrosslinSophia S WangAlex P ReinerRebecca D JacksonUlrike PetersEric B LarsonGail P JarvikChristopher S CarlsonChromosomal abnormalities provide clinical utility in the diagnosis and treatment of hematologic malignancies, and may be predictive of malignant transformation in individuals without apparent clinical presentation of a hematologic cancer. In an effort to confirm previous reports of an association between clonal mosaicism and incident hematologic cancer, we applied the anomDetectBAF algorithm to call chromosomal anomalies in genotype data from previously conducted Genome Wide Association Studies (GWAS). The genotypes were initially collected from DNA derived from peripheral blood of 12,176 participants in the Group Health electronic Medical Records and Genomics study (eMERGE) and the Women's Health Initiative (WHI). We detected clonal mosaicism in 169 individuals (1.4%) and large clonal mosaic events (>2 mb) in 117 (1.0%) individuals. Though only 9.5% of clonal mosaic carriers had an incident diagnosis of hematologic cancer (multiple myeloma, myelodysplastic syndrome, lymphoma, or leukemia), the carriers had a 5.5-fold increased risk (95% CI: 3.3-9.3; p-value = 7.5×10(-11)) of developing these cancers subsequently. Carriers of large mosaic anomalies showed particularly pronounced risk of subsequent leukemia (HR = 19.2, 95% CI: 8.9-41.6; p-value = 7.3×10(-14)). Thus we independently confirm the association between detectable clonal mosaicism and hematologic cancer found previously in two recent publications.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0059823&type=printable |
| spellingShingle | Ursula M Schick Andrew McDavid Paul K Crane Noah Weston Kelly Ehrlich Katherine M Newton Robert Wallace Ebony Bookman Tabitha Harrison Aaron Aragaki David R Crosslin Sophia S Wang Alex P Reiner Rebecca D Jackson Ulrike Peters Eric B Larson Gail P Jarvik Christopher S Carlson Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer. PLoS ONE |
| title | Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer. |
| title_full | Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer. |
| title_fullStr | Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer. |
| title_full_unstemmed | Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer. |
| title_short | Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer. |
| title_sort | confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0059823&type=printable |
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