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Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.

التفاصيل البيبلوغرافية
العنوان: Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.
المؤلفون: 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
المصدر: PLoS ONE, Vol 8, Iss 3, p e59823 (2013)
بيانات النشر: Public Library of Science (PLoS), 2013.
سنة النشر: 2013
المجموعة: LCC:Medicine
LCC:Science
مصطلحات موضوعية: Medicine, Science
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1932-6203
Relation: http://europepmc.org/articles/PMC3606281?pdf=render; https://doaj.org/toc/1932-6203
DOI: 10.1371/journal.pone.0059823
URL الوصول: https://doaj.org/article/c207b0e202d54167a97757e22cb2b321
رقم الأكسشن: edsdoj.207b0e202d54167a97757e22cb2b321
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:19326203
DOI:10.1371/journal.pone.0059823