Unknown

Dataset Information

0

Rare de novo germline copy-number variation in testicular cancer.

ABSTRACT: Although heritable factors are an important determinant of risk of early-onset cancer, the majority of these malignancies appear to occur sporadically without identifiable risk factors. Germline de novo copy-number variations (CNVs) have been observed in sporadic neurocognitive and cardiovascular disorders. We explored this mechanism in 382 genomes of 116 early-onset cancer case-parent trios and unaffected siblings. Unique de novo germline CNVs were not observed in 107 breast or colon cancer trios or controls but were indeed found in 7% of 43 testicular germ cell tumor trios; this percentage exceeds background CNV rates and suggests a rare de novo genetic paradigm for susceptibility to some human malignancies.

SUBMITTER: Stadler ZK 

PROVIDER: S-EPMC3415553 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Although heritable factors are an important determinant of risk of early-onset cancer, the majority of these malignancies appear to occur sporadically without identifiable risk factors. Germline de novo copy-number variations (CNVs) have been observed in sporadic neurocognitive and cardiovascular disorders. We explored this mechanism in 382 genomes of 116 early-onset cancer case-parent trios and unaffected siblings. Unique de novo germline CNVs were not observed in 107 breast or colon cancer tri  ...[more]

Similar Datasets

Unknown De novo rates and selection of large copy number variation.
| S-EPMC2963811 | biostudies-literature
Unknown Rare de novo copy number variants in patients with congenital pulmonary atresia.
| S-EPMC4020819 | biostudies-literature
Unknown VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.
| S-EPMC3638775 | biostudies-literature
Genomics Rare de novo copy number variants in patients with congenital pulmonary atresia
2014-04-02 | GSE56422 | GEO
Transcriptomics Rare de novo copy number variants in patients with congenital pulmonary atresia
2014-04-02 | E-GEOD-56422 | biostudies-arrayexpress
Unknown Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment.
| S-EPMC4532445 | biostudies-literature
Unknown Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
| S-EPMC6309590 | biostudies-literature
Unknown KOMB: K-core based de novo characterization of copy number variation in microbiomes
| S-EPMC9249589 | biostudies-literature
Unknown De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
| S-EPMC5846809 | biostudies-literature
Unknown De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.
| S-EPMC5685312 | biostudies-literature