2017
DOI: 10.1136/jmedgenet-2017-104892
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CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

Abstract: Incidental identification of a CNV involving a CPG is not rare and poses challenges for future cancer risk estimation. Prospective data collection from CPG-CNV cohorts ascertained incidentally and through syndromic presentations is required to determine the risks posed by specific CNVs. In particular, ascertainment and investigation of adults with CPG-CNVs and adults with learning disability and cancer, could provide important information to guide clinical management and surveillance.

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Cited by 9 publications
(6 citation statements)
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“…Because studies of secondary findings have focused almost exclusively on SNVs or other sequence changes, 30,31 data on intragenic CNVs in the ACMG-listed genes provide useful complementary insight into disease-predisposing variants observable in healthy individuals. 32…”
Section: Discussionmentioning
confidence: 99%
“…Because studies of secondary findings have focused almost exclusively on SNVs or other sequence changes, 30,31 data on intragenic CNVs in the ACMG-listed genes provide useful complementary insight into disease-predisposing variants observable in healthy individuals. 32…”
Section: Discussionmentioning
confidence: 99%
“…Filtered CNVs were manually assessed to exclude artifacts. 61 For comparison of CNV frequencies, the 2-tailed chi square test was employed. See also Supplemental Methods for further details, including ddPCR protocol.…”
Section: Snv and Cnv Detectionmentioning
confidence: 99%
“…In 2010, the ACMG recommended that chromosomal microarray analysis (CMA) be used as the first‐tier test in patients with neurodevelopmental disorders and/or congenital anomalies as whole‐genome arrays yield pathogenic CNVs in 15%–22% of affected individuals 8,9 . Importantly, these patients may harbor medically actionable dosage‐sensitive genes within the deleted or duplicated segments and are unlikely to be tested by exome/genome sequencing 10‐14 . Whole gene duplication or deletion CNVs can be responsible for up 80% of the molecular diagnoses involving dosage‐sensitive genes 15 .…”
Section: Introductionmentioning
confidence: 99%
“…8,9 Importantly, these patients may harbor medically actionable dosage-sensitive genes within the deleted or duplicated segments and are unlikely to be tested by exome/genome sequencing. [10][11][12][13][14] Whole gene duplication or deletion CNVs can be responsible for up 80% of the molecular diagnoses involving dosage-sensitive genes. 15 Relevantly, intragenic CNVs account for about 10% of disease-causing variants [16][17][18] and represent another type of finding that can be detected by CMA or clinical exome/genome sequencing in laboratories that have adopted copy number calling pipelines.…”
mentioning
confidence: 99%