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Article

DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2019

Richardson Marcy E, Chong Hansook, Mu Wenbo, Conner Blair R, Hsuan Vickie, Willett Sara, Lam Stephanie, Tsai Pei, Pesaran Tina, Chamberlin Adam C, Park Min-Sun, Gray Phillip, Karam Rachid, Elliott Aaron

Abstract excerpt

PURPOSE: Gross duplications are ambiguous in terms of clinical interpretation due to the limitations of the detection methods that cannot infer their context, namely, whether they occur in tandem or are duplicated and inserted elsewhere in the genome. We investigated the proportion of gross duplications occurring in tandem in breast cancer predisposition genes with the intent of informing their classifications....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30054569
DOI: 10.1038/s41436-018-0092-7
PMCID: PMC6752314

Genes

ATM
BRCA1
BRCA2
CDH1
CHEK2
PALB2

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