Defining structural variation associated with breast cancer susceptibility by long-read genome sequencing

Germline structural variants (SVs) are challenging to identify by conventional genetic testing assays. Long-read sequencing has improved the global characterization of SVs, but its sensitivity at genetic loci associated with high- and moderate-penetrance cancer susceptibility has not been reported. This study used long-read genome sequencing performed on the Oxford Nanopore Technologies' PromethION to resolve variants underlying breast cancer susceptibility in sixteen individuals with pathogenic germline SVs in BRCA1, BRCA2, CHEK2 or PALB2.

Type: Other
Archiver: EGA European Genome-Phenome Archive

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001008690	Long-read genome sequencing performed on the Oxford Nanopore Technologies' PromethION to resolve variants underlying breast cancer susceptibility in sixteen individuals with pathogenic germline SVs in BRCA1, BRCA2, CHEK2 or PALB2.	PromethION	16

Publications	Citations
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing. Dixon K, Shen Y, O'Neill K, Mungall KL, Chan S, Bilobram S, Zhang W, Bezeau M, Sharma A, Fok A, Mungall AJ, Moore R, Bosdet I, Thibodeau ML, Sun S, Yip S, Schrader KA, Jones SJM. Eur J Hum Genet 31: 2023 602-606	1