Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer-Reference-Cited by-同舟云学术

Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer

Published:2022-02-01 Issue:2 Volume:22 Page:239-246
ISSN:1473-7159
Container-title:Expert Review of Molecular Diagnostics
language:en
Short-container-title:Expert Review of Molecular Diagnostics

Author:

Agaoglu Nihat Bugra¹²^ORCID,Unal Busra¹^ORCID,Akgun Dogan Ozlem¹³^ORCID,Zolfagharian Payam¹^ORCID,Sharifli Pari¹^ORCID,Karakurt Aylin¹^ORCID,Can Senay Burak¹^ORCID,Kizilboga Tugba¹⁴^ORCID,Yildiz Jale¹⁴^ORCID,Dinler Doganay Gizem⁴^ORCID,Doganay Levent¹^ORCID

Affiliation:

1. Genomic Laboratory (GLAB), Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey

2. Department of Medical Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey

3. Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey

4. Department of Molecular Biology and Genetics, Istanbul Technical University, Istanbul, Turkey

Funder

Istanbul Development Agency

Publisher

Informa UK Limited

Subject

Genetics,Molecular Biology,Molecular Medicine,Pathology and Forensic Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/14737159.2022.2048373

Reference43 articles.

1. Updates on breast cancer genetics: Clinical implications of detecting syndromes of inherited increased susceptibility to breast cancer

2. Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls

3. ClinVar: improving access to variant interpretations and supporting evidence

4. Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

5. Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families

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