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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter


IMPACT FACTOR 2017: 3.556

CiteScore 2018: 2.44

SCImago Journal Rank (SJR) 2018: 1.191
Source Normalized Impact per Paper (SNIP) 2018: 1.205

Online
ISSN
1437-4331
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Volume 57, Issue 6

Issues

Significant allelic dropout phenomenon of Oncomine BRCA Research Assay on Ion Torrent S5

Tae-Dong Jeong
  • Department of Laboratory Medicine, College of Medicine, Ewha Womans University, Seoul, Republic of Korea
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Sung-Yup Cho
  • Ewha Institute of Convergence Medicine, Ewha Womans University Mokdong Hospital, Seoul, Republic of Korea
  • Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Republic of Korea
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Mi-Wha Kim
  • Department of Laboratory Medicine, College of Medicine, Ewha Womans University, Seoul, Republic of Korea
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Jungwon Huh
  • Corresponding author
  • Department of Laboratory Medicine, College of Medicine, Ewha Womans University, Seoul, Republic of Korea
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2018-10-23 | DOI: https://doi.org/10.1515/cclm-2018-0674

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    Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17: 405–24.CrossrefWeb of SciencePubMedGoogle Scholar

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    Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2002;346:1609–15.CrossrefPubMedGoogle Scholar

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    Chong HK, Wang T, Lu HM, Seidler S, Lu H, Keiles S, et al. The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay. PLoS One 2014;9:e97408.PubMedWeb of ScienceCrossrefGoogle Scholar

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    Silva FC, Torrezan GT, Brianese RC, Stabellini R, Carraro DM. Pitfalls in genetic testing: a case of a SNP in primer-annealing region leading to allele dropout in BRCA1. Mol Genet Genomic Med 2017;5:443–7.PubMedWeb of ScienceCrossrefGoogle Scholar

About the article

Corresponding author: Jungwon Huh, MD, PhD, Department of Laboratory Medicine, College of Medicine, Ewha Womans University, 1071 Anyangcheon-ro, Yangcheon-gu, Seoul 07985, Republic of Korea, Phone: +82-02-2650-6151, Fax: +82-02-2650-5091


Received: 2018-06-27

Accepted: 2018-10-02

Published Online: 2018-10-23

Published in Print: 2019-05-27


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), Volume 57, Issue 6, Pages e124–e127, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm-2018-0674.

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