Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes

Author:

Moghadasi Setareh1,Eccles Diana M.2,Devilee Peter3,Vreeswijk Maaike P.G.3,van Asperen Christi J.1

Affiliation:

1. Department of Clinical Genetics; Leiden University Medical Centre; Leiden 2333 ZA The Netherlands

2. Faculty of Medicine, University of Southampton, Wessex Clinical Genetics Service; Princess Anne Hospital; Southampton SO16 5YA United Kingdom

3. Department of Human Genetics; Leiden University Medical Centre; Leiden 2333 ZC The Netherlands

Funder

Netherlands Organization for Scientific Research (NWO), research program Mosaic

Van de Kampfonds from Leiden University Medical Centre

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations;Bandipalliam;Fam Cancer,2005

2. Bell J Bodmer D Sistermans E Ramsden SC 2007 Practice guidelines for the interpretation and reporting of unclassified variants (UVs) in clinical molecular genetics. UK Clinical Molecular Genetics Society; 11 January 2008: UK Clinical Molecular Genetics Society and Dutch Society of Clinical Genetics Laboratory Specialists. Unclassified variants good practice meeting Manchester, UK

3. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes;Easton;Am J Hum Genet,2007

4. Understanding of BRCA VUS genetic results by breast cancer specialists;Eccles;BMC Cancer,2015a

5. BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance;Eccles;Ann Oncol,2015b

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