1,956
Views
3
CrossRef citations to date
0
Altmetric
LETTERS TO THE EDITOR

A Danish national effort of BRCA1/2 variant classification

, , , , , , & show all

References

  • Thomassen M, Hansen TVO, Borg Å, et al. BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. Acta Oncol. 2008;47:772–777.
  • Sønderstrup IMH, Laenkholm AV, Jensen MB, et al. Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG. Acta Oncol. 2018.
  • Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008;29:1282–1291.
  • Spurdle AB, Healey S, Devereau A, et al. ENIGMA-evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat. 2012;33:2–7.
  • Goldgar DE, Easton DF, Deffenbaugh AM, et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet. 2004;75:535–544.
  • Walker LC, Whiley PJ, Couch FJ, et al. Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. Hum Mutat. 2010;31:E1484–E1505.
  • Spurdle AB, Lakhani SR, Healey S, et al. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis–a report from the kConFab Investigators. J Clin Oncol. 2008;26:1657–1663.
  • Spearman AD, Sweet K, Zhou XP, et al. Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. J Clin Oncol. 2008;26:5393–5400.
  • Osorio A, Milne RL, Honrado E, et al. Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information. Hum Mutat. 2007;28:477–485.
  • Easton DF, Deffenbaugh AM, Pruss D, et al. A systematic genetic assessment of 1433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet. 2007;81:873–883.
  • Gómez García EB, Oosterwijk JC, Timmermans M, et al. A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. Breast Cancer Res. 2009;11:R8.
  • de la Hoya M, Soukarieh O, López-Perolio I, et al. Combined genetic and splicing analysis of BRCA1 c.[594-2A > C; 641A > G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet. 2016;25:2256–2268.
  • Anczuków O, Buisson M, Léoné M, et al. BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy. Clin Cancer Res. 2012;18:4903–4909.
  • den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat. 2016;37:564–569.
  • ClinVar [Internet].USA: NCBI;[cited 2017 August 16]. 2013. Available from: https://www.ncbi.nlm.nih.gov/clinvar/
  • Whiley PJ, de la Hoya M, Thomassen M, et al. Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clin Chem. 2014;60:341–352.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.