Literature DB >> 27931838

Routine use of gene panel testing in hereditary breast cancer should be performed with caution.

Cedric van Marcke1, Anne De Leener2, Martine Berlière3, Miikka Vikkula4, Francois P Duhoux5.   

Abstract

Breast cancer is the most frequent cancer occurring in women. Ten percent of these cancers are considered hereditary. Among them, 30% are attributed to germline mutations in the tumor suppressor genes BRCA1 and BRCA2. Other genes of lower penetrance are also known, explaining together up to 40% of the hereditary risk of breast cancer. New techniques, such as next-generation sequencing, allow the simultaneous analysis of multiple genes in a cost-effective way. As a logical consequence, gene panel testing is entering clinical practice with the promise of personalized care. We however advocate that gene panel testing is not ready for non-specialist clinical use, as it generates many variants of unknown significance and includes more genes than are presently considered clinically useful. We hereby review the data for each gene that can change the risk management of patients carrying a pathogenic variant. Copyright Â
© 2016 Elsevier Ireland Ltd. All rights reserved.

Entities:  

Keywords:  Gene panel testing; Hereditary breast cancer; Personalized care; Variants of unknown significance

Mesh:

Substances:

Year:  2016        PMID: 27931838     DOI: 10.1016/j.critrevonc.2016.10.008

Source DB:  PubMed          Journal:  Crit Rev Oncol Hematol        ISSN: 1040-8428            Impact factor:   6.312


  6 in total

Review 1.  Precision reproductive medicine: multigene panel testing for infertility risk assessment.

Authors:  Stephen C Collins
Journal:  J Assist Reprod Genet       Date:  2017-05-03       Impact factor: 3.412

2.  The impact of the number of tests presented and a provider recommendation on decisions about genetic testing for cancer risk.

Authors:  Marci L B Schwartz; William M P Klein; Lori A H Erby; Christy H Smith; Debra L Roter
Journal:  Patient Educ Couns       Date:  2020-09-18

3.  Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons.

Authors:  Jordan D Frey; Ara A Salibian; Freya R Schnabel; Mihye Choi; Nolan S Karp
Journal:  Plast Reconstr Surg Glob Open       Date:  2017-11-20

4.  Predictors of next-generation sequencing panel selection using a shared decision-making approach.

Authors:  Eliza Courtney; Shao-Tzu Li; Tarryn Shaw; Yanni Chen; John Carson Allen; Joanne Ngeow
Journal:  NPJ Genom Med       Date:  2018-04-27       Impact factor: 8.617

Review 5.  Multi gene panel testing for hereditary breast cancer - is it ready to be used?

Authors:  Andreea Catana; Adina Patricia Apostu; Razvan-Geo Antemie
Journal:  Med Pharm Rep       Date:  2019-07-31

6.  Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.

Authors:  Jonas Langerud; Elisabeth Jarhelle; Marijke Van Ghelue; Sarah Louise Ariansen; Nina Iversen
Journal:  Hum Genomics       Date:  2018-11-20       Impact factor: 4.639

  6 in total

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