ArticleHuman mutation2008
Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.
Article in Human mutation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.Human mutation · 2026Article
- Review
- Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.Asian Pacific journal of cancer prevention : APJCP · 2022Article
- Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.JCO global oncology · 2020Article
- Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers.Journal of experimental & clinical cancer research : CR · 2020Review
- TheGenes · 2019Article
- Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.American journal of human genetics · 2018Article
- Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.Breast cancer research and treatment · 2018Article
- Article
- Article
- Genetic predisposition to colorectal cancer: where we stand and future perspectives.World journal of gastroenterology · 2014Review
- Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.Familial cancer · 2013Article
- Article
- Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.Hereditary cancer in clinical practice · 2012Article
- Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.Human mutation · 2012Article
- A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).Human mutation · 2012Review
- Anticipation in lynch syndrome: where we are where we go.Current genomics · 2011Article
- Annotating individual human genomes.Genomics · 2011Review
- Article
- A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.Hereditary cancer in clinical practice · 2010Article
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Authors and funding
8 authors.
Funding
Abstract
It is important to identify a germline mutation in a patient with an inherited cancer syndrome to allow mutation carriers to be included in cancer surveillance programs, which have been proven to save lives. Many of the mutations identified result in premature termination of translation, and thus in loss-of-function of the encoded mutated protein. However, the significance of a large proportion of the sequence changes reported is unknown. Some of these variants will be associated with a high risk of cancer and have direct clinical consequence. Many criteria can be used to classify variants with unknown significance; most criteria are based on the characteristics of the amino acid change, on segregation data and appearance of the variant, on the presence of the variant in controls, or on functional assays. In inherited cancers, tumor characteristics can also be used to classify variants. It is worthwhile to examine the clinical, morphological and molecular features of a patient, and his or her family, when assessing whether the role of a variant is likely to be neutral or pathogenic. Here we describe the advantages and disadvantages of using the tumor characteristics of patients carrying germline variants of uncertain significance (VUS) in BRCA1, BRCA2, or in one of the mismatch repair (MMR) genes, MLH1, MSH2, or MSH6, to infer pathogenicity.
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