Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians. (Q53113583)

11 May 2018

title

Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians. (English)

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11 May 2018

Maurizio Genuardi

3

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Rolf H Sijmons

series ordinal

1

object named as

Rolf H Sijmons

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11 May 2018

author name string

Marc S Greenblatt

series ordinal

2

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11 May 2018

publication date

1 June 2013

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11 May 2018

published in

Familial Cancer

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11 May 2018

volume

12

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11 May 2018

issue

2

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11 May 2018

page(s)

181-187

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11 May 2018

Microsatellite instability in colorectal cancer

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9629-8

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

21 January 2018

1 reference

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Application of molecular diagnostics for the detection of Lynch syndrome

21 January 2018

1 reference

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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

21 January 2018

1 reference

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Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9629-8

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9629-8

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.

21 January 2018

1 reference

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Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.

21 January 2018

1 reference

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Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

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Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-013-9629-8

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

21 January 2018

1 reference

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A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

21 January 2018

1 reference

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The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

21 January 2018

1 reference

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Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

21 January 2018

1 reference

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Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

21 January 2018

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Assessment of functional effects of unclassified genetic variants

21 January 2018

1 reference

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A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

21 January 2018

1 reference

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A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

21 January 2018

1 reference

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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

21 January 2018

1 reference

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No evidence for dual role of loss of heterozygosity in hereditary non-polyposis colorectal cancer

21 January 2018

1 reference

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Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23525798

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10689-013-9629-8

1 reference

11 May 2018

1 reference

11 May 2018