(Q44498341)

3 December 2017

title

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). (English)

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3 December 2017

main subject

multivariate statistics

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10

Hoda Anton-Culver

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3 December 2017

9

Gad Rennert

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3 December 2017

Elizabeth C Chao

1

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3 December 2017

Jonathan L Velasquez

2

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3 December 2017

Mavee S L Witherspoon

3

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3 December 2017

Laura S Rozek

4

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3 December 2017

David Peel

5

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3 December 2017

Pauline Ng

6

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3 December 2017

Stephen B Gruber

7

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3 December 2017

Patrice Watson

8

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3 December 2017

Henry Lynch

11

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3 December 2017

Steven M Lipkin

12

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3 December 2017

publication date

1 June 2008

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3 December 2017

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3 December 2017

volume

29

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3 December 2017

issue

6

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3 December 2017

page(s)

852-860

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Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database

3 December 2017

cites work

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7 January 2021

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer

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7 January 2021

Study design: evaluating gene-environment interactions in the etiology of breast cancer - the WECARE study

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7 January 2021

A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene

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7 January 2021

Screening of patients with a positive family history of colorectal cancer.

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7 January 2021

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

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7 January 2021

Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation

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7 January 2021

Prediction of germline mutations and cancer risk in the Lynch syndrome

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7 January 2021

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

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7 January 2021

MSH2 sequence variations and inherited colorectal cancer susceptibility

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7 January 2021

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

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7 January 2021

Phenotype of microsatellite unstable colorectal carcinomas: Well-differentiated and focally mucinous tumors and the absence of dirty necrosis correlate with microsatellite instability

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7 January 2021

BLM heterozygosity and the risk of colorectal cancer

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7 January 2021

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer

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7 January 2021

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

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7 January 2021

Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.

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7 January 2021

Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability

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7 January 2021

The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2

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7 January 2021

An Msh2 point mutation uncouples DNA mismatch repair and apoptosis

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7 January 2021

The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer

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7 January 2021

Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

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7 January 2021

Missense mutations in hMLH1 associated with colorectal cancer

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7 January 2021

Hereditary nonpolyposis colorectal cancer (HNPCC).

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7 January 2021

Hereditary colorectal cancer

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7 January 2021

CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Accounting for human polymorphisms predicted to affect protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.

1 reference

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7 January 2021

Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases

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7 January 2021

Classification of BRCA1 missense variants of unknown clinical significance

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7 January 2021

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Statins and the risk of colorectal cancer

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https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting Highlights and Bethesda Guidelines

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https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

The interaction of DNA mismatch repair proteins with human exonuclease I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Gene-environment interactions in renal cell carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

SNP frequencies in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Prediction of deleterious human alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Tobacco use and increased colorectal cancer risk in patients with hereditary nonpolyposis colorectal cancer (Lynch syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Conversion of diploidy to haploidy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20735

7 January 2021

Identifiers

DOI

10.1002/HUMU.20735

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3 December 2017

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