(Q36247119)

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Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

5

object named as

Robert M W Hofstra

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

object named as

Rolf H Sijmons

8

0 references

Maurizio Genuardi

object named as

Maurizio Genuardi

4

0 references

object named as

Amanda B Spurdle

10

0 references

William David Foulkes

object named as

William D Foulkes

3

0 references

author name string

Marc S Greenblatt

1

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Lawrence C Brody

2

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Magali Olivier

6

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Sharon E Plon

7

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Olga Sinilnikova

9

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

IARC Unclassified Genetic Variants Working Group

11

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

publication date

1 November 2008

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

29

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

11

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1273-1281

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Assessment of functional effects of unclassified genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

In silico analysis of missense substitutions using sequence-alignment based methods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Recommendations for locus-specific databases and their curation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Biallelic mutations in p16(INK4a) confer resistance to Ras- and Ets-induced senescence in human diploid fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Use of the American College of Radiology BI-RADS guidelines by community radiologists: concordance of assessments and recommendations assigned to screening mammograms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

The breast cancer information core: database design, structure, and scope

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

Database of p53 gene somatic mutations in human tumors and cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

22 September 2018

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

22 September 2018

A survey of locus-specific database curation. Human Genome Variation Society

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

22 September 2018

Recommendations of the 2006 Human Variome Project meeting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

22 September 2018

BI-RADS classification for management of abnormal mammograms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

22 September 2018

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

22 September 2018

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

22 September 2018

Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

21 October 2018

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

5 December 2018

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3446852

5 December 2018

Locus-specific mutation databases: pitfalls and good practice based on the p53 experience

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cancer risk assessment at the atomic level

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of published PKD1 gene sequence variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.20889

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

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