(Q34788325)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

4 August 2017

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

1 reference

Europe PubMed Central

4 August 2017

Maurizio Genuardi

object named as

Maurizio Genuardi

5

0 references

object named as

Amanda B Spurdle

9

0 references

Nicoline Hoogerbrugge

object named as

Nicoline Hoogerbrugge

8

0 references

William David Foulkes

object named as

William D Foulkes

4

0 references

object named as

Diana M Eccles

2

0 references

Douglas F. Easton

3

object named as

Douglas Easton

1 reference

Europe PubMed Central

4 August 2017

author name string

Sharon E Plon

1

1 reference

Europe PubMed Central

4 August 2017

Marc S Greenblatt

6

1 reference

Europe PubMed Central

4 August 2017

Frans B L Hogervorst

7

1 reference

Europe PubMed Central

4 August 2017

Sean V Tavtigian

10

1 reference

Europe PubMed Central

4 August 2017

IARC Unclassified Genetic Variants Working Group

11

1 reference

Europe PubMed Central

4 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 November 2008

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

29

1 reference

Europe PubMed Central

4 August 2017

1282-1291

1 reference

Europe PubMed Central

4 August 2017

11

1 reference

Europe PubMed Central

4 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=3075918

8 July 2018

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=3075918

8 July 2018

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=3075918

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

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=3075918

8 July 2018

Functional assays for classification of BRCA2 variants of uncertain significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

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=3075918

8 July 2018

A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

Genome-wide association study identifies novel breast cancer susceptibility loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

BIRADS classification in mammography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

Anorectal ultrasound for neoplastic and inflammatory lesions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

A systematic review on communicating with patients about evidence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

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=3075918

8 July 2018

Fine needle aspiration cytology in cancer diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

Risk of perforation after colonoscopy and sigmoidoscopy: a population-based study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

Variability and accuracy in mammographic interpretation using the American College of Radiology Breast Imaging Reporting and Data System

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

8 July 2018

Benefit-risk analysis of different risk-related surveillance schedules following colorectal polypectomy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

26 October 2018

Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

26 October 2018

BRCA1 variants in a family study of African-American and Latina women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

26 October 2018

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

26 October 2018

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075918

26 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=3075918

9 December 2018

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951446

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BRCA1--lots of mutations, lots of dilemmas

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951446

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/18951446

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specimen adequacy and false-negative diagnosis rate in fine-needle aspirates of palpable breast masses

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951446

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951446

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951446

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined use of imaging and cytologic grading schemes for screen-detected breast abnormalities improves overall diagnostic accuracy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951446

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20880

7 January 2021

based on heuristic

inferred from DOI database lookup

Recommendations for locus-specific databases and their curation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20880

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20880

7 January 2021

based on heuristic

inferred from DOI database lookup

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20880

7 January 2021

based on heuristic

inferred from DOI database lookup

Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20880

7 January 2021

based on heuristic

inferred from DOI database lookup

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20880

7 January 2021

based on heuristic

inferred from DOI database lookup

The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20880

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20880

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34788325&oldid=1604733222"