Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer (Q36385676)

13 August 2017

Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer (English)

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13 August 2017

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15

S A Narod

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13 August 2017

T Pal

1

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13 August 2017

M R Akbari

2

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13 August 2017

P Sun

3

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13 August 2017

J-H Lee

4

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13 August 2017

J Fulp

5

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13 August 2017

Z Thompson

6

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13 August 2017

D Coppola

7

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13 August 2017

S Nicosia

8

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13 August 2017

T A Sellers

9

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13 August 2017

J McLaughlin

10

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13 August 2017

H A Risch

11

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13 August 2017

B Rosen

12

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13 August 2017

P Shaw

13

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13 August 2017

J Schildkraut

14

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13 August 2017

language of work or name

English

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publication date

9 October 2012

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British Journal of Cancer

13 August 2017

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13 August 2017

107

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13 August 2017

10

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13 August 2017

1783-1790

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Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Feasibility of screening for Lynch syndrome among patients with colorectal cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Current approaches in familial colorectal cancer: a clinical perspective

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)].

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Cancer risk in mismatch repair gene mutation carriers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

SIFT: Predicting amino acid changes that affect protein function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Association of tumour site and sex with survival benefit from adjuvant chemotherapy in colorectal cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Primer3 on the WWW for general users and for biologist programmers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Familial endometrial cancer in female carriers of MSH6 germline mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Mutation of a mutL homolog in hereditary colon cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes

30 September 2017

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493867

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genesMSH2,MLH1,MSH6, andPMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

21 September 2018

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

Large genomic rearrangements and germline epimutations in Lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/BJC.2012.452

Integrated analysis of unclassified variants in mismatch repair genes

21 January 2018

1 reference

12 December 2020

P53 alteration and microsatellite instability have predictive value for survival benefit from chemotherapy in stage III colorectal carcinoma

1 reference

12 December 2020

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families

1 reference

12 December 2020

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

1 reference

12 December 2020

Survival of Patients with Ovarian Cancer due to a Mismatch Repair Defect

1 reference

12 December 2020

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. II. Invasive epithelial ovarian cancers in white women. Collaborative Ovarian Cancer Group

1 reference

12 December 2020

Screening for early ovarian cancer

1 reference

12 December 2020

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

12 December 2020

BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing

1 reference

12 December 2020

Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors

1 reference

12 December 2020

A cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers

1 reference

12 December 2020

The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer

1 reference

12 December 2020

Identifiers

DOI

10.1038/BJC.2012.452

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

23047549

1 reference