Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Q36217478)

12 August 2017

Determining the frequency of de novo germline mutations in DNA mismatch repair genes (English)

1 reference

12 August 2017

1 reference

6

1 reference

12 August 2017

Daniel D Buchanan

3

0 references

Aung Ko Win

object named as

Aung Ko Win

series ordinal

1

0 references

Mark Jenkins

object named as

Mark A Jenkins

series ordinal

2

0 references

John Hopper

series ordinal

9

object named as

John L Hopper

1 reference

12 August 2017

10

Stephen N Thibodeau

1 reference

12 August 2017

11

Noralane M Lindor

1 reference

12 August 2017

8

Barbara A Leggett

1 reference

12 August 2017

4

Mark Clendenning

1 reference

12 August 2017

7

Jack Goldblatt

1 reference

12 August 2017

5

Joanne P Young

1 reference

PMC publication ID

3436601

12 August 2017

language of work or name

English

0 references

publication date

2 June 2011

1 reference

Journal of Medical Genetics

12 August 2017

1 reference

12 August 2017

48

1 reference

12 August 2017

8

1 reference

12 August 2017

530-534

1 reference

The Search for Unaffected Individuals with Lynch Syndrome: Do the Ends Justify the Means?

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Risks of Lynch syndrome cancers for MSH6 mutation carriers

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Genetic testing for hereditary colorectal cancer

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Prediction of germline mutations and cancer risk in the Lynch syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

First report of a de novo germline mutation in the MLH1 gene

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

The hamartomatous polyposis syndromes: a clinical and molecular review

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Application of genetics to the prevention of colorectal cancer.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Mismatch repair and the hereditary non-polyposis colorectal cancer syndrome (HNPCC)

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Population carrier frequency of hMSH2 and hMLH1 mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Clinical diagnosis and management of hereditary colorectal cancer syndromes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Recurrent germline mutation in MSH2 arises frequently de novo

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

A proven de novo germline mutation in HNPCC

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Genetics of colon cancer: impact of inheritance on colon cancer risk

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Spontaneous mutation in familial adenomatous polyposis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

A de novo MLH1 germ line mutation in a 31-year-old colorectal cancer patient.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

De novo mutations in familial adenomatous polyposis (FAP).

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

Use of Molecular Tumor Characteristics to Prioritize Mismatch Repair Gene Testing in Early-Onset Colorectal Cancer

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436601

A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21636617

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2011-100082

1 reference

12 August 2017

1 reference

PMC publication ID

3436601

12 August 2017

PubMed publication ID

21636617

1 reference

PMC publication ID

3436601