(Q60023148)

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Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation

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21 January 2020

Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation (English)

1 reference

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21 January 2020

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Patrizia Suppressa

7

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21 January 2020

9

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21 January 2020

Angelo Andriulli

10

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21 January 2020

Nicoletta Resta

11

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21 January 2020

Alessandro Stella

12

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21 January 2020

author name string

Patrizia Lastella

1

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21 January 2020

Margherita Patruno

2

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21 January 2020

Giovanna Forte

3

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21 January 2020

Alba Montanaro

4

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21 January 2020

Carmela Di Gregorio

5

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21 January 2020

Carlo Sabbà

6

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21 January 2020

Adalgisa Piepoli

8

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21 January 2020

publication date

1 June 2011

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21 January 2020

Familial Cancer

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21 January 2020

10

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21 January 2020

2

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21 January 2020

285-295

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21 January 2020

https://scigraph.springernature.com/pub.10.1007/s10689-011-9419-0

0 references

Surveillance for Hereditary Nonpolyposis Colorectal Cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compliance and Satisfaction with Long-Term Surveillance in Finnish HNPCC Families.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microsatellite instability and mismatch-repair protein expression in hereditary and sporadic colorectal carcinogenesis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent germline mutation in MSH2 arises frequently de novo

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Management of extracolonic tumours in patients with Lynch syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Small bowel carcinoma in hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage analysis identifies gene carriers among members of families with hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

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/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based ApproachVersusMolecular Screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of high-magnification-chromoscopic colonoscopy in hereditary nonpolyposis colorectal cancer screening: a prospective "back-to-back" endoscopic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Surgical management of hereditary colorectal cancer: surgery based on molecular analysis and family history

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Feasibility of screening for Lynch syndrome among patients with colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is there a role for prophylactic subtotal colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ten Years After Mutation Testing for Lynch Syndrome: Cancer Incidence and Outcome in Mutation-Positive and Mutation-Negative Family Members

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Colonoscopic miss rates of adenomas determined by back-to-back colonoscopies

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics

1 reference

https://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/21286823

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10689-011-9419-0

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21286823%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21286823%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

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