Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. (Q54364278)

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5 February 2020

title

Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals (English)

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5 February 2020

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Carlos Alberto Vaccaro

11

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5 February 2020

Dirce Carraro

14

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Israel Gomy

7

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5 February 2020

Mauro Rossi

15

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5 February 2020

Ligia Oliveira

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ORCID Public Data File 2021

author name string

Mev Dominguez Valentin

1

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Felipe Carneiro da Silva

2

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Erika Maria Monteiro dos Santos

3

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Bianca Garcia Lisboa

4

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Ligia Petrolini de Oliveira

5

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5 February 2020

Fabio de Oliveira Ferreira

6

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Wilson Toshihiko Nakagawa

8

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Samuel Aguiar Junior

9

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Mariana Redal

10

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Adriana Della Valle

12

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Carlos Sarroca

13

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5 February 2020

publication date

1 December 2011

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5 February 2020

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5 February 2020

volume

10

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5 February 2020

issue

4

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5 February 2020

page(s)

641-647

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https://scigraph.springernature.com/pub.10.1007/s10689-011-9461-y

5 February 2020

exact match

0 references

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

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Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.

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Mechanisms of pathogenicity in human MSH2 missense mutants.

21 January 2018

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

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Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.

21 January 2018

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Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene.

21 January 2018

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Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry

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Analysis of CDKN1A polymorphisms: markers of cancer susceptibility?

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Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions

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Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

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Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer

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Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore

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12 December 2020

A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy

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

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A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations

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Two new MLH1 germline mutations in Brazilian lynch syndrome families

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Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families

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Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history

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hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients

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hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer

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