Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity. (Q52147073)

23 April 2018

title

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity. (English)

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Dov Hershkovitz

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Dov Hershkovitz

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Nurit Magal

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Nurit Magal

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Valerie Drasinover

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Valerie Drasinover

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author name string

Hagit N Baris

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Inbal Barnes-Kedar

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Helen Toledano

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Marisa Halpern

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Alexander Lossos

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Israela Lerer

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Tamar Peretz

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Revital Kariv

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Shlomi Cohen

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Elizabeth E Half

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Katharina Wimmer

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Yael Goldberg

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Dani Bercovich

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publication date

6 November 2015

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published in

Pediatric Blood Cancer

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volume

63

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issue

3

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page(s)

418-427

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The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas

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Feasibility of screening for Lynch syndrome among patients with colorectal cancer

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Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

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The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations

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

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Constitutional mismatch repair-deficiency syndrome

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

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The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.

21 January 2018

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An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.

21 January 2018

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Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome

21 January 2018

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Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

21 January 2018

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Mutation spectrum in HNPCC in the Israeli population.

21 January 2018

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Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

21 January 2018

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Human MSH6 deficiency is associated with impaired antibody maturation

21 January 2018

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Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

21 January 2018

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Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

21 January 2018

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Consanguinity in a population sample of Israeli Muslim Arabs, Christian Arabs and Druze.

21 January 2018

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Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

21 January 2018

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The diagnostic value of café-au-lait macules

21 January 2018

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Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.

21 January 2018

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PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

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A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

21 January 2018

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Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service

21 January 2018

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Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation

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21 January 2018

Identifiers

DOI

10.1002/PBC.25818

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23 April 2018

PubMed ID

26544533

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23 April 2018