Literature DB >> 16199548

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

S Sun1, C M T Greenwood, I Thiffault, N Hamel, G Chong, W D Foulkes.   

Abstract

The MSH2*1906G-->C mutation was recently shown to be a rare yet highly penetrant mutation leading to colorectal cancer. The mutation was only found among Ashkenazi Jewish individuals and lies on an extended haplotype that is common in that population. This study determined that the mutation probably arose between 11 and 22 generations ago, during the time when the Ashkenazim were living in eastern Europe.

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Year:  2005        PMID: 16199548      PMCID: PMC1735921          DOI: 10.1136/jmg.2005.030999

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  9 in total

1.  Lynch Syndrome in high risk Ashkenazi Jews in Israel.

Authors:  Yael Goldberg; Inbal Kedar; Revital Kariiv; Naama Halpern; Morasha Plesser; Ayala Hubert; Luna Kaduri; Michal Sagi; Israela Lerer; Dvorah Abeliovich; Tamar Hamburger; Aviram Nissan; Hanoch Goldshmidt; Irit Solar; Ravit Geva; Hana Strul; Guy Rosner; Hagit Baris; Zohar Levi; Tamar Peretz
Journal:  Fam Cancer       Date:  2014-03       Impact factor: 2.375

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

Authors:  L Raskin; F Schwenter; M Freytsis; M Tischkowitz; N Wong; G Chong; S A Narod; D A Levine; F Bogomolniy; M Aronson; S N Thibodeau; K S Hunt; G Rennert; S Gallinger; S B Gruber; W D Foulkes
Journal:  Clin Genet       Date:  2010-12-14       Impact factor: 4.438

3.  Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

Authors:  Mef Nilbert; Friedrik P Wikman; Thomas V O Hansen; Henrik B Krarup; Torben F Orntoft; Finn C Nielsen; Lone Sunde; Anne-Marie Gerdes; Dorthe Cruger; Susanne Timshel; Marie-Louise Bisgaard; Inge Bernstein; Henrik Okkels
Journal:  Fam Cancer       Date:  2008-06-20       Impact factor: 2.375

4.  Mutation spectrum in HNPCC in the Israeli population.

Authors:  Yael Goldberg; Rinnat M Porat; Inbal Kedar; Chen Shochat; Michal Sagi; Avital Eilat; Suzan Mendelson; Tamar Hamburger; Aviram Nissan; Ayala Hubert; Luna Kadouri; Eli Pikarski; Israela Lerer; Dvorah Abeliovich; Dani Bercovich; Tamar Peretz
Journal:  Fam Cancer       Date:  2008-04-04       Impact factor: 2.375

5.  How old is this mutation? - a study of three Ashkenazi Jewish founder mutations.

Authors:  Celia M T Greenwood; Shuying Sun; Justin Veenstra; Nancy Hamel; Bethany Niell; Stephen Gruber; William D Foulkes
Journal:  BMC Genet       Date:  2010-05-14       Impact factor: 2.797

6.  Unstable DNA repair genes shaped by their own sequence modifying phenotypes.

Authors:  Daniel S Falster; Sigve Nakken; Marie Bergem-Ohr; Einar Andreas Rødland; Jarle Breivik
Journal:  J Mol Evol       Date:  2010-03-06       Impact factor: 2.395

Review 7.  Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management.

Authors:  Henry T Lynch; Murray Joseph Casey; Carrie L Snyder; Chhanda Bewtra; Jane F Lynch; Matthew Butts; Andrew K Godwin
Journal:  Mol Oncol       Date:  2009-02-21       Impact factor: 6.603

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

Authors:  Yael Goldberg; Rinnat M Porat; Inbal Kedar; Chen Shochat; Daliah Galinsky; Tamar Hamburger; Ayala Hubert; Hana Strul; Revital Kariiv; Liat Ben-Avi; Moran Savion; Eli Pikarsky; Dvorah Abeliovich; Dani Bercovich; Israela Lerer; Tamar Peretz
Journal:  Fam Cancer       Date:  2010-06       Impact factor: 2.375

9.  Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.

Authors:  Ido Laish; Eitan Friedman; Gili Levi-Reznick; Inbal Kedar; Lior Katz; Zohar Levi; Naama Halpern; Shani Parnasa; Aasem Abu-Shatya; Elizabeth Half; Yael Goldberg
Journal:  Breast Cancer Res Treat       Date:  2021-06-04       Impact factor: 4.872

  9 in total

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