Literature DB >> 23150219

CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families.

L Fachal1, M Santamariña, A Blanco, A Carracedo, A Vega.   

Abstract

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Year:  2012        PMID： 23150219     DOI： 10.1007/s12094-012-0967-z

Source DB:  PubMed          Journal:  Clin Transl Oncol        ISSN： 1699-048X            Impact factor:   3.405


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  12 in total

1.  The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy.

Authors:  Maria Adelaide Caligo; Simona Agata; Gitana Aceto; Rosella Crucianelli; Siranoush Manoukian; Bernard Peissel; Maria Chiara Scaini; Elisa Sensi; Serena Veschi; Alessandro Cama; Paolo Radice; Alessandra Viel; Emma D'Andrea; Marco Montagna
Journal:  Hum Mutat       Date:  2004-07       Impact factor: 4.878

Review 2.  Testing for CHEK2 in the cancer genetics clinic: ready for prime time?

Authors:  S A Narod
Journal:  Clin Genet       Date:  2010-07       Impact factor: 4.438

3.  CHEK2 1100delC is present in familial breast cancer cases of the Basque Country.

Authors:  Cristina Martínez-Bouzas; Elena Beristain; Isabel Guerra; Javier Gorostiaga; Jose-Luis Mendizabal; Jose-Luis De-Pablo; Eva García-Alegría; Arantza Sanz-Parra; Maria-Isabel Tejada
Journal:  Breast Cancer Res Treat       Date:  2006-10-25       Impact factor: 4.872

4.  Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?

Authors:  Sara Gutiérrez-Enríquez; Judith Balmaña; Montserrat Baiget; Orland Díez
Journal:  Breast Cancer Res Treat       Date:  2007-04-26       Impact factor: 4.872

5.  Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.

Authors:  Michal Konecny; Miriam Milly; Katarina Zavodna; Eva Weismanova; Jaroslava Gregorova; Iveta Mlkva; Denisa Ilencikova; Juraj Kausitz; Zdena Bartosova
Journal:  Breast Cancer Res Treat       Date:  2011-01-04       Impact factor: 4.872

6.  CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.

Authors:  Muriel A Adank; Marianne A Jonker; Irma Kluijt; Saskia E van Mil; Rogier A Oldenburg; Wolter J Mooi; Frans B L Hogervorst; Ans M W van den Ouweland; Johan J P Gille; Marjanka K Schmidt; Aad W van der Vaart; Hanne Meijers-Heijboer; Quinten Waisfisz
Journal:  J Med Genet       Date:  2011-11-05       Impact factor: 6.318

7.  Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula.

Authors:  A Vega; M Torres; J I Martínez; C Ruiz-Ponte; F Barros; A Carracedo
Journal:  Ann Hum Genet       Date:  2002-01       Impact factor: 1.670

8.  The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.

Authors:  A Vega; B Campos; B Bressac-De-Paillerets; P M Bond; N Janin; F S Douglas; M Domènech; M Baena; C Pericay; C Alonso; A Carracedo; M Baiget; O Diez
Journal:  Hum Mutat       Date:  2001-06       Impact factor: 4.878

9.  Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.

Authors:  Hanne Meijers-Heijboer; Ans van den Ouweland; Jan Klijn; Marijke Wasielewski; Anja de Snoo; Rogier Oldenburg; Antoinette Hollestelle; Mark Houben; Ellen Crepin; Monique van Veghel-Plandsoen; Fons Elstrodt; Cornelia van Duijn; Carina Bartels; Carel Meijers; Mieke Schutte; Lesley McGuffog; Deborah Thompson; Douglas Easton; Nayanta Sodha; Sheila Seal; Rita Barfoot; Jon Mangion; Jenny Chang-Claude; Diana Eccles; Rosalind Eeles; D Gareth Evans; Richard Houlston; Victoria Murday; Steven Narod; Tamara Peretz; Julian Peto; Catherine Phelan; Hong Xiang Zhang; Csilla Szabo; Peter Devilee; David Goldgar; P Andrew Futreal; Katherine L Nathanson; Barbara Weber; Nazneen Rahman; Michael R Stratton
Journal:  Nat Genet       Date:  2002-04-22       Impact factor: 38.330

10.  Multiple local and recent founder effects of TGM1 in Spanish families.

Authors:  Laura Fachal; Laura Rodríguez-Pazos; Manuel Ginarte; Jaime Toribio; Antonio Salas; Ana Vega
Journal:  PLoS One       Date:  2012-04-12       Impact factor: 3.240
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  1 in total

Review 1.  CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate.

Authors:  Lenka Stolarova; Petra Kleiblova; Marketa Janatova; Jana Soukupova; Petra Zemankova; Libor Macurek; Zdenek Kleibl
Journal:  Cells       Date:  2020-12-12       Impact factor: 6.600
  1 in total

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