You are here

Article Text

Article menu
Download PDFPDF
Electronic letters
Low frequency of microsatellite instability inBRCA1 mutated breast tumours
  1. CATHERINE VAURS-BARRIÈRE*,
  2. FRÉDÉRIQUE PENAULT-LLORCA†,
  3. VALÉRIE LAPLACE-MARIEZE*,
  4. NADÈGE PRESNEAU*,
  5. CHRISTINE M MAUGARD‡,
  6. MARYSE FICHE§,
  7. AGNÈS HARDOUIN,
  8. YVES-JEAN BIGNON*
  1. *Laboratoire d'Oncologie Moléculaire, CRI 9502 & EA 2145, Centre Jean Perrin, 58 Rue Montalembert, BP 392, 63011 Clermont-Ferrand Cedex 01, France
  2. †Service d'Anatomie et Cytologie Pathologiques, Centre Jean Perrin, 63011 Clermont-Ferrand Cedex 01, France
  3. ‡Centre René Gauducheau, Bd J Monod, 44805 St Herblain, France
  4. §Service d'Anatomie Pathologique, CHU Nantes, Hopital G & R Laënnec, 44093 Nantes Cedex 01, France
  5. ¶Centre François Baclesse, Route de Lion-sur-Mer, BP 5026, 14076 Caen Cedex 5, France
  1. Dr Bignon,Yves-Jean.Bignon{at}cjp.u-clermont1.fr

https://doi.org/10.1136/jmg.37.10.e32

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Editor—BRCA1 is one of the major breast and ovarian cancer susceptibility genes. Many studies have suggested that the BRCA1 protein is multifunctional. Notably, it may play a role in DNA repair, especially in double strand break (DSB) DNA repair by homologous recombination because (1)BRCA1 acts in association with Rad51,1 2 (2) DNA damage induces its phosphorylation and delocalisation from nuclear foci to the DNA replication forks,3 and (3) it contains a zinc finger domain that interacts with BARD1, an effector of DNA repair,4 and two BRCT (BRCA1 C-terminal) domains which are found in various proteins implicated in DNA repair5 6(fig 1A).

    Figure 1

    (A) Schematic representation of the wild type BRCA1 protein with the regions involved in DNA repair shown in black: (a) zinc finger domain (AA 20-68), (b) interaction with Rad51 (AA 758-1064), (c1 and c2) BRCT motifs (respectively AA 1699-1736 and AA 1818-1855). (B) Schematic representation of the BRCA1 mutated proteins generated by germline mutations in the 10 French breast/ovarian cancer families studied. *A Hardouin, personal communication, †C Maugard, personal communication.

    Among the various genetic alterations found in breast tumours, one is called microsatellite instability (MI). MI has been shown in a small fraction of sporadic breast tumours, varying from 0 to 30%,7 and in familial breast tumours conflicting results have been reported with a MI+ tumour frequency of 0% (0/15) according to Lothe et al 8 and 83% (15/18) according to Glebov et al. 9

    MI is characterised by expansion …

    View Full Text