Literature DB >> 11139324

Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites.

K Rapakko1, M Allinen, K Syrjäkoski, P Vahteristo, P Huusko, K Vähäkangas, H Eerola, T Kainu, O P Kallioniemi, H Nevanlinna, R Winqvist.   

Abstract

We have screened for germline TP53 mutations in Finnish BRCA1 and BRCA2 mutation-negative families. This study represents the largest survey of the entire protein-encoding portion of TP53, and indicates that mutations are only found at conserved domains in breast cancer families also meeting the criteria for Li-Fraumeni/Li-Fraumeni-like syndrome, explaining only a very small additional fraction of the hereditary breast cancer cases. Copyright 2001 Cancer Research Campaign.

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Year:  2001        PMID： 11139324      PMCID： PMC2363618          DOI： 10.1054/bjoc.2000.1530

Source DB:  PubMed          Journal:  Br J Cancer        ISSN： 0007-0920            Impact factor:   7.640


  12 in total

1.  Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk.

Authors:  Shih-Jen Hwang; Guillermina Lozano; Christopher I Amos; Louise C Strong
Journal:  Am J Hum Genet       Date:  2003-02-27       Impact factor: 11.025

Review 2.  Genetics of breast cancer: a topic in evolution.

Authors:  S Shiovitz; L A Korde
Journal:  Ann Oncol       Date:  2015-01-20       Impact factor: 32.976

3.  Mutation analysis of the AATF gene in breast cancer families.

Authors:  Maria Haanpää; Mervi Reiman; Jenni Nikkilä; Hannele Erkko; Katri Pylkäs; Robert Winqvist
Journal:  BMC Cancer       Date:  2009-12-21       Impact factor: 4.430

4.  p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma.

Authors:  Lucja Fiszer-Maliszewska; Bernarda Kazanowska; Joanna Padzik
Journal:  Fam Cancer       Date:  2009       Impact factor: 2.375

5.  Familial breast cancer screening reveals an alteration in the RAP80 UIM domain that impairs DNA damage response function.

Authors:  J Nikkilä; K A Coleman; D Morrissey; K Pylkäs; H Erkko; T E Messick; S-M Karppinen; A Amelina; R Winqvist; R A Greenberg
Journal:  Oncogene       Date:  2009-03-23       Impact factor: 9.867

6.  Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.

Authors:  Amanda Gonçalves Silva; Ingrid Petroni Ewald; Marina Sapienza; Manuela Pinheiro; Ana Peixoto; Amanda França de Nóbrega; Dirce M Carraro; Manuel R Teixeira; Patricia Ashton-Prolla; Maria Isabel W Achatz; Carla Rosenberg; Ana C V Krepischi
Journal:  BMC Cancer       Date:  2012-06-12       Impact factor: 4.430

7.  Apocrine-eccrine carcinomas: molecular and immunohistochemical analyses.

Authors:  Long P Le; Dora Dias-Santagata; Amanda C Pawlak; Arjola K Cosper; Anh Thu Nguyen; M Angelica Selim; April Deng; Nora K Horick; A John Iafrate; Martin C Mihm; Mai P Hoang
Journal:  PLoS One       Date:  2012-10-09       Impact factor: 3.240

8.  Mutation analysis of the ATR gene in breast and ovarian cancer families.

Authors:  Katri Heikkinen; Virpi Mansikka; Sanna-Maria Karppinen; Katrin Rapakko; Robert Winqvist
Journal:  Breast Cancer Res       Date:  2005-05-06       Impact factor: 6.466

9.  Mutation analysis of the CHK2 gene in families with hereditary breast cancer.

Authors:  M Allinen; P Huusko; S Mäntyniemi; V Launonen; R Winqvist
Journal:  Br J Cancer       Date:  2001-07-20       Impact factor: 7.640

10.  Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.

Authors:  Tuomo Mantere; Robert Winqvist; Saila Kauppila; Mervi Grip; Arja Jukkola-Vuorinen; Anna Tervasmäki; Katrin Rapakko; Katri Pylkäs
Journal:  PLoS Genet       Date:  2016-01-28       Impact factor: 5.917
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