Alfons Meindl

Summary

Affiliation: Klinikum rechts der Isar
Country: Germany

Publications

  1. ncbi Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
  2. ncbi Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
    Logan C Walker
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 12:R102. 2010
  3. ncbi BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
    Bernd Frank
    Helmholtz University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany
    BMC Cancer 7:83. 2007
  4. ncbi Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study
    Barbara Burwinkel
    Helmholtz University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany
    BMC Cancer 6:268. 2006
  5. ncbi Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
    Alfons Meindl
    Department of Obstetrics and Gynecology, Division of Tumor Genetics, Klinikum rechts der Isar der Technischen Universitaet Muenchen, Munich, Germany
    Nat Genet 42:410-4. 2010
  6. ncbi MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases
    Stefanie Engert
    Department of Obstetrics and Gynecology, Division of Tumor Genetics, Technical University, Munich, Germany
    Hum Mutat 29:948-58. 2008
  7. ncbi Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker
    Ariane Sadr-Nabavi
    Department of Obstetrics and Gynecology, Technische Universitaet Muenchen, Munich, Germany
    Int J Cancer 124:1727-35. 2009
  8. ncbi Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer
    Heide Hellebrand
    Clinic of Gynaecology and Obstetrics, Division of Tumor Genetics, Technische Universitat Munchen, Munich, Germany
    Hum Mutat 32:E2176-88. 2011
  9. ncbi Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy
    Juliane Ramser
    Department of Obstetrics and Gynecology, Technical University Munich, 81675 Munich, Germany
    Am J Hum Genet 82:188-93. 2008
  10. ncbi The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior
    Claus Lenski
    Department of Obstetrics and Gynecology, Technical University, Munich, Germany
    Am J Hum Genet 80:372-7. 2007

Collaborators

  • Nadia Harbeck
  • Helmut Deissler
  • Norbert Arnold
  • Nina Ditsch
  • Frank Wiesmann
  • Razvan T Radulescu
  • Bertram Muller-Myhsok
  • Helmut Hanenberg
  • Gregor Weirich
  • Edgar Dahl
  • Manfred Schmitt
  • Tomohiro Morio
  • Hans D Ochs
  • Rita K Schmutzler
  • Heide Hellebrand
  • Barbara Wappenschmidt
  • Marion Kiechle
  • Juliane Ramser
  • Dieter Niederacher
  • Christian Sutter
  • Stefanie Engert
  • Michael H Albert
  • Eva Gross
  • Claus R Bartram
  • Claus Lenski
  • Bernd Frank
  • Barbara Burwinkel
  • Anna Marie Mulligan
  • Christian F Singer
  • Georgia Chenevix-Trench
  • Fergus J Couch
  • Sylvie Mazoyer
  • Vernon S Pankratz
  • Debra Frost
  • Marcel R Nelen
  • Xianshu Wang
  • Daphne Gschwantler-Kaulich
  • Christoph Engel
  • Per Karlsson
  • Olga M Sinilnikova
  • Heli Nevanlinna
  • Rosemarie Davidson
  • Diana Eccles
  • Ros Eeles
  • Jackie Cook
  • D Gareth Evans
  • Louise Izatt
  • Katherine L Nathanson
  • Tuomas Heikkinen
  • Daniele Muller
  • Amanda B Spurdle
  • Lesley McGuffog
  • Fiona Lalloo
  • Martijn Verheus
  • Susan M Domchek
  • Brita Arver
  • Andrew K Godwin
  • Susan Peock
  • Antonis C Antoniou
  • Tim Rebbeck
  • Jean Pierre Fricker
  • Noralane M Lindor
  • Sue Healey
  • Dominique Stoppa-Lyonnet
  • Douglas F Easton
  • Logan C Walker
  • Karin Kast
  • Ariane Sadr-Nabavi
  • Beate Betz
  • Bernd H Belohradsky
  • Kari Hemminki
  • Vera Binder
  • Marie Stenmark-Askmalm
  • Rosa B Barkardottir
  • Jenny Gross
  • Mark Robson
  • Mark Sherman
  • Maroulio Pertesi
  • Pascaline Berthet
  • Siranoush Manoukian
  • Barbara Pasini
  • Martine Dumont
  • Esther M John
  • Olufunmilayo Olopade
  • Yuan Chun Ding
  • Ute Hamann
  • von Anna Wachenfeldt
  • Wolfram Heinritz
  • Kenneth Offit
  • Torben A Kruse

Detail Information

Publications14

  1. ncbi Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
    ..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
  2. ncbi Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
    Logan C Walker
    Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 12:R102. 2010
    ..In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies...
  3. ncbi BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
    Bernd Frank
    Helmholtz University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany
    BMC Cancer 7:83. 2007
    ..Inactivating and truncating mutations of the nuclear BRCA1-interacting protein 1 (BRIP1) have been shown to be the major cause of Fanconi anaemia and, due to subsequent alterations of BRCA1 function, predispose to breast cancer (BC)...
  4. ncbi Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study
    Barbara Burwinkel
    Helmholtz University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany
    BMC Cancer 6:268. 2006
    ..Genetic alterations in TCF7L2 may therefore affect cancer risk. Recently, TCF7L2 variants, including the microsatellite marker DG10S478 and the nearly perfectly linked SNP rs12233372, were identified to associate with type 2 diabetes...
  5. ncbi Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
    Alfons Meindl
    Department of Obstetrics and Gynecology, Division of Tumor Genetics, Klinikum rechts der Isar der Technischen Universitaet Muenchen, Munich, Germany
    Nat Genet 42:410-4. 2010
    ..These results provide the first unambiguous evidence of highly penetrant mutations associated with human cancer in a RAD51 paralog and support the 'common disease, rare allele' hypothesis...
  6. ncbi MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases
    Stefanie Engert
    Department of Obstetrics and Gynecology, Division of Tumor Genetics, Technical University, Munich, Germany
    Hum Mutat 29:948-58. 2008
    ..In summary, we advise restricting BRCA1 MLPA screening to those subgroups that revealed LGRs and recommend BRCA2 MLPA screening only for families presenting with cooccurrence of female and male breast cancer...
  7. ncbi Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker
    Ariane Sadr-Nabavi
    Department of Obstetrics and Gynecology, Technische Universitaet Muenchen, Munich, Germany
    Int J Cancer 124:1727-35. 2009
    ..Furthermore, these data point towards a possible predictive impact of EFEMP1 expression in primary breast cancer...
  8. ncbi Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer
    Heide Hellebrand
    Clinic of Gynaecology and Obstetrics, Division of Tumor Genetics, Technische Universitat Munchen, Munich, Germany
    Hum Mutat 32:E2176-88. 2011
    ..As PALB2-deficient tumors were shown to be sensitive to Poly(ADP-ribose) Polymerase (PARP) inhibitors, our study has implications for newly developed, favorable treatment options in familial breast cancer...
  9. ncbi Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy
    Juliane Ramser
    Department of Obstetrics and Gynecology, Technical University Munich, 81675 Munich, Germany
    Am J Hum Genet 82:188-93. 2008
    ....
  10. ncbi The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior
    Claus Lenski
    Department of Obstetrics and Gynecology, Technical University, Munich, Germany
    Am J Hum Genet 80:372-7. 2007
    ....
  11. ncbi Immunohistochemical demonstration of the zinc metalloprotease insulin-degrading enzyme in normal and malignant human breast: correlation with tissue insulin levels
    Razvan T Radulescu
    Clinical Research Unit, Department of Obstetrics and Gynecology, Klinikum rechts der Isar, Technical University of Munich, Ismaninger Str 22, D 81675 Munchen, Germany
    Int J Oncol 30:73-80. 2007
    ..Our present report should also provide an experimental starting point towards exploring a potential role of IDE in the control of tumor progression...
  12. ncbi X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options
    Michael H Albert
    Dr von Haunersches Kinderspital, Ludwig Maximilians Universitat, Munich, Germany
    Blood 115:3231-8. 2010
    ..These observations will allow better decision making when considering treatment options for individual patients with XLT...
  13. ncbi Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry
    Eva Gross
    Department of Obstetrics and Gynaecology, Technical University, Munich, Germany
    Hum Mutat 28:303-11. 2007
    ..The size range of DNA fragments amenable to mass spectrometric analysis was effectively tripled to >300 bp by the use of a linear IT and a Taq DNA polymerase cocktail lacking detergents that otherwise adversely affect ESI...
  14. ncbi The genotype of the original Wiskott phenotype
    Vera Binder
    Department of Hematology and Oncology, Dr von Haunersches Children s Hospital, Ludwig Maximilians University, Munich, Germany
    N Engl J Med 355:1790-3. 2006
    ..This mutation is likely to be the hypothesized genotype that caused the severe form of the Wiskott-Aldrich syndrome in the three brothers described by Wiskott...