Marc D Tischkowitz

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. pmc A PALB2 mutation associated with high risk of breast cancer
    Melissa C Southey
    Department of Pathology, The University of Melbourne, Victoria 3010, Australia
    Breast Cancer Res 12:R109. 2010
  2. pmc Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women
    William D Foulkes
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, 546 Pine Ave West, Montreal, QC, Canada H2W 1S6
    Breast Cancer Res 9:R83. 2007
  3. pmc Cancer incidence in relatives of British Fanconi Anaemia patients
    Marc Tischkowitz
    Cancer Genetics Program, Departments of Human Genetics and Oncology, Sir M B Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    BMC Cancer 8:257. 2008
  4. pmc PALB2/FANCN: recombining cancer and Fanconi anemia
    Marc Tischkowitz
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Cancer Res 70:7353-9. 2010
  5. pmc Use of immunohistochemical markers can refine prognosis in triple negative breast cancer
    Marc Tischkowitz
    Program in Cancer Genetics, McGill University, Montreal, Quebec, Canada
    BMC Cancer 7:134. 2007
  6. doi request reprint Using mouse models to investigate the biological and physiological consequences of defects in the Fanconi anaemia/breast cancer DNA repair signalling pathway
    Marc Tischkowitz
    McGill Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Canada
    J Pathol 224:301-5. 2011
  7. ncbi request reprint The basal phenotype of BRCA1-related breast cancer: past, present and future
    Marc D Tischkowitz
    Cancer Prevention Centre, Sir M B Davis Jewish General Hospital, McGill University, Montreal, QC, Canada
    Cell Cycle 5:963-7. 2006
  8. pmc Analysis of PALB2/FANCN-associated breast cancer families
    Marc Tischkowitz
    Program in Cancer Genetics, Departments of Oncology and Human Genetics and Departments of Medicine and Human Genetics, McGill University, Montreal, QC, Canada
    Proc Natl Acad Sci U S A 104:6788-93. 2007
  9. pmc Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours
    Nelly Sabbaghian
    Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
    BMC Res Notes 6:127. 2013
  10. doi request reprint Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again
    Leora Witkowski
    Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
    J Pathol 231:35-43. 2013

Collaborators

Detail Information

Publications21

  1. pmc A PALB2 mutation associated with high risk of breast cancer
    Melissa C Southey
    Department of Pathology, The University of Melbourne, Victoria 3010, Australia
    Breast Cancer Res 12:R109. 2010
    ..Little is known about by how much or whether risk differs by mutation or family history, owing to the paucity of studies of cases unselected for family history...
  2. pmc Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women
    William D Foulkes
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, 546 Pine Ave West, Montreal, QC, Canada H2W 1S6
    Breast Cancer Res 9:R83. 2007
    ..We sought to estimate the contribution of PALB2 mutations to the burden of breast cancer in French Canadians from Quebec...
  3. pmc Cancer incidence in relatives of British Fanconi Anaemia patients
    Marc Tischkowitz
    Cancer Genetics Program, Departments of Human Genetics and Oncology, Sir M B Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    BMC Cancer 8:257. 2008
    ....
  4. pmc PALB2/FANCN: recombining cancer and Fanconi anemia
    Marc Tischkowitz
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Cancer Res 70:7353-9. 2010
    ..Here, we summarize the molecular functions and clinical phenotypes of this key DNA repair pathway component and discuss how its discovery has advanced our knowledge of both FA and adult cancer predisposition...
  5. pmc Use of immunohistochemical markers can refine prognosis in triple negative breast cancer
    Marc Tischkowitz
    Program in Cancer Genetics, McGill University, Montreal, Quebec, Canada
    BMC Cancer 7:134. 2007
    ..The IHC pattern that best defines basal-like tumors is under investigation and various combinations of ER, PR, HER2-, CK5/6+ and EGFR+ have been tested...
  6. doi request reprint Using mouse models to investigate the biological and physiological consequences of defects in the Fanconi anaemia/breast cancer DNA repair signalling pathway
    Marc Tischkowitz
    McGill Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Canada
    J Pathol 224:301-5. 2011
    ..Given the pivotal role of the PALB2 protein, which interacts with both BRCA1 and BRCA2, these mice provide valuable insights into the FA phenotype and mechanisms of tumourigenesis caused by disruption of the FA protein network...
  7. ncbi request reprint The basal phenotype of BRCA1-related breast cancer: past, present and future
    Marc D Tischkowitz
    Cancer Prevention Centre, Sir M B Davis Jewish General Hospital, McGill University, Montreal, QC, Canada
    Cell Cycle 5:963-7. 2006
    ....
  8. pmc Analysis of PALB2/FANCN-associated breast cancer families
    Marc Tischkowitz
    Program in Cancer Genetics, Departments of Oncology and Human Genetics and Departments of Medicine and Human Genetics, McGill University, Montreal, QC, Canada
    Proc Natl Acad Sci U S A 104:6788-93. 2007
    ..The apparently high penetrance noted in this study suggests that at least some PALB2 mutations are associated with a substantially increased risk for the disease...
  9. pmc Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours
    Nelly Sabbaghian
    Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
    BMC Res Notes 6:127. 2013
    ..To further explore the importance of DICER1 mutations in the etiology of testicular germ cell tumors (TGCT), we studied germ-line DNA samples from 43 probands diagnosed with familial TGCT...
  10. doi request reprint Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again
    Leora Witkowski
    Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
    J Pathol 231:35-43. 2013
    ..This is the earliest known case of rhabdoid tumour predisposition syndrome type 2 and the first described case with an autosomal dominant pattern of inheritance, only discovered through an exome sequencing project...
  11. doi request reprint Hereditary breast cancer: new genetic developments, new therapeutic avenues
    Philippe M Campeau
    Department of Medical Genetics, McGill University Health Centre, McGill University, Montreal, QC, Canada
    Hum Genet 124:31-42. 2008
    ..Gaining deeper insights in breast cancer susceptibility will improve our ability to identify those families at increased risk and permit the development of new and more specific therapeutic approaches...
  12. pmc Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer
    Marc Tischkowitz
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, QC, Canada
    Prostate 68:675-8. 2008
    ..This functional relationship made PALB2 a candidate PRCA susceptibility gene...
  13. doi request reprint Extending the phenotypes associated with DICER1 mutations
    William D Foulkes
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada
    Hum Mutat 32:1381-4. 2011
    ..DICER1 appears to be the first gene implicated in the etiology of cERMS, cPNET, and PS. Young adulthood sarcomas and perhaps congenital malformations such as TGA may also be associated...
  14. doi request reprint Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases
    David J Novak
    Departments of Oncology and Human Genetics, Program in Cancer Genetics, McGill University, Montreal, QC, Canada H2W 1S6
    Breast Cancer Res Treat 117:453-9. 2009
    ..Conclusions Overall, it seems unlikely that moderate to highly penetrant alleles of either RAP80 or Abraxas, confer a significantly high relative risk of breast cancer...
  15. doi request reprint Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia
    Thomas Rio Frio
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, QC, Canada
    N Engl J Med 363:2628-37. 2010
    ..Funded by the Turner Family Cancer Research Fund and others.)...
  16. doi request reprint Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach
    Marc Tischkowitz
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Eur J Hum Genet 16:820-32. 2008
    ....
  17. doi request reprint High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families
    George Chong
    Departments of Medical Genetics and Oncology, Cancer Prevention Centre, Jewish General Hospital, Montreal, Quebec H3T 1E2, Canada
    Hum Mutat 30:E797-812. 2009
    ..Fifteen of the 29 (52%) families carried one of these five putative founder mutations. These findings may simplify genetic testing for Lynch syndrome in French Canadians...
  18. pmc Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer
    Marc D Tischkowitz
    Department of Oncology and Medical Genetics, Cancer Prevention Centre, E740, Sir MB Davis Jewish General Hospital, McGill University, Montreal, QC, Canada
    Cancer Lett 270:173-80. 2008
    ..Although we cannot rule out a subtle influence of the CHEK2 variants on PRCA risk, these results suggest that germline CHEK2 mutations have a minor role in, if any, PRCA susceptibility in AJ men...
  19. ncbi request reprint A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain
    Elsa Callen
    Universitat Autònoma de Barcelona and the Hospital Meterno Infantil Vall d Hebron, Barcelona, Spain
    Blood 105:1946-9. 2005
    ..The high carrier frequency makes the Spanish Gypsies a population model to study FA heterozygote mutations in cancer...
  20. ncbi request reprint The tale of a nail sign in chromosome 4q34 deletion syndrome
    Julie Vogt
    Clinical Genetics Unit, Birmingham Women s Hospital, Edgbaston, West Midlands, UK
    Clin Dysmorphol 15:127-32. 2006
    ..All cases with this characteristic fifth finger anomaly appear to have deletions involving 4q34...
  21. ncbi request reprint Medulloblastoma as a first presentation of fanconi anemia
    Marc D Tischkowitz
    Clinical Genetics Unit, Institute of Child Health, Great Ormond Street Hospital, London, United Kingdom
    J Pediatr Hematol Oncol 26:52-5. 2004
    ..The authors discuss diagnostic and therapeutic implications for such malignancies in Fanconi anemia...