Marc Tischkowitz

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. pmc Rare germline mutations in PALB2 and breast cancer risk: a population-based study
    Marc Tischkowitz
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
    Hum Mutat 33:674-80. 2012
  2. 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
  3. pmc Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent
    Marc Tischkowitz
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
    BMC Med Genet 14:5. 2013
  4. doi request reprint The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent
    Stephanie Cote
    Service de Médecine Génique, Departement de Medecine, Centre Hospitalier de l Universite de Montreal, Montreal, Canada
    Breast Cancer Res Treat 131:333-40. 2012
  5. pmc DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors
    Thomas Rio Frio
    Program in Cancer Genetics, Department of Oncology, McGill University Health Centre, Montreal, Quebec, Canada
    JAMA 305:68-77. 2011
  6. doi request reprint A survey of APC mutations in Quebec
    Jonathan Jarry
    Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D 112, 3755, Chemin de la Cote Ste Catherine, Montreal, QC H3T 1E2, Canada
    Fam Cancer 10:659-65. 2011
  7. 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
  8. 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
  9. 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
  10. doi request reprint Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families
    Thomas Rio Frio
    Program in Cancer Genetics, Department of Human Genetics and Department of Oncology, McGill University, Montreal, Quebec, Canada
    J Hum Genet 55:842-3. 2010

Collaborators

Detail Information

Publications21

  1. pmc Rare germline mutations in PALB2 and breast cancer risk: a population-based study
    Marc Tischkowitz
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
    Hum Mutat 33:674-80. 2012
    ..Conversely, there is no evidence from this study that rare PALB2 missense mutations strongly influence breast cancer risk...
  2. 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...
  3. pmc Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent
    Marc Tischkowitz
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
    BMC Med Genet 14:5. 2013
    ..Although inherited PALB2 mutations are associated with increased risks of developing breast cancer, risk to ovarian cancer has not been fully explored in this demographically unique population...
  4. doi request reprint The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent
    Stephanie Cote
    Service de Médecine Génique, Departement de Medecine, Centre Hospitalier de l Universite de Montreal, Montreal, Canada
    Breast Cancer Res Treat 131:333-40. 2012
    ....
  5. pmc DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors
    Thomas Rio Frio
    Program in Cancer Genetics, Department of Oncology, McGill University Health Centre, Montreal, Quebec, Canada
    JAMA 305:68-77. 2011
    ..Germline mutations in DICER1, a gene that codes for an RNase III endoribonuclease, have been identified in families affected by pleuropulmonary blastoma (PPB), some of whom include cases of MNG and gonadal tumors such as SLCTs...
  6. doi request reprint A survey of APC mutations in Quebec
    Jonathan Jarry
    Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D 112, 3755, Chemin de la Cote Ste Catherine, Montreal, QC H3T 1E2, Canada
    Fam Cancer 10:659-65. 2011
    ..The absence of founder mutations and the variety of mutations encountered reinforce the value of RNA-based testing and the need for gene dosage techniques such as multiplex ligation-dependent probe amplification...
  7. 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...
  8. 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...
  9. 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...
  10. doi request reprint Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families
    Thomas Rio Frio
    Program in Cancer Genetics, Department of Human Genetics and Department of Oncology, McGill University, Montreal, Quebec, Canada
    J Hum Genet 55:842-3. 2010
    ..Thus, it seems unlikely that any constitutional changes in MRG15 confer an increased risk for breast cancer...
  11. doi request reprint miRNA processing and human cancer: DICER1 cuts the mustard
    Amin Bahubeshi
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec H2W 1S6, Canada
    Sci Transl Med 3:111ps46. 2011
    ..Deciphering of the many links between miRNA processing perturbations and cancer will likely provide insights into mechanisms of cancer control...
  12. doi request reprint Germline DICER1 mutations and familial cystic nephroma
    Amin Bahubeshi
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada
    J Med Genet 47:863-6. 2010
    ..CN is rarely familial or bilateral, but it occurs in about 10% of families where pleuropulmonary blastoma (PPB) is present. Recently, germline mutations in DICER1 were found in familial PPB...
  13. pmc 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
    ....
  14. 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...
  15. 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...
  16. ncbi request reprint Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
    Leora Witkowski
    1 Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada 2 Department of Human Genetics, McGill University, Montreal, Quebec, Canada 3
    Nat Genet 46:438-43. 2014
    ..Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches. ..
  17. doi request reprint Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?
    Hugo Villeneuve
    Department of Radiation Oncology, Centre Hospitalier de l Universite de Montreal, Montreal, QC, Canada
    Fam Cancer 10:691-4. 2011
    ..This is to our knowledge the first case describing an association of ACC of the minor salivary gland with a PTEN-gene related disorder. It emphasizes the importance of head and neck examination in these patients...
  18. 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...
  19. 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
    ....
  20. 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...
  21. ncbi 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...