Research Topics
Species | Marc D TischkowitzSummaryAffiliation: McGill University Country: Canada Publications
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Detail Information
Publications
A PALB2 mutation associated with high risk of breast cancerMelissa 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...- Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian womenWilliam 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... - Cancer incidence in relatives of British Fanconi Anaemia patientsMarc 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.... - PALB2/FANCN: recombining cancer and Fanconi anemiaMarc 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... - Use of immunohistochemical markers can refine prognosis in triple negative breast cancerMarc 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... 
The basal phenotype of BRCA1-related breast cancer: past, present and futureMarc D Tischkowitz
Cancer Prevention Centre, Sir M B Davis Jewish General Hospital, McGill University, Montreal, QC, Canada
Cell Cycle 5:963-7. 2006....
Using mouse models to investigate the biological and physiological consequences of defects in the Fanconi anaemia/breast cancer DNA repair signalling pathwayMarc 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...- Analysis of PALB2/FANCN-associated breast cancer familiesMarc 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... - Hereditary breast cancer: new genetic developments, new therapeutic avenuesPhilippe 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... - Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancerMarc 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... - Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumoursNelly 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... - Extending the phenotypes associated with DICER1 mutationsWilliam 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... - Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer casesDavid 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... - Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasiaThomas 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.)... - High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome familiesGeorge 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... - Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approachMarc Tischkowitz
Department of Oncology, McGill University, Montreal, Quebec, Canada
Eur J Hum Genet 16:820-32. 2008.... - Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancerMarc 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... - A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from SpainElsa 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... - The tale of a nail sign in chromosome 4q34 deletion syndromeJulie 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... - Medulloblastoma as a first presentation of fanconi anemiaMarc 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...