Nancy Hamel

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. ncbi request reprint Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up data
    John R Goffin
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Cancer 97:527-36. 2003
  2. ncbi request reprint Mixed ovarian germ cell tumor in a BRCA2 mutation carrier
    Nancy Hamel
    Department of Human Genetics and Medicine, SMBD Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    Int J Gynecol Pathol 26:160-4. 2007
  3. pmc How old is this mutation? - a study of three Ashkenazi Jewish founder mutations
    Celia M T Greenwood
    Genetics and Genome Biology, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada
    BMC Genet 11:39. 2010
  4. pmc Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer
    Nancy Hamel
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada
    BMC Med Genet 4:7. 2003
  5. 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
  6. pmc Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women
    David J Novak
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, QC, H2W 1S6, Canada
    BMC Cancer 8:239. 2008
  7. ncbi request reprint The prognostic implication of the basal-like (cyclin E high/p27 low/p53+/glomeruloid-microvascular-proliferation+) phenotype of BRCA1-related breast cancer
    William D Foulkes
    Program in Cancer Genetics and Department of Oncology, Research Institute of the McGill University Health Centre, and Cancer Prevention Centre, Sir M B Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    Cancer Res 64:830-5. 2004
  8. 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
  9. pmc On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
    Nancy Hamel
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada
    Eur J Hum Genet 19:300-6. 2011
  10. 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

Detail Information

Publications31

  1. ncbi request reprint Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up data
    John R Goffin
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Cancer 97:527-36. 2003
    ..The joint effect of both abnormalities has not been studied. The primary objective of this study was to assess the impact of germline BRCA1 mutations and p53 overexpression on survival after 10 years of follow-up...
  2. ncbi request reprint Mixed ovarian germ cell tumor in a BRCA2 mutation carrier
    Nancy Hamel
    Department of Human Genetics and Medicine, SMBD Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    Int J Gynecol Pathol 26:160-4. 2007
    ..This suggests either that biallelic inactivation of BRCA2 is not required for GCT development or that this is a chance event unrelated to the presence of the mutation...
  3. pmc How old is this mutation? - a study of three Ashkenazi Jewish founder mutations
    Celia M T Greenwood
    Genetics and Genome Biology, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada
    BMC Genet 11:39. 2010
    ..1996), and modified slightly by our group. The three mutations analyzed were MSH2*1906 G->C, APC*I1307K, and BRCA2*6174delT...
  4. pmc Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer
    Nancy Hamel
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada
    BMC Med Genet 4:7. 2003
    ..In the Ashkenazi Jewish (AJ) population, the existence of 3 frequent founder mutations, 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 greatly facilitates screening for carriers...
  5. 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...
  6. pmc Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women
    David J Novak
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, QC, H2W 1S6, Canada
    BMC Cancer 8:239. 2008
    ..No founder allele has been specifically identified in the French Canadian population...
  7. ncbi request reprint The prognostic implication of the basal-like (cyclin E high/p27 low/p53+/glomeruloid-microvascular-proliferation+) phenotype of BRCA1-related breast cancer
    William D Foulkes
    Program in Cancer Genetics and Department of Oncology, Research Institute of the McGill University Health Centre, and Cancer Prevention Centre, Sir M B Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    Cancer Res 64:830-5. 2004
    ..Basal breast cancer deserves recognition as an important subtype of breast cancer...
  8. 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...
  9. pmc On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
    Nancy Hamel
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada
    Eur J Hum Genet 19:300-6. 2011
    ....
  10. 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
    ....
  11. 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...
  12. 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.)...
  13. pmc Familial prostate cancer: the damage done and lessons learnt
    Nassim Taherian
    Department of Medical Genetics, Research Institute of McGill University Health Centre, Montreal, QC H3G 1A4, Canada
    Nat Rev Urol 10:116-22. 2013
    ..Genetic evaluation was undertaken in view of his personal and family history. The proband died at the age of 58 years of widespread metastasis...
  14. pmc Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant
    Lili Li
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
    Hum Mutat 30:1543-50. 2009
    ..Such comprehensive functional studies will be important adjuncts to genetic studies of variants...
  15. 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. ..
  16. 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...
  17. 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...
  18. pmc The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations
    Teresa M Rudkin
    Department of Human Genetics, McGill University, Montreal, Canada
    BMC Med Genet 7:15. 2006
    ..We performed haplotype analysis of individuals from breast and ovarian cancer families from four different ethnic backgrounds who had been identified as carriers of the BRCA1: 1135insA mutation...
  19. 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...
  20. ncbi request reprint Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations
    Leanne de Kock
    Department of Human Genetics, McGill University, 845 Rue Sherbrooke Ouest, Montreal, QC, H3A 0G4, Canada
    Acta Neuropathol 128:111-22. 2014
    ..Germ-line DICER1 mutations are a major contributor to PitB. Second somatic DICER1 "hits" occurring within the RNase IIIb domain also appear to be critical in PitB pathogenesis. ..
  21. 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...
  22. doi request reprint Relationship between angiotensin-converting enzyme gene polymorphism and body composition, functional performance, and blood biomarkers in advanced cancer patients
    Antonio Vigano
    McGill Nutrition and Performance Laboratory, McGill University Health Centre, McGill University, Montreal, Canada
    Clin Cancer Res 15:2442-7. 2009
    ....
  23. pmc Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides
    Nelly Sabbaghian
    1 Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada 2 Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada
    Eur J Hum Genet 22:564-7. 2014
    ..3270_4050del; p.Tyr1091Ser*28). Our novel finding of a disease-causing large deletion in DICER1 emphasizes the need to include assays that can detect rearrangements, duplications and deletions in any DICER1 screening protocol...
  24. 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...
  25. doi request reprint A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays
    Ahmet Yilmaz
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    J Hum Genet 55:627-30. 2010
    ....
  26. 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...
  27. doi request reprint Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study
    Shiyu Zhang
    Women s College Research Institute, University Health Network, University of Toronto, Canada
    Cancer Res 68:2154-7. 2008
    ..We estimate that the CHEK2 1100delC allele is associated with an odds ratio of 2.6 for breast cancer, which corresponds to a lifetime risk of approximately 24% in Ontario...
  28. ncbi request reprint [A role for PALB2/FANCN in breast cancer predisposition?]
    Nancy Hamel
    Med Sci (Paris) 24:120-1. 2008
  29. ncbi request reprint BRCA mutations and ductal carcinoma in situ
    William D Foulkes
    JAMA 294:553-4. 2005
  30. ncbi request reprint Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer
    Questa Hope
    Translational Cancer Genetics Team, Section of Cancer Genetics and Urology Unit, Male Urological Centre and Institute of Cancer Research and Royal Marsden NHS Trust, Surrey, United Kingdom
    Cancer Epidemiol Biomarkers Prev 14:397-402. 2005
    ....
  31. ncbi request reprint Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene
    Athena Matakidou
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Carcinogenesis 25:369-73. 2004
    ..2-3.3), respectively. Although the risk of NMTC associated with the TgQ2511R R-allele is modest, its high prevalence in the general population suggests it may make a significant contribution to the incidence of NMTC...