Research Topics
Genomes and GenesSpecies | Nancy HamelSummaryAffiliation: McGill University Country: Canada Publications
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Detail Information
Publications
Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up dataJohn 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...- Mixed ovarian germ cell tumor in a BRCA2 mutation carrierNancy 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... 
How old is this mutation? - a study of three Ashkenazi Jewish founder mutationsCelia 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...- Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancerNancy 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... - Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian womenDavid 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... - The prognostic implication of the basal-like (cyclin E high/p27 low/p53+/glomeruloid-microvascular-proliferation+) phenotype of BRCA1-related breast cancerWilliam 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... - DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumorsThomas 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... 
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....- On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populationsNancy Hamel
Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada
Eur J Hum Genet 19:300-6. 2011.... - 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... - 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.)... - Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variantLili 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... - 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... - The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populationsTeresa 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... - 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... - Germline DICER1 mutations and familial cystic nephromaAmin 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... - Relationship between angiotensin-converting enzyme gene polymorphism and body composition, functional performance, and blood biomarkers in advanced cancer patientsAntonio Vigano
McGill Nutrition and Performance Laboratory, McGill University Health Centre, McGill University, Montreal, Canada
Clin Cancer Res 15:2442-7. 2009.... - 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... - A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarraysAhmet Yilmaz
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
J Hum Genet 55:627-30. 2010.... - 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... - BRCA mutations and ductal carcinoma in situWilliam D Foulkes
JAMA 294:553-4. 2005 - [A role for PALB2/FANCN in breast cancer predisposition?]Nancy Hamel
Med Sci (Paris) 24:120-1. 2008 - Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international studyShiyu 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... - Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancerQuesta 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.... - Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin geneAthena 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...