W D Foulkes

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. pmc Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis
    P Minoo
    Department of Pathology, McGill University, Duff Medical Building, 3775 University Street, Montreal, Quebec H3A 2B4, Canada
    Gut 55:1467-74. 2006
  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 Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Breast Cancer Res 14:R42. 2012
  4. pmc CD8+ lymphocyte infiltration is an independent favorable prognostic indicator in basal-like breast cancer
    Shuzhen Liu
    Genetic Pathology Evaluation Centre, Department of Pathology and Laboratory Medicine, University of British Columbia, 2660 Oak Street, Vancouver, BC, V6H 3Z6, Canada
    Breast Cancer Res 14:R48. 2012
  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 Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
    Joan E Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    BMC Med Genet 13:46. 2012
  7. doi request reprint In brief: BRCA1 and BRCA2
    William D Foulkes
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
    J Pathol 230:347-9. 2013
  8. 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
  9. pmc Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient
    Jian Zhang
    Department of Human Genetics, McGill University, Montreal, QC, Canada
    BMC Cancer 13:146. 2013
  10. doi request reprint Epigenetic modification and cancer: mark or stamp?
    William D Foulkes
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Endocr Relat Cancer 19:C23-7. 2012

Detail Information

Publications133 found, 100 shown here

  1. pmc Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis
    P Minoo
    Department of Pathology, McGill University, Duff Medical Building, 3775 University Street, Montreal, Quebec H3A 2B4, Canada
    Gut 55:1467-74. 2006
    ..Sessile serrated adenomas also occur sporadically and appear to be indistinguishable from their counterparts in hyperplastic polyposis...
  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 Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Breast Cancer Res 14:R42. 2012
    ..We present an updated analysis of breastfeeding and risk of breast cancer using a large matched sample of BRCA mutation carriers...
  4. pmc CD8+ lymphocyte infiltration is an independent favorable prognostic indicator in basal-like breast cancer
    Shuzhen Liu
    Genetic Pathology Evaluation Centre, Department of Pathology and Laboratory Medicine, University of British Columbia, 2660 Oak Street, Vancouver, BC, V6H 3Z6, Canada
    Breast Cancer Res 14:R48. 2012
    ..We conducted this study to assess CD8+ (cytotoxic T) lymphocyte infiltration in a large cohort of invasive early stage breast cancers, and to evaluate its prognostic effect in different breast cancer intrinsic subtypes...
  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 Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
    Joan E Bailey-Wilson
    Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA
    BMC Med Genet 13:46. 2012
    ..Current evidence suggests that genetic linkage to prostate cancer has been found on several chromosomes including the X; however, identification of causative genes has been elusive...
  7. doi request reprint In brief: BRCA1 and BRCA2
    William D Foulkes
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
    J Pathol 230:347-9. 2013
    ..The BRCA proteins have many critical functions, the most notable of which, from a clinical perspective, is repair of double-strand DNA breaks...
  8. 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...
  9. pmc Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient
    Jian Zhang
    Department of Human Genetics, McGill University, Montreal, QC, Canada
    BMC Cancer 13:146. 2013
    ..Mutations in BRCA1 and BRCA2 genes are present in at least a fifth of patients. Uncovering other genes that become mutated subsequent to BRCA1/BRCA2 inactivation during cancer development will be helpful for more effective treatments...
  10. doi request reprint Epigenetic modification and cancer: mark or stamp?
    William D Foulkes
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Endocr Relat Cancer 19:C23-7. 2012
    ..Meanwhile, data suggesting an important role of epigenetic modification in the cause, progression and treatment of cancer continues to accumulate...
  11. 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...
  12. pmc Are triple-negative tumours and basal-like breast cancer synonymous?
    Emad A Rakha
    Breast Cancer Res 9:404; author reply 405. 2007
  13. pmc Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers
    Eitan Friedman
    The Suzanne Levy Gertner Oncogenetics Unit, The Chaim Sheba Medical Center, Tel Hashomer, Israel, and the Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Breast Cancer Res 8:R15. 2006
    ....
  14. pmc A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment
    Mark E Robson
    Research Institute of McGill University Health Centre, Cancer Prevention Centre, McGill University, Montreal, Quebec, Canada
    Breast Cancer Res 6:R8-R17. 2004
    ..The prognostic significance of germline mutations in BRCA1 and BRCA2 in women with breast cancer remains unclear. A combined analysis was performed to address this uncertainty...
  15. pmc Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families
    Kathleen K Oros
    Department of Human Genetics, McGill University, Montreal, Canada
    BMC Med Genet 7:23. 2006
    ....
  16. 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...
  17. pmc Qualitative thematic analysis of consent forms used in cancer genome sequencing
    Clarissa Allen
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada
    BMC Med Ethics 12:14. 2011
    ..Such projects raise a number of ethical, legal, and social (ELS) issues that should be considered. In this study, we set out to discover how these issues are being handled across different jurisdictions...
  18. 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...
  19. 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...
  20. 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...
  21. ncbi request reprint Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer
    William D Foulkes
    Program in Cancer Genetics, Department of Oncology and Human Genetics, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada
    J Natl Cancer Inst 95:1482-5. 2003
    ..0, 95% confidence interval = 1.9 to 43; P =.002, two-sided Fisher's exact test). Thus, germline BRCA1 mutations appear to be associated with a distinctive breast cancer phenotype...
  22. ncbi request reprint Disruption of the expected positive correlation between breast tumor size and lymph node status in BRCA1-related breast carcinoma
    William D Foulkes
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    Cancer 98:1569-77. 2003
    ..Therefore, the authors questioned whether the known positive correlation between tumor size and lymph node status also was present in women with BRCA1-related breast carcinomas...
  23. doi request reprint Triple-negative breast cancer
    William D Foulkes
    Departmentof Oncology and Human Genetics, Research Institute of the McGill University Health Centre, and the Lady Davis Institute of the Jewish General Hospital, McGill University, Montreal, QC H2W 1S6, Canada
    N Engl J Med 363:1938-48. 2010
    ..This review focuses on its origin, molecular and clinical characteristics, and treatment...
  24. pmc BRCA1 functions as a breast stem cell regulator
    W D Foulkes
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal General Hospital, QC, Canada
    J Med Genet 41:1-5. 2004
    ..This has implications for the management of carriers of mutations of BRCA1, in part because support for the role of BRCA1 as a stem cell regulator would emphasise the distinct nature of breast cancer related to BRCA1...
  25. ncbi request reprint BRCA1--sowing the seeds crooked in the furrow
    William D Foulkes
    William D Foulkes is in the Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec H2W 1S6, Canada
    Nat Genet 40:8-9. 2008
    ..A new study shows that microdeletions in PTEN, resulting in complete loss of PTEN protein, are signature lesions in these cancers, particularly those arising in BRCA1-mutation carriers...
  26. 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...
  27. ncbi request reprint Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type
    William D Foulkes
    Departments of Oncology, Sir M B Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    Clin Cancer Res 10:2029-34. 2004
    ..The relationship between ER status and other clinical features of hereditary breast cancers has not been well studied...
  28. ncbi request reprint BRCA1 and BRCA2: chemosensitivity, treatment outcomes and prognosis
    William D Foulkes
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada, H2W 1S6
    Fam Cancer 5:135-42. 2006
    ..There are no published prospective studies. It is hoped that, in the near future, randomised controlled trials will be started with the aim of answering these important clinical questions...
  29. doi request reprint Tumor size is an unreliable predictor of prognosis in basal-like breast cancers and does not correlate closely with lymph node status
    William D Foulkes
    Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
    Breast Cancer Res Treat 117:199-204. 2009
    ..Moreover, tumor size is not a strong indicator of prognosis in BLBC...
  30. doi request reprint Tumor size and survival in breast cancer--a reappraisal
    William D Foulkes
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
    Nat Rev Clin Oncol 7:348-53. 2010
    ..These observations have implications for the screening and treatment of breast cancers, particularly for women with basal-like and BRCA1-related breast cancers...
  31. 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...
  32. pmc Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines
    Kevin C H Ha
    Department of Human Genetics, McGill University, Montreal, Quebec, H3A 1B1, Canada
    BMC Med Genomics 4:75. 2011
    ..We sought to identify putative gene fusions in the transcriptomes of these cancers using high-throughput RNA sequencing (RNA-Seq)...
  33. ncbi request reprint Clinically relevant biology of hereditary breast cancer
    William D Foulkes
    Department of Medicine, McGill University, Montreal, Quebec, Canada
    Semin Oncol 34:379-83. 2007
    ..The three main sections are molecular pathology, DNA repair, and finally other functions of the BRCA1 and BRCA2 proteins...
  34. ncbi request reprint The contribution of inherited factors to the clinicopathological features and behavior of breast cancer
    W D Foulkes
    Department of Oncology, McGill University, Montreal, Quebec, Canada
    J Mammary Gland Biol Neoplasia 6:453-65. 2001
    ..Here, we outline some of the clinicopathological features of hereditary breast cancer, discuss the prognostic studies that have been performed, and introduce some possible new research directions...
  35. pmc The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
    W D Foulkes
    Department of Medicine, Sir Mortimer B Davis Jewish General Hospital, Montreal, Quebec, Canada, H3G 1A4
    Am J Hum Genet 71:1395-412. 2002
    ....
  36. ncbi request reprint Of mice and women
    William D Foulkes
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, QC, Canada H3G 1A4
    Cancer Cell 1:11-2. 2002
    ..Transgenic mouse model faithfully reproduces human ovarian carcinoma and offers new opportunities for understanding the natural history of this frequently fatal disease...
  37. pmc Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families
    P N Tonin
    Departments of Human Genetics and Medicine, Division of Medical Genetics, McGill University, Montreal, Quebec, Canada
    Am J Hum Genet 63:1341-51. 1998
    ..The identification of common BRCA1 and BRCA2 mutations will facilitate carrier detection in French Canadian breast cancer and breast/ovarian cancer families...
  38. ncbi request reprint Primary node negative breast cancer in BRCA1 mutation carriers has a poor outcome
    W D Foulkes
    Department of Medicine, Sir M B Davis Jewish General Hospital, Montreal, Quebec, Canada
    Ann Oncol 11:307-13. 2000
    ..The association between BRCA1 germ-line mutations and breast cancer prognosis is controversial. A historical cohort study was designed to determine the prognosis for women with axillary lymph node negative hereditary breast cancer...
  39. doi request reprint The contribution of founder mutations to early-onset breast cancer in French-Canadian women
    P Ghadirian
    Epidemiology Research Unit, Research Centre, Centre Hospitalier de l Universite de Montreal Hotel Dieu, Montreal, Quebec, Canada
    Clin Genet 76:421-6. 2009
    ..It is reasonable to offer screening for founder mutations to all French-Canadian women with breast cancer before age 50. The frequency of these mutations in the general population (0.5%) is too low to advocate population-based screening...
  40. ncbi request reprint Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history
    P N Tonin
    Medical Genetics, Room L10 120, Montreal General Hospital Research Institute, 1650 Cedar Avenue, Montreal, Quebec, H3G 1A4, Canada
    Int J Cancer 95:189-93. 2001
    ..The identification of founder BRCA1 and BRCA2 mutations in young-onset breast cancer cases unselected for family history can facilitate carrier detection when the expected yield of a comprehensive screen may be low...
  41. pmc Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers
    K Metcalfe
    Lawrence S Bloomberg Faculty of Nursing, University of Toronto, Toronto, Canada
    Br J Cancer 104:1384-92. 2011
    ..The objective of this study was to estimate the risk of contralateral breast cancer in BRCA1 and BRCA2 carriers; and measure the extent to which host, family history, and cancer treatment-related factors modify the risk...
  42. ncbi request reprint Prevalence of founder BRCA1 and BRCA2 mutations in unselected French Canadian women with breast cancer
    P O Chappuis
    McGill University Health Centre Research Institute, McGill University, Montreal, Quebec, Canada
    Clin Genet 59:418-23. 2001
    ..The absence of BRCA1 mutations may be a result of chance, but may also reflect different geographical origins of the most common BRCA1 mutations within the French Canadian population...
  43. ncbi request reprint Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent
    K K Oros
    Department of Human Genetics, McGill University, Canada
    Clin Genet 70:320-9. 2006
    ....
  44. pmc The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population
    S Sun
    Department of Statistics, University of Toronto, Ontario, Canada
    J Med Genet 42:766-8. 2005
    ..This study determined that the mutation probably arose between 11 and 22 generations ago, during the time when the Ashkenazim were living in eastern Europe...
  45. ncbi request reprint The influence of familial and hereditary factors on the prognosis of breast cancer
    P O Chappuis
    Department of Medicine, McGill University, Montreal, Quebec, Canada
    Ann Oncol 10:1163-70. 1999
    ..The recent identification of breast cancer predisposing genes has provided new clinical insights in this field...
  46. ncbi request reprint Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families
    Suzanna L Arcand
    The Research Institute of the McGill University Health Centre, Montreal, QC, Canada
    Breast Cancer Res Treat 108:399-408. 2008
    ..In all, germline TP53 mutations were identified in two of 52 (3.8%) cancer families, suggesting that TP53 is not a major contributor to BRCA1 and BRCA2 mutation-negative breast and/or ovarian cancer families of French Canadian descent...
  47. ncbi request reprint E6/E7 proteins of HPV type 16 and ErbB-2 cooperate to induce neoplastic transformation of primary normal oral epithelial cells
    Ala Eddin Al Moustafa
    Lady Davis Institute for Medical Research of the Sir Mortimer B Davis Jewish General Hospital, Department of Medicine, and Center for Translational Research in Cancer, Quebec, Canada
    Oncogene 23:350-8. 2004
    ..This conversion leads to the upregulation of cyclin D1, c-myc and other oncoproteins necessary for alteration of the E-cadherin/catenin complex and cell transformation of NOE cells...
  48. ncbi request reprint Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families
    I Thiffault
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
    Clin Genet 66:137-43. 2004
    ..IVS6 + 3A>G also share a common haplotype, suggesting that, similarly, the latter mutation has a common origin. These mutations are the first putative founder MLH1 mutations to be identified in HNPCC kindred of Italian origin...
  49. pmc The effect of the I1307K APC polymorphism on the clinicopathological features and natural history of breast cancer
    Z Q Yuan
    Department of Medicine, Sir MB Davis Jewish General Hospital, Montreal, Quebec, Canada
    Br J Cancer 81:850-4. 1999
    ..We conclude that the presence of the I1307K polymorphism does not appear to be associated with any particular clinicopathological feature of breast cancer and importantly, does not affect the prognosis...
  50. pmc Familial risks of squamous cell carcinoma of the head and neck: retrospective case-control study
    W D Foulkes
    Department of Medicine, Montreal General Hospital, McGill University, Canada
    BMJ 313:716-21. 1996
    ..To determine the contribution of inheritance to the incidence of squamous cell carcinoma of the head and neck...
  51. ncbi request reprint Clinico-pathological characteristics of BRCA1- and BRCA2-related breast cancer
    P O Chappuis
    Department of Medicine, Montreal General Hospital, McGill University, Montreal, Quebec, Canada
    Semin Surg Oncol 18:287-95. 2000
    ..The probability of finding a BRCA1/2 germ-line mutation is partly determined by these characteristics. In addition, these features will likely influence the behavior of BRCA1/2-related breast cancer...
  52. ncbi request reprint Cyclin E expression in breast cancer: predicting germline BRCA1 mutations, prognosis and response to treatment
    P O Chappuis
    Department of Human Genetics, McGill University, Montreal, QC, Canada
    Ann Oncol 16:735-42. 2005
    ..The relationship between cyclin E/p27(Kip1) levels, BRCA1 status and outcome has not been studied in detail...
  53. ncbi request reprint Risk assessment & genetic testing
    Pierre O Chappuis
    Division of Medical Genetics, Department of Medicine, McGill University Health Center, Montreal, QC, Canada
    Cancer Treat Res 107:29-59. 2002
    ..Predictive oncology is best performed by a dedicated unit with professionals aware of all the issues surrounding genetic testing...
  54. ncbi request reprint Novel genomic insertion-- deletion in MLH1: possible mechanistic role for non-homologous end-joining DNA repair
    S McVety
    Department of Human Genetics, SMBD Jewish General Hospital, McGill University, Quebec, Canada
    Clin Genet 68:234-8. 2005
    ..We propose a mechanism involving non-homologous end joining to explain the occurrence of this complex deletion...
  55. pmc BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder
    I Makriyianni
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    J Med Genet 42:e27. 2005
  56. pmc Rapid progression of prostate cancer in men with a BRCA2 mutation
    S A Narod
    Women s College Research Institute, 790 Bay Street, 7th Floor, Women s College Hospital, University of Toronto, Toronto, Ontario, Canada
    Br J Cancer 99:371-4. 2008
    ..0 years for men with a BRCA1 mutation, and the difference was highly significant (P<0.01). It may be important to develop targeted chemotherapies to treat prostate cancer in men with a BRCA2 mutation...
  57. 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...
  58. pmc Germline truncating mutations in both MSH2 and BRCA2 in a single kindred
    I Thiffault
    Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada
    Br J Cancer 90:483-91. 2004
    ..Additionally, two double heterozygotes did not appear to have a different phenotype than would be expected from the presence of a mutation in each gene alone...
  59. 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
    ....
  60. ncbi request reprint Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations
    Kathleen K Oros
    Department of Human Genetics, McGill University, Montreal, Canada
    Int J Cancer 112:411-9. 2004
    ..001). Our results define a new mutation panel for screening BRCA1/2 mutations and the phenotype of mutation-positive families harboring the common mutations in the French Canadian population...
  61. 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...
  62. ncbi request reprint Smoking and the risk of breast cancer among carriers of BRCA mutations
    Parviz Ghadirian
    Epidemiology Research Unit, Centre Hospitalier del Universite de Montreal Hotel Dieu, Faculty of Medicine, Universite de Montreal, Montreal, Quebec, Canada
    Int J Cancer 110:413-6. 2004
    ..03; 95% CI 0.83 to l.28) or before the first pregnancy (OR = 1.09; 95% CI = 0.90 to 1.33). In conclusion, contrary to our previous report, smoking does not appear to be a risk factor for breast cancer among carriers of BRCA mutations...
  63. pmc Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families
    D J Osher
    Program in Cancer Genetics, Departments of Oncology and Human Genetics, Gerald Bronfman Centre for Clinical Research in Oncology, McGill University, Montreal, Quebec, Canada
    Br J Cancer 106:1460-3. 2012
    ..We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families...
  64. pmc An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling
    K A Metcalfe
    Centre for Research in Women s Health, University of Toronto, 790 Bay Street, Suite 750A, Toronto, Ontario M5G 1N8, Canada
    J Med Genet 37:866-74. 2000
    ..This is the first study to report on a large group of women who have received positive BRCA1/2 mutation results...
  65. doi request reprint Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutation
    K A Metcalfe
    Lawrence S Bloomberg Faculty of Nursing, University of Toronto, Toronto, Ontario, Canada
    Clin Genet 73:474-9. 2008
    ..49, p = 0.0004). Among women with a BRCA1 or BRCA2 mutation, family history predicts the uptake of prophylactic mastectomy and prophylactic oophorectomy...
  66. ncbi request reprint The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing alone
    Susan McVety
    Department of Human Genetics, McGill University, Canada
    Fam Cancer 5:21-8. 2006
    ..The third is a large deletion in MSH2 that could not be detected by PTT because of its location relative to the primers used to amplify the cDNA, or by sequencing. This mutation was detected by MLPA...
  67. 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...
  68. ncbi request reprint Increased risk for nonmedullary thyroid cancer in the first degree relatives of prevalent cases of nonmedullary thyroid cancer: a hospital-based study
    T Pal
    Center for Research in Women's Health, Sunnybrook and Women's College Health Sciences Center, Toronto, Ontario, Canada M5G 1N8
    J Clin Endocrinol Metab 86:5307-12. 2001
    ..2-47.6). Our findings suggest that hereditary or other familial factors are important in a small proportion of NMTC. Molecular studies are needed to determine the genetic basis of cancer susceptibility in these families...
  69. pmc Breast, ovarian, and endometrial malignancies in systemic lupus erythematosus: a meta-analysis
    S Bernatsky
    Division of Rheumatology, McGill University Health Centre, Montreal, QC, Canada
    Br J Cancer 104:1478-81. 2011
    ..Less attention has been focused on women's cancers, even though SLE affects mostly females. Our objective was to estimate the risk of breast, ovarian, and endometrial cancers in SLE, relative to the general population...
  70. ncbi request reprint Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome
    I Thiffault
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Am J Med Genet A 130:123-7. 2004
    ..No intra-exonic mutations were identified, indicating that neither PTEN nor GPC3 are likely to have major roles in the etiology of Proteus syndrome in our series of patients...
  71. pmc MDM2 overexpression is rare in ovarian carcinoma irrespective of TP53 mutation status
    W D Foulkes
    Department of Medicine, Montreal General Hospital, QC, Canada
    Br J Cancer 72:883-8. 1995
    ....
  72. ncbi request reprint Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins
    N Ah Mew
    Division of Medical Genetics, Department of Medicine, McGill University, Montreal, Quebec, Canada
    Clin Genet 62:151-6. 2002
    ....
  73. ncbi request reprint Transforming growth factor-beta pathway disruption and infiltration of colorectal cancers by intraepithelial lymphocytes
    K Baker
    Department of Pathology, SMBD Jewish General Hospital, Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
    Histopathology 49:371-80. 2006
    ..The present study aimed to explore whether such refractoriness to TGF-beta is an independently contributing factor to IEL retention...
  74. ncbi request reprint E6/E7 of HPV type 16 promotes cell invasion and metastasis of human breast cancer cells
    Amber Yasmeen
    Program in Cancer Genetics, Oncology Department, McGill University, Montreal, Quebec, Canada
    Cell Cycle 6:2038-42. 2007
    ..These data suggest that high-risk HPV infections can induce cell invasion and metastasis in breast cancer through Id-1 regulation...
  75. 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...
  76. 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...
  77. 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...
  78. ncbi request reprint The role of genetic factors in the etiology of pancreatic adenocarcinoma: an update
    P O Chappuis
    Division of Medical Genetics, Department of Medicine, McGill University, Montreal General Hospital, Montreal, QC, Canada
    Cancer Invest 19:65-75. 2001
    ..The real challenge for the management of high risk patients is to develop new screening methods than can identify pre-neoplastic or early neoplastic lesions in a timely manner...
  79. 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
    ....
  80. doi request reprint MSI-H colorectal cancers preferentially retain and expand intraepithelial lymphocytes rather than peripherally derived CD8+ T cells
    Kristi Baker
    Department of Pathology, McGill University, Montreal, QC, Canada
    Cancer Immunol Immunother 58:135-44. 2009
    ..These results suggest that the abundant iTILs present in MSI-H CRCs result from expansion of the preexisting mucosal IEL population and imply a limited prognostic role for iTILs in MSI-H CRC...
  81. doi request reprint Synchronous occult cancers of the endometrium and fallopian tube in an MSH2 mutation carrier at time of prophylactic surgery
    Laura Palma
    Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada
    Gynecol Oncol 111:575-8. 2008
    ..Women with Lynch syndrome have a 40 to 60% lifetime risk of endometrial cancer and a 10 to 12% lifetime risk of ovarian cancer and may consider prophylactic gynecological surgery as an option for risk reduction...
  82. ncbi request reprint Cyclin D1 is essential for neoplastic transformation induced by both E6/E7 and E6/E7/ErbB-2 cooperation in normal cells
    Ala Eddin Al Moustafa
    Program in Cancer Genetics, McGill University, Montreal, Quebec, Canada
    Oncogene 23:5252-6. 2004
    ..Our data suggest that anti-cyclin D1 therapy may be highly specific in the treatment of all human cancers expressing high-risk HPVs or HPVs/ErbB-2...
  83. ncbi request reprint Challenges to cancer control by screening
    Michael N Pollak
    Programs of Cancer Prevention and Cancer Genetics, McGill University, Montreal, Quebec, Canada H3T 1E2
    Nat Rev Cancer 3:297-303. 2003
    ..What are these biological issues, and what challenges do clinicians face in screening for common cancers?..
  84. 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...
  85. ncbi request reprint Sonographic features of breast carcinoma presenting as masses in BRCA gene mutation carriers
    Benoit Mesurolle
    Cedar Breast Clinic, Department of Radiology, McGill University Health Center, Royal Victoria Hospital, Montreal, Quebec, Canada
    J Ultrasound Med 26:817-24. 2007
    ..The purpose of this study was to review the sonographic features of breast cancer gene BRCA1- and BRCA2-associated breast carcinomas in comparison with "sporadic" breast carcinomas and benign breast masses...
  86. 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...
  87. ncbi request reprint BRCA2: breaks, mistakes and failed separations
    Teresa M Rudkin
    Department of Human Genetics, McGill University, 2300 Tupper Street, A620, Montreal, H3H 1P3, Canada
    Trends Mol Med 11:145-8. 2005
    ..Other groups have also shown how BRCA2, RAD51 and DSS1 co-exist in a ménage à trois and how the disruption of any one of the three cohabitants can have disastrous consequences for the cell...
  88. pmc DICER1 hotspot mutations in non-epithelial gonadal tumours
    L Witkowski
    1 Department of Oncology and Human Genetics, Program in Cancer Genetics, McGill University, Montreal, Quebec, Canada 2 Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada 3 Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Br J Cancer 109:2744-50. 2013
    ..Specific somatic mutations in DICER1, a microRNA maturation pathway gene, have been identified in these tumours. We conducted a study that aimed to confirm, refine and extend the previous observations...
  89. pmc No association between P53 codon 72 polymorphism and risk of squamous cell carcinoma of the head and neck
    N Hamel
    Montreal General Hospital Research Institute, Quebec, Canada
    Br J Cancer 82:757-9. 2000
    ..50). No significant differences in allele frequencies were observed when the data were stratified by tobacco exposure or by cancer site. These findings suggest a limited role, if any, for this P53 polymorphism in SCCHN...
  90. doi request reprint Eleven years disease-free: role of chemotherapy in metastatic BRCA2-related breast cancer
    Fleur Huang
    Radiation Oncology Program, Department of Oncology, McGill University, Montreal, QC, Canada
    Nat Rev Clin Oncol 6:488-92. 2009
    ..Complete clinical and radiologic remission has been maintained in the 11 years since study enrolment, which prompted further investigation...
  91. ncbi request reprint Fallopian tube cancer in a BRCA1 mutation carrier: rapid development and failure of screening
    Marie Noël Hébert-Blouin
    Department of Medicine, McGill University Health Centre, McGill University, Montreal, Quebec, Canada
    Am J Obstet Gynecol 186:53-4. 2002
    ..The notable feature of this case was the extremely rapid growth of the cancer, which precluded early diagnosis. Preventive gynecologic surgery in BRCA1/2 mutation carriers should probably always include bilateral salpingectomy...
  92. ncbi request reprint p53--master and commander
    William D Foulkes
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal
    N Engl J Med 357:2539-41. 2007
  93. ncbi request reprint Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms
    Zi Qiang Yuan
    Lady Davis Institute for Medical Research, Sir Mortimer B Davis Jewish General Hospital, Montreal, Quebec, Canada
    Hum Mutat 19:108-13. 2002
    ..This study is one of the first to use a functional assay to appraise the role of SNPs and suggests that traditional definitions of polymorphisms and mutations are in need of reconsideration...
  94. ncbi request reprint Tumor buds show reduced expression of laminin-5 gamma 2 chain in DNA mismatch repair deficient colorectal cancer
    Eiji Shinto
    Department of Pathology, McGill University, Montreal, Canada
    Dis Colon Rectum 49:1193-202. 2006
    ..It is hypothesized that tumor budding in this subset may lack biologic aggressiveness because it is not associated with aberrant expression of the independent prognostic factor, laminin-5 gamma 2...
  95. 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...
  96. doi request reprint Biallelic DICER1 mutations occur in Wilms tumours
    M K Wu
    Department of Medical Genetics, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, QC, Canada
    J Pathol 230:154-64. 2013
    ..This study has demonstrated that a subset of WTs exhibits two 'hits' in DICER1, suggesting that these mutations could be key events in the pathogenesis of these tumours...
  97. ncbi request reprint The polymorphic CAG repeat of the androgen receptor gene: a potential role in breast cancer in women over 40
    Y A Elhaji
    Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, Montreal, Quebec, Canada
    Breast Cancer Res Treat 70:109-16. 2001
    ..Whether this shift is of germline or somatic origin was not clear, though the appearance in 14% of the BC samples of a third CAG-repeat length indicates that it may be somatic...
  98. ncbi request reprint Is there a correlation between the structure of hair and breast cancer or BRCA1/2 mutations?
    Khalid Laaziri
    Centre for the Physics of Materials, and Department of Physics, McGill University, Montreal, Quebec, Canada
    Phys Med Biol 47:1623-32. 2002
    ..The possible use of SAXS to diagnose cancer remains conjectural, but this and previous studies do not suggest that SAXS can be used as a reliable method of identifying either BRCA1/2 mutation carriers or women who have had breast cancer...
  99. 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...
  100. ncbi request reprint Risk of pancreatic cancer among individuals with a family history of cancer of the pancreas
    Parviz Ghadirian
    Centre de Recherche, CHUM Hotel Dieu, Montreal, Quebec, Canada
    Int J Cancer 97:807-10. 2002
    ..Familial site-specific pancreatic cancer appears to be a distinct genetic entity, but contributes only modestly to the total burden of pancreatic cancer...
  101. ncbi request reprint Identification of genes associated with head and neck carcinogenesis by cDNA microarray comparison between matched primary normal epithelial and squamous carcinoma cells
    Ala Eddin Al Moustafa
    Lady Davis Institute for Medical Research of the Sir Mortimer B Davis Jewish General Hospital, Department of Medicine, McGill Center for Translational Research in Cancer, 3755, Ch de la Cote Ste Catherine, Montreal, Quebec, Canada H3T 1E2
    Oncogene 21:2634-40. 2002
    ..These findings provide a large body of information regarding gene expression profiles associated with head and neck carcinogenesis, and also represent a source of potential targets for HNSCC prevention and/or therapeutics...