2007/2008 Publications Page

Amre, D.K., D. Mack, D. Israel, K. Morgan, P. Lambrette, L. Law, G. Grimard, C. Deslandres, A. Krupoves, V. Bucionis, I. Costea, V. Bissonauth, H. Feguery, S. D'Souza, E. Levy, and E.G. Seidman: Association between genetic variants in the IL-23R gene and early-onset Crohn's disease: Results from a case-control and family-based study among Canadian children. Am. J. of Gastroenterol. 103:615-620, 2008

Amre, D.K., S. D'Souza, K. Morgan, G. Seidman, P. Lambrette, G. Grimard, D. Israel, D. Mack, P. Ghadirian, C. Deslandres, V. Chotard, B. Budai, L. Law, E. Levy, and E.G. Seidman: Imbalances in dietary consumption of fatty acids, vegetables, and fruits are associated with risk for Crohn's disease in children. Am. J. of Gastroenterol. 102:2016-2025, 2007. Erratum in: Am. J. of Gastroenterol. 102:2614, 2007

Apicella C, Dowty J, Dite G, Jenkins M, Senie R, Daly M, Andrulis I, John E, Buys S, Li F, Glendon G, Chung W, Ozcelik H, Miron A, Kotar K, Southey M, Foulkes WD, Hopper J. Validation study of the lambda model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women. Clin Genet. 72:87-97, 2007.

Arcand SL, Maugard CM, Ghadirian P, Robidoux A, Perret C, Zhang P, Fafard E, Mes-Masson AM, Foulkes WD, Provencher D, Narod SA, Tonin PN. 2008. Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families. Breast Cancer Res Treat. 108:399-408.

Birch AH, Quinn CJ, Filali-Mouhim A, Provencher DM, Mes-Masson A-M, Tonin PN. 2008. Transcriptome analysis of serous ovarian cancers identifies differentially expressed chromosome 3 genes. Molec Carcinogen 47:56-65

Boycott, K.M., J.S. Parboosingh, J.N. Scott, D.R. McLeod, C.R. Greenberg, T.M. Fujiwara, J.K. Mah, J. Midgley, A. Wade, F.P. Bernier, B.N. Chodirker, M. Bunge, and A.M. Innes: Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. Am. J. of Med. Genet. Part A 143A:1715-1725, 2007

Camp NJ, Cannon-Albright LA, Farnham JM, Baffoe-Bonnie AB, George A, Powell I, Bailey-Wilson JE, Carpten JD, Giles GG, Hopper JL, Severi G, English DR, Foulkes WD, Maehle L, Moller P, Eeles R, Easton D, Badzioch MD, Whittemore AS, Oakley-Girvan I, Hsieh CL, Dimitrov L, Xu J, Stanford JL, Johanneson B, Deutsch K, McIntosh L, Ostrander EA, Wiley KE, Isaacs SD, Walsh PC, Thibodeau SN, McDonnell SK, Hebbring S, Schaid DJ, Lange EM, Cooney KA, Tammela TL, Schleutker J, Paiss T, Maier C, Grönberg H, Wiklund F, Emanuelsson M, Isaacs WB. Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics. Hum Mol Genet, 16:1271-8, 2007.

Cavallone L, Arcand SL, Maugard C, Ghadirian P, Mes-Masson A-M, Provencher D. Tonin PN. 2008. Haplotype analysis of TP53 polymorphisms, Arg72Pro and Ins16, in BRCA1 and BRCA2 mutation carriers of French Canadian descent. BMC Cancer 8:96

Coelho D, Suormala T, Stucki M, Lerner-Ellis J, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Gene identification and mutations of the cblD defect of vitamin B12 metabolism: one gene three phenotypes. N Engl J Med 358: 1454-1464, 2008.

D’Souza, S., E. Levy, D. Mack, D. Israel, P. Lambrette, P. Ghadirian, C. Deslandres, K. Morgan, E.G. Seidman, and D.K. Amre: Dietary patterns and risk for Crohn’s disease in children. Inflammatory Bowel Diseases 14:367-373, 2008

Engert, J.C., M. Lemire, J. Faith, D. Brisson, T.M. Fujiwara, N.M. Roslin, C.G. Brewer, A. Montpetit, C. Darmond-Zwaig, Y. Renaud, C. Doré, S.D. Bailey, A. Verner, G. Tremblay, J. St-Pierre, C. Bétard, J. Platko, J.D. Rioux, K. Morgan, T.J. Hudson, and D. Gaudet: Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population. Eur. J. of Hum. Genet. 16:105-114, 2008

Foulkes WD. BRCA1-sowing the seeds crooked in the furrow. Nat Genet., 40:8-9, 2008.

Foulkes WD. Clinically relevant biology of hereditary breast cancer. Semin Oncol. 34:379-83, 2007.

Foulkes WD. P53-master and commander. N Engl J Med., 357:2539-41, 2007.

Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, Darne Al, Royer R, Pol Al, Farfad E, Robidoux A, Martin G, Bisma TA, Tischkowitz M, Rousseau F and Narod SA. Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French Canadian women. Breast Cancer Res., 9, (6) R83, 2007.

Georgitsi M, Raitila A, Karhu A, van der Luijt RB, Aalfs CM, Sane T, Vierimaa O, Makinen MJ, Tuppurainen K, Paschke R, Gimm O, Koch CA, Gundogdu S, Lucassen A, Tischkowitz M, Izatt L, Aylwin S, Bano G, Hodgson S, De Menis E, Launonen V, Vahteristo P. Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. Aaltonen LA? J Clin Endocrinol Metab, 92(8):3321-5, 2007

Gilfix B. M. (and others) Patient’s and Doctor’s Guide to Medication in Acute Prophyria

Ginsburg O, Ghadirian P, Lubinski J, Cybulski C, Lynch H, Neuhausen S, Kim-Sing C, Robson M, Domchek S, Isaacs C, Klijn J, Armel S, Foulkes WD, Tung N, Moller P, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group. Smoking and the risk of breast cancer in BRCA1 and BRCA2 carriers: an update. Breast Cancer Res Treat. 2008 May 16. [Epub ahead of print]

Hamel N, Wong N, Alpert L, Galvez M, Foulkes WD. Mixed ovarian germ cell tumor in a BRCA2 mutation carrier. Int J Gybecol Pathol, 26 (2): 160-4, 2007.

Kaurah P, Macmillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, Nikkel S, Connolly-Wilson M, Weissman S, Rubinstein WS, Sebold C, Greenstein R, Stroop J, Yim D, Panzini B, McKinnon W, Greenblatt M, Wirtzfeld D, Fontaine D, Coit D, Yoon S, Chung D, Lauwers G, Pizzuti A, Vaccaro C, Redal MA, Oliveira C, Tischkowitz M, Olschwang S, Gallinger S, Lynch H, Green J, Ford J, Pharoah P, Fernandez B, Huntsman D. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA, 297:2360-72, 2007

Kotsopoulos J, Librach CL, Lubinski J, Gronwald J, Kim-Sing C, Ghadirian P, Lynch HT, Moller P, Foulkes WD, Randall S, Manoukian S, Pasini B, Tung N, Ainsworth PJ, Cummings S, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group. Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study. Cancer Causes Control. 2008 May 29. [Epub ahead of print]

Kotsopoulos J, Lubinski J, Lynch H.T, Klijn J, Ghadirian P, Neuhausen SL, Kim-Sing C, Foulkes WD, Moller P, Isaacs C, Domchek S, Randall S, Offit K, Tung N, Ainsworth P, Gershoni-Baruch R, Eisen A, Daly M, Karlan B, Saal HM, Couch F, Pasini B, Wagner T, Friedman E,Rennert G, Eng C, Weitzel J, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group. Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res., 105:221-8, 2007.

Le Page C, Ouellet V, Quinn M., Tonin PN, Provencher D, Mes-Masson A-M. 2008. BTF4/BTNA3.2 and GCS as candidate mRNA prognostic markers in epithelial ovarian cancer. Cancer Epidemiol Biomarkers Prev. 17:913-20.

Marble M, Copeland S, Khanfar H, and Rosenblatt DS. Neonatal vitamin B₁₂ deficiency secondary to maternal subclinical pernicious anemia: Identification by expanded newborn screening. J Pediatr 152:731-733, 2008.

Tischkowitz M, Brunet J.S, Bégin LR, Huntsman DG, Cheang MCU, Akslen L, Nielsen TO, Foulkes WD. The influence of additional basal markers on the prognosis of “triple negative” (ER-, PR-, HER2-) breast cancer – a two centre study. BMC Cancer 2007, 7:134

McLaughlin JR, Risch HA, Lubinski J, Moller P, Ghadirian P, Lynch H, Karlan B, Fishman D, Rosen B, Neuhausen SL, Offit K, Kauff N, Domchek S, Tung N, Friedman E, Foulkes W, Sun P, Narod SA; Hereditary Ovarian Cancer Clinical Study Group. Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet Oncol, 8: 26-34, 2007.

Mesurolle B, Kadoch L, El-Khoury M, Lisbona A, Dendukuri N, Foulkes WD. Sonographic Features of Breast Carcinoma Presenting as Masses in BRCA Gene Mutation Carriers. Ultrasound Med, 26:817-24, 2007.

Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, Gronwald J, Lynch H, Ghadirian P, Foulkes WD, Klijn J, Friedman E, Kim-Sing C, Ainsworth P, Rosen B, Domchek S, Wagner T, Tung N, Manoukian S, Couch F, Sun P, Narod SA and the Hereditary Breast Cancer Clinical Study Group Breast. International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 122:2017-22, 2008.

Metcalfe KA, Foulkes WD, Kim-Sing C, Ainsworth P, Rosen B, Armel S, Poll A, Eisen A, Gilchrist D, Chudley A, Ghadirian P, Maugard C, Lemire EG, Sun P, Narod S. A family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutation. Clin Genet, 73:474-9, 2008.

Metcalfe KA, Lubinski J, Ghadirian P, Lynch H, Kim-Sing C, Friedman E, Foulkes WD, Domchek S, Ainsworth P, Isaacs C, Tung N, Gronwald J, Cummings S, Wagner T, Manoukian S, Møller P, Weitzel J, Sun P, Narod SA. Predictors of Contralateral Prophylactic Mastectomy in Women with a BRCA1 or BRCA2 Mutation: The Hereditary Breast Cancer Clinical Study Group. J Clin Oncol. 26:1093-7, 2008.

Neylon N, Tischkowitz M, Foulkes WD. A family affair? Breast cancer genetics. Canadian Journal of Diagnosis, June 2007, 77-79.

Ouellet V, Le Page C, Madore J, Guyot MC, Barrès V, Lussier C, Tonin PN, Provencher DM, Mes-Masson AM. 2007. An apoptotic molecular network identified by microarray: On the TRAIL to new insights in epithelial ovarian cancer. Cancer. 110:297-308.

Ouellet V, Zietarska M, Portelance L, Lafontaine J, Madore J, Puiffe M-L, Arcand S, Shen Z, Hebert J, Tonin PN, Provencher DM, Mes-Masson A-M. 2008. Characterization of three new serous epithelial ovarian cancer cell lines. BMC Cancer 8:152.

PuiffeM-L, Le Page C, Filali-MouhimA, ZiertarskaM, OuelletV, Tonin PN, Chevrette M, ProvencherDM, Mes-Masson M-M. 2007. Characterization of ovarian cancer ascites on cell invasion, proliferation, spheroid formation and gene expression in an in vitro model of epithelial ovarian cancer. Neoplasia 9: 820-829.

Refae MA, Wong N, Patenaude F, Bégin LR, Foulkes WD. Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. Nature Clinical Practice Oncology, 4: 256-61, 2007.

Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish S. D, Lach F. P, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew C. G, Auerbach A. D, Rahman N. Biallelic mutations in PALB2, which encodes a BRCA2 interacting protein, cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 39: 162-4, 2007.

Tischkowitz M, Sabbaghian N, Ray AM, Lange EM, Foulkes WD, Cooney KA. Analysis of the Gene Coding for the BRCA2-Interacting Protein PALB2 in hereditary prostate cancer. The prostate, 68:675-8, 2008.

Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho J. S, Hamel N, Li G, Van Beers E. H., Li L, Khalil T, Quenneville L, Omeroglu A., Poll A., Wong N, Nederlof P. M., Ashworth A, Tonin P. N, Narod S, Livingston D. M, Foulkes W. Analysis of PALB2/FANCN–associated breast cancer families. Proc Natl Acad Sci U S A 104: 6788-6793, 2007.

Tonin PN, MaugardCM, Perret C, Mes-Masson A-M, Provencher DM. 2007. A review of histopathological subtypes of ovarian cancer in BRCA-related French Canadian cancer families. Fam Cancer 6:491-7.

Tsai AC-H, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am J Med Genet Part A 143A: 2430-2434, 2007.

Tulandi T, Al-Sunaidi M, Arseneau J, Tonin PN, Arcand SL. 2008. Calcified tissue of fetal origin in utero. Fertil Steril. 89:217-8.

Vu TT, Zeitouni AG, Tsinalis P, Foulkes WD, Hagr A. Familial clustering of parotid gland lymphoepithelioma in North America. J Otolaryngol., 37(1):23-6, 2008.

Wojnarowicz PM, Breznan A, Arcand SL, Filali-Mouhim A, Provencher DM, Mes-Masson A-M, Tonin PN. 2007. Construction of a chromosome 17 transcriptome in serous ovarian cancer identifies differentially expressed genes. Int J Gynecol Cancer 2007 Nov 19. [Epub ahead of print]

Yasmeen A, Bismar TA, Kandouz M, Foulkes WD, Desprez PY, Al Moustafa AE. E6/E7 of HPV type 16 promotes cell invasion and metastasis of human breast cancer cells. Cell Cycle. 6:2038-42, 2007.

Zietarska M, Maugard CM, Filali-Mouhim A, Alam-Fahmy M, Tonin PN, Provencher DM, Mes-Masson A-M. 2007. Molecular description of a 3D in vitro model for the study of epithelial ovarian cancer (EOC). Mol Carcinog 46(10):872-85.

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