2006/2007 Publications Page


Baker K, Chong G, Foulkes WD, Jass JR. Transforming growth factor-pathway disruption and infiltration of colorectal cancers by intraepithelial lymphocytes. Histopathol 49(4): 371-380, 2006.

Barker KT, Foulkes WD, Schwartz CE, Labadie C, Monsell F, Houlston RS, Harper J. Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? J Med Genet 43(7): 613-614, 2006.

Bergwitz, C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabédian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, and Jüppner H. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet 78:179-192, 2006.

Bikker H, Bakker HD, Abeling NGGM, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJA, Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene results in mild methylmalonic aciduria. Hum Mutat 27(7): 640-643, 2006.

Cody, N, Ouellet V, Manderson EN, Quinn M, Filali-Mouhim A, Tellis, P, Provencher D, Mes-Masson A-M, Chevrette M, Tonin PN. Transfer of chromosome 3 fragments identified candidate regions involved in growth suppression of a human ovarian cancer cell line monoallelic for chromosome 3p. Oncogene 26(4): 618-32, 2007.

Dean NL, Loredo-Osti JC, Fujiwara TM, Morgan K, Tan SL, Naumova AK, and Ao A. Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos. Eur J Hum Genet 14:299-306, 2006.

Dobson CM, Gradinger AB, Longo N, Wu X, Leclerc D, Lerner-Ellis JP, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: A novel cause of mild methylmalonic aciduria. Mol Genet Metab 88: 327-333, 2006.

Ernest S, Carter M, Shao H, Hosack A, Lerner N, Colmenares C, Rosenblatt DS, Yoh-Han Pao, Ross ME, Nadeau J. Parallel changes in metabolite and expression profiles in Crooked-tail mutant and folate-reduced wild-type mice. Hum Mol Genet 15(23): 3387- 93, 2006.

Finch A, Beiner M, Lubinski J, Lynch HT, Moller P, Rosen B, Murphy J, Ghadirian P, Friedman E, Foulkes WD, Kim-Sing C, Wagner T, Tung N, Couch F, Stoppa-Lyonnet D, Ainsworth P, Daly M, Pasini B, Gershoni-Baruch R, Eng C, Olopade OI, McLennan J, Karlan B, Weitzel J, Sun P, Narod SA. Hereditary Ovarian Cancer Clinical Study Group. Salpingo-oophorectomy and the risk of ovarian, fallopian tube and peritoneal cancers in women with BRCA1 or BRCA2 mutation. JAMA 296 (2): 185-192, 2006.

Foulkes WD. BRCA1 and BRCA2: Chemosensitivity, treatment outcomes and prognosis. Fam Cancer 5 (2): 135-142, 2006.

Friedman E, Kotsopoulos J, Lubinski J, Lynch HT, Ghadirian P, Neuhausen SL, Isaacs C, Weber B, Foulkes WD, Moller P, Rosen B, Kim-Sing C, Gershoni-Baruch R, Ainsworth P, Daly M, Tung N, Eisen A, Olopade OI, Karlan B, Saal HM, Garber JE, Rennert G, Gilchrist D, Eng C, Offit K, Osborne M, Sun P, Narod SA, the Hereditary Breast Cancer Clinical Study Group. Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers. Breast Cancer Res 8(2):R15, 2006.

Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol 101 (2): 385-98, 2006.

Galiatsatos P, Kasprzak L, Chong G, Jass JR, Foulkes WD. Multiple primary malignancies in a patient with situs ambiguous. Clin Genet 69 (6): 528-531, 2006.

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, Aaltonen LA  Germline. CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab 2007 May 22; [Epub ahead of print].

Gherasim C, Rosenblatt DS, Banerjee R. The polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation. Human Mutation DOI 10.1002/humu.20563, 2007

Goswami RS, Minoo P, Baker K, Chong G, Foulkes WD, Jass JR. Hyperplastic polyposis and cancer of the colon with gastrinoma of the duodenum. Nat Clin Pract Oncol 3 (5): 281-4, 2006.

Gronwald J, Tung N, Foulkes WD, Offit K, Gershoni R, Daly M, Kim-Sing C, Olsson H, Ainsworth P, Eisen A, Saal H, Friedman E, Olopade O, Osborne M, Weitzel J, Lynch H, Ghadirian P, Lubinski J, Sun P, Narod SA. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update. Int J Cancer 118 (9); 2281-4, 2006.

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

Hřebíček M, Mrázová L, Seyrantepe V, Duran S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Čížková A, Poupětová H, Sikora J, Uřinovská J, Stránecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJHM, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TH, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Mutations in TMEM76 cause mucopolysaccharidosis type IIIC (Sanfilippo C syndrome). Am J Hum Genet 79:807-819, 2006.

Le Page C, Ouellet V, Madore J, Hudson TJ, Tonin PN, Provencher DM, Mes-Masson A-M. From gene profiling to diagnostic markers: IL-18 and FGF-2 complement CA125 as serum-based markers in epithelial ovarian cancer. Int J Cancer 118:1750-8, 2006.

Le Page C, Ouellet V, Madore J, Ren F, Hudson TJ, Tonin PN, Provencher D, Mes-Masson A-M. Gene profiling in primary cultures of ovarian epithelial cells identifies novel molecular classifiers of ovarian cancer.  Br J Cancer 94:436-445, 2006.

Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Fobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet 38(1): 93-100, 2006. Erratum. Nat Genet 38(8): 957, 2006.

Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Lepage P, Dobson CM, Gravel RA, Rosenblatt DS. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12 -dependent methylmalonic aciduria. Mol Genet Metab (87): 219-225, 2006.

Li L, McVety S, Younan R, Du Sart D, Gordon PH, Hutter P, Hogervost FBL, Liang P, Chong G, Foulkes WD. Distinct patterns of germ-line deletions in MLH1 and MLH2: The implication of Alu repetitive element in the genetic etiology of Lynch Syndrome (HNPCC). Hum Mutat 27 (4): 388, 2006.

McVety S, Li L, Gordon PH, Chong G, Foulkes WD. Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family. J Med Genet 43 (2): 153-6, 2006.

McVety S, Li L, Thiffault I, Gordon P.H, MacNamara E, Wong N, Australie K, Kasprzak L, Chong G, Foulkes WD. 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. Fam Cancer 5: 21-8, 2006.

Minoo P, Baker K, Goswami R, Chong G, Foulkes WD, Ruszkiewicz A, Barker M, Buchanan D, Young J, Jass JR. Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis. Gut 55(10): 1467-1474, 2006.

Moras E, Hosack A, Watkins D, Rosenblatt DS. Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism. Mol Gen Metab 90: 140-147, 2007.

Morel CF, Thomas MA, Cao H, O’Neil CH, Pickering JG, Foulkes WD, Hegele RA. A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy (FPLD2). J Clin Endocrinol Metab 91(7): 2689-2695, 2006.

Morel CF, Lerner-Ellis JP, Rosenblatt DS. Combined methylmalonic aciduria and homocystinuria (cblC):  Phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab (88): 315-321, 2006.

Narod SA, Lubinski J, Ghadirian P, Lynch HT, Moller P, Foulkes WD, Rosen B, Kim-Sing C, Isaacs C, Domcheck S, Sun P for the Hereditary Breast Cancer Clinical Study Group. Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case control study. Lancet Oncol 7(5): 402-406, 2006.

Nkondjock A, Ghadirian P, Kotsopoulos J, Lubinski J, Lynch H, Kim-Sing C, Horsman D, Rosen B, Isaacs C, Weber B, Foulkes WD, Ainsworth P, Tung N, Eisen A, Friedman E, Eng C, Sun P, Narod SA. Coffee consumption and breast cancer risk among BRCA1 and BRCA2 mutation carriers. Int J Cancer 118 (1): 103-7, 2006.

Oros KK, Leblanc G, Arcand SL, Shen Z, Perret C, Mes-Masson A-M, Foulkes WD, Ghadirian P, Provencher D, Tonin PN. Haplotype analysis suggests common founders of a recurrent BRCA2 mutation in French Canadian breast and/or ovarian cancer families. BMC Med Genet 7:23, 2006.

Oros KK, Ghadirian P, Mes-Masson A-M, Foulkes WD, Provencher D, Tonin PN. Application of BRCA1/2 carrier prediction models to French Canadian breast and breast-ovarian cancer families. Clin Genet 70:320-9, 2006.

Ouellet V, Guyot, M-C, Le Page,C, Filali-Mouhim A, Lussier C, Tonin PN, Provencher D, Mes-Masson A-M.. Tissue array analysis of microarray candidates identifies markers associated with tumor grade and outcome in serous epithelial ovarian cancer. Int J Cancer 119:599-607, 2006.

Ouellet V, Le Page C, Guyot M-C, Lussier C, Provencher DM, Tonin PN, Mes-Masson A-M. The SET complex in serous epithelial ovarian cancer. Int J Cancer 119:2119-26, 2006.

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.  Nat Clin Pract Oncol 4(4):256-61, 2007.

Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb B, Neveling K, Kelly, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, 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.

Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation. Am J Med Genet A. 140(22): 2416-25, 2006.

Rudkin TM, Hamel N, Galvez M, Hogervorst F, Gille JJ, Moller P, Apold J, Foulkes WD. The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations. BMC Med Genet. 7 (1): 15, 2006.

Shinto E, Baker K, Tsuda H, Mochizuki H, Ueno H, Matsubara O, Foulkes WD, Jass JR. Tumor buds show reduced expression of laminin-5 gamma 2 chain in DNA mismatch repair deficient colorectal cancer. Dis Colon Rectum 49(8): 1193-1202, 2006.

Soravia C, Delozier CD, Dobbie Z, Berthod CR, Arrigoni E, Brundler MA, Blouin JL, Foulkes WD, Hutter P. Double frameshift mutations in APC and MSH2 in the same individual. Int J Colorectal Dis  21 (1): 79-83, 2006.

Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y. Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature 23; 440(7083): 497-500, 2006.

Tischkowitz MD, Foulkes WD. The basal phenotype of BRCA1-Related Breast Cancer: Past, Present and Future. Cell Cycle, 5 (9): 963-7, 2006.

Tischkowitz M, Gologan A, Srolovitz H, Khanna M, Foulkes WD. Muir Torre syndrome and MSH2 mutations: the importance of dermatological awareness. Br J Cancer, 95 (2): 243-244, 2006.

Tischkowitz  M, Xia B., Sabbaghian N., Reis-Filho JS, Hamel N, Li G, Van Beers E.H, Li, L, Khalil T, Quenneville, L., Omeroglu A, Poll A, Wong N, Nederlof PM, Ashworth, A, Tonin PN, Narod S, Livingston DM, Foulkes WD. Analysis of PALB2/FANCN–associated breast cancer families. Proc Natl Acad Sci U S A 104 (16): 6788-6793, 2007.

Tonin PN. Le spectre limité des mutations pathogéniques BRCA1 et BRCA2 dans le cancer du sein et le cancer du sein-ovaire dans les familles canadiennes-françaises, une population fondatrice du Québec, Canada [The limited spectrum of pathogenic BRCA1 and BRCA2 mutations in the French Canadian breast and breast-ovarian cancer families, a founder population of Quebec, Canada]. Bulletin du Cancer 93:841-6, 2006 [Invited review, for special issue to commemorate 100th anniversary of Société Française du Cancer en 2006]

Turcotte K, Loredo­-Osti JC, Fortin P, Schurr E, K. Morgan K, and Gros P. Complex genetic control of susceptibility to Mycobacterium bovis (Bacille Calmette-Guérin) infection in wild­-derived Mus spretus mice. Genes and Immunity 7:684-687, 2006.

Vogt J, Ryan E, Tischkowitz MD, Reardon W, Brueton LA. The tale of a nail sign in chromosome 4q34 deletion syndrome. Clin Dysmorphol 15(3):127-132 2006.

Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS. The spectrum of mutations in mut methylmalonic academia and identification of a common Hispanic mutation and haplotype. Hum Mutat 27(1): 31-43, 2006.

Zhang J, Dobson CM, Wu X, Lerner-Ellis JP, Rosenblatt DS, Gravel RA. Impact of cblB mutations on the function of ATP: Cob(I)alamin adenosyltransfrerase in disorders of vitamin B12 metabolism. Mol Genet Metab (87): 315-322, 2006.

Zhao R, Min SH, Qiu A, Sakaris A, Goldberg GL, Sandoval C, Malatack JJ, Rosenblatt DS, Goldman ID. The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for Hereditary Folate Malabsorption. Blood DOI 10.1182/blood-2007-02-077099, 2007.

Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature 20; 440(7087):1045-9, 2006.

Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C. Analysis of the DNA sequence and duplication history of human chromosome 15. Nature 30; 440(7084):671-5, 2006.

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