Publications

Ozcelik H, Pinnaduwage D, Bull SB, Andrulis IL. "Type of TP53 mutation and ERBB2 amplification affects survival in node-negative breast cancer." Breast Cancer Res Treat(2007)
[PubMed] [Full Text]

Savas S, Taylor IW, Wrana JL, Ozcelik H. "Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network." Physiol Genomics 29:109-117, (2007)
[PubMed] [Full Text]

Terry MB, Knight JA, Zablotska L, Wang Q, John EM, Andrulis IL, Senie RT, Daly M, Ozcelik H, Briollais L, Santella RM. "Alcohol metabolism, alcohol intake, and breast cancer risk: a sister-set analysis using the Breast Cancer Family Registry." Breast Cancer Res Treat(2007)
[PubMed] [Full Text]

Jarjanazi H, Li H, Andrulis IL, Ozcelik H. "Genome wide screening of CAG trinucleotide repeat lengths in breast cancer." Dis Markers 22:343-349, (2006)
[PubMed] [Full Text]

Cho S, Savas S, Ozcelik H. "Genetic variation and the mitogen-activated protein kinase (MAPK) signaling pathway." Omics, 10:66-81, (2006)
[PubMed]

Onay VU, Briollais L, Knight JA, Shi E, Wang Y, Wells S, Li H, Rajendram I, Andrulis IL, Ozcelik H. "SNP-SNP interactions in breast cancer susceptibility." BMC Cancer, 6:114, (2006)
[PubMed] [Full Text]

Pennell CE, Jacobsson B, Williams SM, Buus RM, Muglia LJ, Dolan SM, Morken NH, Ozcelik H, Lye SJ, Prebic Genetics Working G, Relton C. "Genetic epidemiological studies of preterm birth: Guidelines for research." Am J Obstet Gynecol, (2006)
[PubMed] [Full Text]

Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande KE, Zhang EK, Ozcelik H, Gallie BL, Letarte M. "Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations." J Med Genet, (2006)
[PubMed] [Full Text]

Savas S, Schmidt S, Jarjanazi H, Ozcelik H. "Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations." Hum Genomics, 2:287-296, (2006)
[PubMed] [Full Text]

Savas S, Tuzmen S, Ozcelik H. "Human SNPs resulting in premature stop codons and protein truncation." Hum Genomics, 2:274-286, (2006)
[PubMed] [Full Text]

Yazici H, Tigli H, Kadehci Z, Kucucuk S, Saip P, Issever H, Ozcelik H, Dalay N. "Are CYP17 genotypes a biomarker for ovarian cancer in patients with cancer history in their family?" Oncol Res, 16:43-47, (2006)
[PubMed]

Savas S, Ahmad MF, Shariff M, Kim DY, Ozcelik H. "Candidate nsSNPs that can affect the functions and interactions of cell cycle proteins." Proteins, 58:697-705, (2005)
[PubMed] [Full Text]

Savas S, Ozcelik H. "Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs." BMC Cancer, 5:107, (2005)
[PubMed] [Full Text]

Huusko P, Ponciano-Jackson D, Wolf M, Kiefer JA, Azorsa DO, Tuzmen S, Weaver D, Robbins C, Moses T, Allinen M, Hautaniemi S, Chen Y, Elkahloun A, Basik M, Bova GS, Bubendorf L, Lugli A, Sauter G, Schleutker J, Ozcelik H, Elowe S, Pawson T, Trent JM, Carpten JD, Kallioniemi OP, Mousses S. "Nonsense-mediated decay microarray analysis identifies mutations of EPHB2 in human prostate cancer." Nature Genetics,[Epub ahead of print], (2004)
[PubMed] [Full Text]

Savas S, Kim DY, Ahmad MF, Shariff M, Ozcelik H. "Identifying functional genetic variants in DNA repair pathway using protein conservation analysis." Cancer Epidemiology Biomarkers and Prevention, 13:801-7,(2004)
[PubMed] [Full Text]

Bull SB, Ozcelik H, Pinnaduwage D, Blackstein ME, Sutherland DA, Pritchard KI, Tzontcheva AT, Sidlofsky S, Hanna WM, Qizilbash AH, Tweeddale ME, Fine S, McCready DR, Andrulis IL. "The Combination of p53 Mutation and neu/erbB-2 Amplification Is Associated With Poor Survival in Node-Negative Breast Cancer." Journal of Clinical Oncology, 22:86-96, (2004)
[PubMed] [Full Text]

Knight JA, Onay UV, Wells S, Li H, Shi EJQ, Andrulis IL, Ozcelik H, "Genetic Variants of GPX1 and SOD2 and Breast Cancer Risk at the Ontario site of the Breast Cancer Registry", Cancer Epidemiology Biomarkers and Prevention, 13:146-149, (2004)
[PubMed] [Full Text]

Figueiredo JC, Knight JA, Briollais L, Andrulis IL, Ozcelik H, "Polymorphisms XRCC1-R399Q and XRCC3-T241M and the Risk of Breast Cancer at the Ontario Site of the Breast Cancer Family Registry", Cancer Epidemiology Biomarkers and Prevention, in press

Ozcelik H, Knight JA, Glendon G, Yazici H, Carson N, Ainsworth PJ, Taylor SA, Feilotter H, Carter RF, Boyd NF and Andrulis IL, "Individual and Family Characteristics Associated with Protein Truncating Brca1 and Brca2 Mutations in an Ontario Population Based Series from the Cooperative Family Registry for Breast Cancer Studies", Journal of Medical Genetics, 40:(8) e91, (2003)
[PubMed][Full Text]

Yazici H, Glendon G, Burnie SJ, Saip P, Buyru F, Bengisu E, Andrulis IL, Dalay N and Ozcelik H, "Brca1 and Brca2 Mutations in Turkish Familial and Non-Familial Ovarian Cancer Patients: A High Incidence of Mutations in Non-Familial Cases", Human Mutation, 20:(1) 28-34, (2002)
[PubMed] [Full Text]

Quenneville LA, Phillips KA, Ozcelik H, Parkes RK, Knight JA, Goodwin PJ, Andrulis IL and O'Malley FP, "Her-2/Neu Status and Tumor Morphology of Invasive Breast Carcinomas in Ashkenazi Women with Known Brca1 Mutation Status in the Ontario Familial Breast Cancer Registry", Cancer, 95:(10) 2068-75, (2002)
[PubMed] [Full Text]

Khoo US, Chan KY, Cheung AN, Xue WC, Shen DH, Fung KY, Ngan HY, Choy KW, Pang CP, Poon CS, Poon AY and Ozcelik H, "Recurrent Brca1 and Brca2 Germline Mutations in Ovarian Cancer: A Founder Mutation of Brca1 Identified in the Chinese Population", Human Mutation, 19:(3) 307-8, (2002)
[PubMed] [Full Text]

Jarjanazi H and Ozcelik H, "Modified Rapid Expansion Detection Method to Analyze Cag/Ctg Repeat Expansions", Biotechniques, 32:(5) 1006, 1008, 1010, (2002)
[PubMed] [Full Text]

Chan KY, Ozcelik H, Cheung AN, Ngan HY and Khoo US, "Epigenetic Factors Controlling the Brca1 and Brca2 Genes in Sporadic Ovarian Cancer", Cancer Research, 62:(14) 4151-6, (2002)
[PubMed] [Full Text]

	Ozcelik H and Glendon G. BRCA1 and BRCA2, Breast Cancer Predisposition Genes. A chapter in “Tumor Markers: Physiology, Pathobiology, Technology and Clinical Applications”, Eleftherios P. Diamandis, Herbert A. Fritsche, Hans Lilja , Daniel W. Chan, Morton K. Schwartz (Editors), AACC press, Washinghton DC (2002)
	Squire J, Ozcelik H and Andrulis IL. Investigating the Genetics of Cancer. A chapter in “Oxford Textbook of Oncology”, Robert L. Souhami, Ian Tannock, Peter Hohenberger , Jean-Claude Horiot (Editors), 2nd edition, Oxford University Press, London, (2002).

Andrulis IL, Anton-Culver H, Beck J, Bove B, Boyd J, Buys S, Godwin AK, Hopper JL, Li F, Neuhausen SL, Ozcelik H, Peel D, Santella RM, Southey MC, van Orsouw NJ, Venter DJ, Vijg J and Whittemore AS, "Comparison of DNA- and Rna-Based Methods for Detection of Truncating Brca1 Mutations", Human Mutation, 20:(1) 65-73, (2002)
[PubMed] [Full Text]

Mousses S, Gokgoz N, Wunder JS, Ozcelik H, Bull S, Bell RS and Andrulis IL, "P53 Missense but Not Truncation Mutations Are Associated with Low Levels of P21(Cip1/Waf1) Mrna Expression in Primary Human Sarcomas", British Journal of Cancer, 84:(12) 1635-9, (2001)
[PubMed] [Full Text]

Done SJ, Arneson CR, Ozcelik H, Redston M and Andrulis IL, "P53 Protein Accumulation in Non-Invasive Lesions Surrounding P53 Mutation Positive Invasive Breast Cancers", Breast Cancer Research and Treatment, 65:(2) 111-8, (2001)
[PubMed] [Full Text]

Yazici H, Bitisik O, Akisik E, Cabioglu N, Saip P, Muslumanoglu M, Glendon G, Bengisu E, Ozbilen S, Dincer M, Turkmen S, Andrulis IL, Dalay N and Ozcelik H, "Brca1 and Brca2 Mutations in Turkish Breast/Ovarian Families and Young Breast Cancer Patients", British Journal of Cancer, 83:(6) 737-42, (2000)
[PubMed] [Full Text]

Rice JC, Ozcelik H, Maxeiner P, Andrulis I and Futscher BW, "Methylation of the Brca1 Promoter Is Associated with Decreased Brca1 Mrna Levels in Clinical Breast Cancer Specimens", Carcinogenesis, 21:(9) 1761-5, (2000)
[PubMed] [Full Text]

Lal G, Liu G, Schmocker B, Kaurah P, Ozcelik H, Narod SA, Redston M and Gallinger S, "Inherited Predisposition to Pancreatic Adenocarcinoma: Role of Family History and Germ-Line P16, Brca1, and Brca2 Mutations", Cancer Research, 60:(2) 409-16, (2000)
[PubMed] [Full Text]

Khoo US, Ngan HY, Cheung AN, Chan KY, Lu J, Chan VW, Lau S, Andrulis IL and Ozcelik H, "Mutational Analysis of Brca1 and Brca2 Genes in Chinese Ovarian Cancer Identifies 6 Novel Germline Mutations", Human Mutation, 16:(1) 88-9, (2000)
[PubMed] [Full Text]

Kandel R, Li SQ, Ozcelik H and Rohan T, "P53 Protein Accumulation and Mutations in Normal and Benign Breast Tissue", Interantional Journal of Cancer, 87:(1) 73-8, (2000)
[PubMed] [Full Text]

Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, Ozcelik H, Goss P, Allingham-Hawkins D, Hamel N, Di Prospero L, Contiga V, Serruya C, Klein M, Moslehi R, Honeyford J, Liede A, Glendon G, Brunet JS and Narod S, "Prevalence and Penetrance of Brca1 and Brca2 Gene Mutations in Unselected Ashkenazi Jewish Women with Breast Cancer", Journal of National Cancer Institute, 91:(14) 1241-7, (1999)
[PubMed] [Full Text]

Phillips KA, Nichol K, Ozcelik H, Knight J, Done SJ, Goodwin PJ and Andrulis IL, "Frequency of P53 Mutations in Breast Carcinomas from Ashkenazi Jewish Carriers of Brca1 Mutations", Journal of National Cancer Institute, 91:(5) 469-73, (1999)
[PubMed] [Full Text]

Ozcelik H, Nedelcu R, Chan VW, Shi XH, Murphy J, Rosen B and Andrulis IL, "Mutation in the Coding Region of the Brca1 Gene Leads to Aberrant Splicing of the Transcript", Human Mutation, 14:(6) 540-1, (1999)
[PubMed] [Full Text]

Khoo US, Ozcelik H, Cheung AN, Chow LW, Ngan HY, Done SJ, Liang AC, Chan VW, Au GK, Ng WF, Poon CS, Leung YF, Loong F, Ip P, Chan GS, Andrulis IL, Lu J and Ho FC, "Somatic Mutations in the Brca1 Gene in Chinese Sporadic Breast and Ovarian Cancer", Oncogene, 18:(32) 4643-6, (1999)
[PubMed] [Full Text]

Chan PC, Wong BY, Ozcelik H and Cole DE, "Simple and Rapid Detection of Brca1 and Brca2 Mutations by Multiplex Mutagenically Separated Pcr", Clinical Chemistry, 45:(8 Pt 1) 1285-7, (1999)
[PubMed] [Full Text]

Tadmouri GO, Tuzmen S, Ozcelik H, Ozer A, Baig SM, Senga EB and Basak AN, "Molecular and Population Genetic Analyses of Beta-Thalassemia in Turkey", American Jornal of Hematology, 57:(3) 215-20, (1998)
[PubMed] [Full Text]

Malkin D and Ozcelik H. Basic Tools for Advancing Knowledge in Breast Cancer. A chapter in “Diseases of the Breast”, Jay R. Harris et al., (Editors), 2nd edition, Lippincott-Williams & Wilkins Publishers, Philadelphia (1999)

Redston M, Nathanson KL, Yuan ZQ, Neuhausen SL, Satagopan J, Wong N, Yang D, Nafa D, Abrahamson J, Ozcelik H, Antin-Ozerkis D, Andrulis I, Daly M, Pinsky L, Schrag D, Gallinger S, Kaback M, King MC, Woodage T, Brody LC, Godwin A, Warner E, Weber B, Foulkes W and Offit K, "The Apci1307k Allele and Breast Cancer Risk", Nature Genetics, 20:(1) 13-4, (1998)
[PubMed] [Full Text]

Ozcelik H, To MD, Couture J, Bull SB and Andrulis IL, "Preferential Allelic Expression Can Lead to Reduced Expression of Brca1 in Sporadic Breast Cancers", Interantional Journal of Cancer, 77:(1) 1-6, (1998)
[PubMed] [Full Text]

Done SJ, Arneson NC, Ozcelik H, Redston M and Andrulis IL, "P53 Mutations in Mammary Ductal Carcinoma in Situ but Not in Epithelial Hyperplasias", Cancer Research, 58:(4) 785-9, (1998)
[PubMed]

Casson AG, Tammemagi M, Eskandarian S, Redston M, McLaughlin J and Ozcelik H, "P53 Alterations in Oesophageal Cancer: Association with Clinicopathological Features, Risk Factors, and Survival", Molecular Pathology, 51:(2) 71-9, (1998)
[PubMed] [Full Text]

Ozcelik H, Schmocker B, Di Nicola N, Shi XH, Langer B, Moore M, Taylor BR, Narod SA, Darlington G, Andrulis IL, Gallinger S and Redston M, "Germline Brca2 6174delt Mutations in Ashkenazi Jewish Pancreatic Cancer Patients", Nature Genetics, 16:(1) 17-8, (1997)
[PubMed]

Casson AG, Wilson SM, McCart JA, O'Malley FP, Ozcelik H, Tsao MS and Chambers AF, "Ras Mutation and Expression of the Ras-Regulated Genes Osteopontin and Cathepsin L in Human Esophageal Cancer", Interantional Journal of Cancer, 72:(5) 739-45, (1997)
[PubMed] [Full Text]

Tuzmen S, Tadmouri GO, Ozer A, Baig SM, Ozcelik H, Basaran S and Basak AN, "Prenatal Diagnosis of Beta-Thalassaemia and Sickle Cell Anaemia in Turkey", Prenatal Diagnosis, 16:(3) 252-8, (1996)
[PubMed]

Ozcelik H, Antebi YJ, Cole DE and Andrulis IL, "Heteroduplex and Protein Truncation Analysis of the Brca1 185delag Mutation", Human Genetics, 98:(3) 310-2, (1996)
[PubMed] [Full Text]

Eppert K, Scherer SW, Ozcelik H, Pirone R, Hoodless P, Kim H, Tsui LC, Bapat B, Gallinger S, Andrulis IL, Thomsen GH, Wrana JL and Attisano L, "Madr2 Maps to 18q21 and Encodes a Tgfbeta-Regulated Mad-Related Protein That Is Functionally Mutated in Colorectal Carcinoma", Cell, 86:(4) 543-52, (1996)
[PubMed] [Full Text]

Ozcelik H, Mousses S and Andrulis IL, "Low Levels of Expression of an Inhibitor of Cyclin-Dependent Kinases (Cip1/Waf1) in Primary Breast Carcinomas with P53 Mutations", Clinical Cancer Researchearch, 1:(8) 907-12, (1995)
[PubMed]

Ozcelik H and Andrulis IL, "Multiplex Pcr-Sscp for Simultaneous Screening for Mutations in Several Exons of P53", Biotechniques, 18:(5) 742-4, (1995)
[PubMed]

Mousses S, Ozcelik H, Lee PD, Malkin D, Bull SB and Andrulis IL, "Two Variants of the Cip1/Waf1 Gene Occur Together and Are Associated with Human Cancer", Human Molecualr Genetics, 4:(6) 1089-92, (1995)
[PubMed]

Ozcelik H, Basak AN, Tuzmen S, Kirdar B and Akar N, "A Novel Deletion in a Turkish Beta-Thalassemia Patient Detected by Dgge and Direct Sequencing: Fsc 22-24 (-7 Bp)", Hemoglobin, 17:(4) 387-91, (1993)
[PubMed]

Basak AN, Ozer A, Ozcelik H, Kirdar B and Gurgey A, "A Novel Frameshift Mutation: Deletion of C in Codons 74/75 of the Beta-Globin Gene Causes Beta Zero-Thalassemia in a Turkish Patient", Hemoglobin, 16:(4) 309-12, (1992)
[PubMed]

Basak AN, Ozcelik H, Ozer A, Tolun A, Aksoy M, Agaoglu L, Ridolfi F, Ulukutlu L, Akar N, Gurgey A and et al., "The Molecular Basis of Beta-Thalassemia in Turkey", Human Genetics, 89:(3) 315-8, (1992)
[PubMed]

Basak, A.N., Özçelik, H., Özer, A., Tolun, A. & Kìrdar, B. "Molecular characteristic of Turkish patients with B-Thalassemia", DOGA-Turkish J of Medical Sciences 15:426-434 (1991)