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Albert de la Chapelle MD, PhD


Albert de la Chapelle MD, PhD
ProfessorCollege of Medicinealbert.delachapelle@osumc.edu
804 Biomedical Res. Tower 460 W 12th Avenue Columbus OH 43210
Phone:614-688-4781Fax: 614-688-4763
  • Molecular Biology and Cancer Genetics

General Research Interest

Cancer Genetics and Genomics

Research Description

Research in Dr. de la Chapelle’s laboratory focuses on the mapping, cloning, and characterization of high-penetrance genes for cancer predisposition.  Similar studies into low-penetrance genes, a relatively new concept, are also done.  When new genes are identified, studies are directed to determine the pathophysiological role of the proteins they encode, and the mechanisms by which mutations in the genes contribute to the cancer phenotype. Finally, there is an emphasis on translational aspects of the research, viz. the exploitation of laboratory discoveries towards new diagnostic and therapeutic procedures.  Diseases under study in the de la Chapelle laboratory include colorectal cancer, papillary thyroid cancer, and acute myeloid leukemia.   Colorectal cancer is highly heritable; nevertheless only a small fraction of all predisposing genes have been detected so far.  Two novel mechanisms of predisposition to colorectal cancer are presently being explored. In papillary thyroid cancer predisposing germline mutations are sought by a variety of methods, including linkage, allelic association, and the determination of allelic differences in gene expression.  The role of non-coding RNA genes is emerging as a major cause of predisposition to papillary thyroid cancer.  One microRNA, 146a, has been implicated.  Carriers of a single nucleotide polymorphism in the pre-miR146a sequence have an elevated risk of thyroid cancer. It appears that heterozygotes for the polymorphism produce two abnormal mature miRs, whose target genes suggest the involvement of numerous downstream genes contributing to cancer development. In acute myeloid leukemia the group cloned a novel gene, BAALC for Brain and Acute Leukemia, Cytoplasmic that is expressed in early hematopoietic progenitor cells, and in a subset of the acute myeloid and lymphoid leukemias. Ongoing studies, including mouse modeling, aim at understanding the precise role of BAALC in leukemogenesis.  The working hypothesis is that BAALC is a marker of, or even a contributor to, blocked differentiation of these cells. 

Transinstitutional Work

The key to success in translational research is collaboration. OSU provides ample opportunities to collaborate, and  collaborations by the de la Chapelle lab extend within and beyond the Medical Center.  Almost all research projects are trans-institutional in some respect

Current Publications

  • Liyanarachchi S, Wojcicka A, Li W, Czetwertynska M, Stachlewska E, Nagy R, Hoag K, Wen B, Ploski R, Ringel MD, Kozłowicz-Gudzinska I, Gierlikowski W, Jazdzewski K, He H, de la Chapelle ACumulative Risk Impact of Five Genetic Variants Associated With Papillary Thyroid Carcinoma.Thyroid in press 5/9/2013
  • He H, Bronisz A, Liyanarachchi S, Nagy R, Li W, Huang Y, Akagi K, Saji M, Kula D, Wojcicka A, Sebastian N, Wen B, Puch Z, Kalemba M, Stachlewska E, Czetwertynska M, Dlugosinska J, Dymecka K, Ploski R, Krawczyk M, Morrison PJ, Ringel MD, Kloos RT, Jazdzewski K, Symer DE, Vieland VJ, Ostrowski M, Jarzab B, de la Chapelle ASRGAP1 Is a Candidate Gene for Papillary Thyroid Carcinoma Susceptibility.J Clin Endocrinol Metab 98(5) E973-80 5/1/2013
  • Tomsic J, Senter L, Liyanarachchi S, Clendenning M, Vaughn CP, Jenkins MA, Hopper JL, Young J, Samowitz W, de la Chapelle ARecurrent and founder mutations in the PMS2 gene.Clin Genet 83(3) 238-43 3/1/2013
  • He H, Li W, Wu D, Nagy R, Liyanarachchi S, Akagi K, Jendrzejewski J, Jiao H, Hoag K, Wen B, Srinivas M, Waidyaratne G, Wang R, Wojcicka A, Lattimer IR, Stachlewska E, Czetwertynska M, Dlugosinska J, Gierlikowski W, Ploski R, Krawczyk M, Jazdzewski K, Kere J, Symer DE, Jin V, Wang Q, de la Chapelle AUltra-Rare Mutation in Long-Range Enhancer Predisposes to Thyroid Carcinoma with High Penetrance.PLoS One 8(5) e61920 1/1/2013
  • Wei QX, Claus R, Hielscher T, Mertens D, Raval A, Oakes CC, Tanner SM, de la Chapelle A, Byrd JC, Stilgenbauer S, Plass CGermline allele-specific expression of DAPK1 in chronic lymphocytic leukemia.PLoS One 8(1) e55261 1/1/2013
  • Moreira L, Balaguer F, Lindor N, de la Chapelle A, Hampel H, Aaltonen LA, Hopper JL, Le Marchand L, Gallinger S, Newcomb PA, Haile R, Thibodeau SN, Gunawardena S, Jenkins MA, Buchanan DD, Potter JD, Baron JA, Ahnen DJ, Moreno V, Andreu M, Ponz de Leon M, Rustgi AK, Castells AIdentification of Lynch syndrome among patients with colorectal cancer.JAMA 308(15) 1555-65 10/17/2012
  • Tanner SM, Sturm AC, Baack EC, Liyanarachchi S, de la Chapelle AInherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Orphanet J Rare Dis 7 56 8/28/2012
  • Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JAMicrocephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.Clin Genet 82(2) 140-6 8/1/2012
  • Eisfeld AK, Marcucci G, Maharry K, Schwind S, Radmacher MD, Nicolet D, Becker H, Mrózek K, Whitman SP, Metzeler KH, Mendler JH, Wu YZ, Liyanarachchi S, Patel R, Baer MR, Powell BL, Carter TH, Moore JO, Kolitz JE, Wetzler M, Caligiuri MA, Larson RA, Tanner SM, de la Chapelle A, Bloomfield CDmiR-3151 interplays with its host gene BAALC and independently affects outcome of patients with cytogenetically normal acute myeloid leukemia.Blood 120(2) 249-58 7/12/2012
  • Mercado RC, Hampel H, Kastrinos F, Steyerberg E, Balmana J, Stoffel E, Cohn DE, Backes FJ, Hopper JL, Jenkins MA, Lindor NM, Casey G, Haile R, Madhavan S, de la Chapelle A, Syngal SPerformance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases.Genet Med 14(7) 670-80 7/1/2012
  • Jendrzejewski J, He H, Radomska HS, Li W, Tomsic J, Liyanarachchi S, Davuluri RV, Nagy R, de la Chapelle AThe polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type.Proc Natl Acad Sci U S A 109(22) 8646-51 5/29/2012
  • Tomsic J, Liyanarachchi S, Hampel H, Morak M, Thomas BC, Raymond VM, Chittenden A, Schackert HK, Gruber SB, Syngal S, Viel A, Holinski-Feder E, Thibodeau SN, de la Chapelle AAn American founder mutation in MLH1.Int J Cancer 130(9) 2088-95 5/1/2012
  • Win AK, Walters RJ, Buchanan DD, Jenkins MA, Sweet K, Frankel WL, de la Chapelle A, McKeone DM, Walsh MD, Clendenning M, Pearson SA, Pavluk E, Nagler B, Hopper JL, Gattas MR, Goldblatt J, George J, Suthers GK, Phillips KD, Woodall S, Arnold J, Tucker K, Field M, Greening S, Gallinger S, Aronson M, Perrier R, Woods MO, Green JS, Walker N, Rosty C, Parry S, Young JPCancer risks for relatives of patients with serrated polyposis.Am J Gastroenterol 107(5) 770-8 5/1/2012
  • Eisfeld AK, Marcucci G, Liyanarachchi S, Döhner K, Schwind S, Maharry K, Leffel B, Döhner H, Radmacher MD, Bloomfield CD, Tanner SM, de la Chapelle AHeritable polymorphism predisposes to high BAALC expression in acute myeloid leukemia.Proc Natl Acad Sci U S A 109(17) 6668-73 4/24/2012
  • Gudmundsson J, Sulem P, Gudbjartsson DF, Jonasson JG, Masson G, He H, Jonasdottir A, Sigurdsson A, Stacey SN, Johannsdottir H, Th Helgadottir H, Li W, Nagy R, Ringel MD, Kloos RT, de Visser MC, Plantinga TS, den Heijer M, Aguillo E, Panadero A, Prats E, Garcia-Castaño A, De Juan A, Rivera F, Walters GB, Bjarnason H, Tryggvadottir L, Eyjolfsson GI, Bjornsdottir US, Holm H, Olafsson I, Kristjansson K, Kristvinsson H, T Magnusson O, Thorleifsson G, Gulcher JR, Kong A, Kiemeney LA, Jonsson T, Hjartarson H, Mayordomo JI, Netea-Maier RT, de la Chapelle A, Hrafnkelsson J, Thorsteinsdottir U, Rafnar T, Stefansson KDiscovery of common variants associated with low TSH levels and thyroid cancer risk.Nat Genet 44(3) 319-22 1/22/2012
  • Tuupanen S, Yan J, Turunen M, Gylfe AE, Kaasinen E, Li L, Eng C, Culver DA, Kalady MF, Pennison MJ, Pasche B, Manne U, de la Chapelle A, Hampel H, Henderson BE, Le Marchand L, Hautaniemi S, Askhtorab H, Smoot D, Sandler RS, Keku T, Kupfer SS, Ellis NA, Haiman CA, Taipale J, Aaltonen LACharacterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583.Cancer Genet 205(1-2) 25-33 1/1/2012
  • Gerber MM, Hampel H, Schulz NP, Fernandez S, Wei L, Zhou XP, de la Chapelle A, Toland AEEvaluation of allele-specific somatic changes of genome-wide association study susceptibility alleles in human colorectal cancers.PLoS One 7(5) e37672 1/1/2012
  • Shen R, Liyanarachchi S, Li W, Wakely PE, Saji M, Huang J, Nagy R, Farrell T, Ringel MD, de la Chapelle A, Kloos RT, He HMicroRNA signature in thyroid fine needle aspiration cytology applied to "atypia of undetermined significance" cases.Thyroid 22(1) 9-16 1/1/2012
  • Coissieux MM, Tomsic J, Castets M, Hampel H, Tuupanen S, Andrieu N, Comeras I, Drouet Y, Lasset C, Liyanarachchi S, Mazelin L, Puisieux A, Saurin JC, Scoazec JY, Wang Q, Aaltonen L, Tanner SM, de la Chapelle A, Bernet A, Mehlen PVariants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer.Gastroenterology 141(6) 2039-46 12/1/2011
  • Beech CM, Liyanarachchi S, Shah NP, Sturm AC, Sadiq MF, de la Chapelle A, Tanner SMAncient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.Orphanet J Rare Dis 6 74 11/13/2011
  • de la Chapelle A, Jazdzewski KMicroRNAs in thyroid cancer.J Clin Endocrinol Metab 96(11) 3326-36 11/1/2011
  • Jendrzejewski J, Tomsic J, Lozanski G, Labanowska J, He H, Liyanarachchi S, Nagy R, Ringel MD, Kloos RT, Heerema NA, de la Chapelle ATelomere length and telomerase reverse transcriptase gene copy number in patients with papillary thyroid carcinoma.J Clin Endocrinol Metab 96(11) E1876-80 11/1/2011