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Staff photo

460 W 12th Ave
Columbus, OH 43210

Phone: (614) 688-4781

Email: de-la-chapelle.1@osu.edu

 

Current OSU Appointments

Professor, SBS-Cancer Biology & Genetics

Professor, Molecular Genetics Admin

 

Advising Narrative

Biological Sciences
Biological Sciences

Academic Advising

1998 - present Heejei Yoon, The Ohio State University. Graduated 2006. Molecular Genetics of Thyroid Cancer
2009 - present Amy Dworkin, The Ohio State University. Genetic Susceptibility of Squamous Cell Carcinoma in Organ Transplant Recipients
2009 - present Kemal Cubukcu, The Ohio State University.
 

Chapters in Books

En poliklinik for tonaringar (Clinic for teenagers)

Workshop on cancer cytogenetics.

The map of the human X chromosome

Sex chromosome abnormalities

Chromosomal mechanisms in neoplasia.

Chromosome abnormalities in burkitt lymphoma nad Burkitt-type acute lymphoblastic leukemia

Kromosomit syovan synnyssa; syovan periytyminen (Chromosomes in the etiology of cancer; the inheritance of cancer)

The origin of 45,X males.

Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males.

Sex chromosome abnormalities

Familial gelsolin amyloidosis, Danish subtype (tyr-187): immunohistochemical localization of amyloid with antigelsolin antibodies

X-linked juvenile retinoschisis

Sex chromosome abnormalities

Mutations predisposing to hereditary nonpolyposis colorectal cancer.

Humangenetisk forskning sedan 1961

Geenimutaatiot Suomen vaeston juurten tutkimuksissa.

 

Degrees

1957 M.D., University of Helsinki

1962 Ph.D., University of Helsinki

 

Editorial Activities

1975 - 2007 Excerpta Medica, Human Genetics
1975 - 2007 Annales de Genetique
1987 - 2007 Genomics
1989 - 2007 Genes, Chromosomes Cancer
1991 - 2007 Human Mutation
1991 - 2007 European Journal of Human Genetics
1997 - 2007 Community Genetics
1997 - 2007 Blood Cells, Molecules & Diseases
1999 - 2007 International Journal of Cancer
1999 - 2007 Familial Cancer
1999 - 2007 Haematologica
2000 - 2007 Clinical Genetics
2004 - 2007 Current Cancer Therapy Reviews
2006 - 2007 Journal of Clinical Oncology
 

Honors

1962 - present J.W. Runeberg Prize for Research. The Finnish Medical Society.
1975 - present Member, Finska Vetenskapssocieteten. Finland's Senior Academy of Sciences and Letters.
1981 - present E.J. Nystrom Prize for Research. Finland's Senior Academy of Sciences and Letters.
1984 - present Commander of the Order of the Finnish Lion.
1985 - present 150 Year Anniversary Prize for Researach. The Finnish Medical Society.
1988 - present Jubilee Medal 1958 in Broze with Diploma. The Swedish Society of Medicine.
1989 - present 175 Year Anniversary Commemorative Medal. Oslo University School of Medicine.
1989 - present The Anders Jahre Prize for Medicine. University of Oslo, Sweden.
1990 - present The Matti Ayrapaa Prize for Medicine. Medical Society Fuodecim, Finland.
1991 - present Royal Swedish Academy of Sciences. Royal Swedish Academy of Sciences.
1992 - present Comander, of the Order of the White Rose of Finland. Finland.
1994 - present International Phoenix - Anni Verdi Award for Genetic Research. Italy.
1995 - present Honorary Doctorate. University of Oulu.
1995 - present Honorary Doctorate. University of Uppsala.
1996 - present Esko Nikkila Lecturer.
1996 - present Hamilton Fairley Award. European Society for Medical Oncology.
1997 - present Fellow ("one of twelve") of the Academy of Finland.
1997 - present National Academy of Sciences.
1998 - present Tim de Dombal Award and Lectureship. World Congress of Gastroenterology.
1998 - present Wick R. Williams Memorial Award.
1998 - present Simon M. Shubitz Award.
2002 - present Mauro Baschirotto Award for Outstanding Achievement in Human Genetics, European Society of Human Genetics. European Society of Human Genetics.
2002 - present AAAS Fellow.
2002 - present William Allan Award.
2003 - present The Ossian Schauman Medal. Samfundat Folkhalsan.
2003 - present Niilo Voipio Award. The Finnish Cancer Organizations.
2004 - present Distinguished University Professor. Office of Academic Affairs.
2006 - present GfH Medal of Honor.
 

Journal Articles

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"Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development." CANCER RESEARCH. Vol. 69, (May 2009.): -.

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"The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease." GUT. Vol. 59, no. 10. (October 2010.): -.

 

Reference Works

January 2005 Marcucci G, Baldus CD, Ruppert AS, Radmacher MD, Mrózek K, Whitman SP, Kolitz JE, Edwards CG, Vardiman JW, Powell BL, Baer MR, Moore JO, Perrotti D, Caligiuri MA, Carroll AJ, Larson RA, de la Chapelle A, Bloomfield CD."Overexpression of the ERG gene is an adverse prognostic factor in acute myeloid leukemia (AML) with normal cytogenetics (NC): a Cancer and Leukemia Group B Study (CALGB)" . : #23
January 2005 Katz ML, Ferketich A, Paskett ED, Westman J, Lemeshow S, Clinton S, de la Chapelle A, Bloomfield C."Cancer screening among Amish adults" .
January 2005 Cohn DE, Zanagnolo V, Copeland LJ, Hampel H, de la Chapelle A, Kelbick N, Resnick KE, Morrison CD, Frankel WL, Fowler JM."Improved outcomes with an intact DNA mismatch repair system in endometrial cancer: A tissue microarray study including correlation with surgicopathologic variables" . : p. 86, #32
January 2005 Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Sotamaa K, de la Chapelle A:."Long range PCR facilitates the identification of PMS2 specific mutations" . : #11
January 2005 Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Sotamaa K, de la Chapelle A."Long range PCR facilitates the identification of PMS2 specific mutations" . : p. 210, #1078/F
January 2005 He H, Jazdzewski K, Li W, Liyanarachchi S, Nagy R, Volinia S, Calin GA, Liu C-G, Franssila K, Suster S, Kloos RT, Croce CM, de la Chapelle A."The role of micro-RNA genes in papillary thyroid carcinoma" . : p.7
January 2005 Hampel H, Panescu J, Sotamaa K, Fix D, Frankel W, Comeras I, Penzone P, Lombardi J, Dunn P, Cohn D, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A."Detection of hereditary nonpolyposis colorectal cancer (HNPCC) among newly diagnosed endometrial cancer patients" . : p. 64, #235
January 2006 Mahooti S, Hampel H, LaJeunesse J, Sotamaa K, de la Chapelle A, Frankel WL."Amsterdam criteria, Bethesda guidelines and histologic findings in 34 patients with hereditary nonpolyposis colorectal cancer" . : 113A
January 2006 Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Sotamaa K, de la Chapelle A."Long range PCR facilitates the identification of PMS2 specific mutations" . : p.73
January 2006 Pasche B, Knobloch TJ, Bian Y, Liu J, Phukan S, Rosman D, Kaklamani V, Baddi L, Siddidqui FS, Frankel W, Prior TW, Schuller DE, et al."Somatic acquisition and signaling of TGFBR1*6A in Cancer" . : 105
January 2006 Mahooti S, Hampel H, LaJeunesse J, Sotamaa K, de la Chapelle A, Frankel WL."MLH1 and PMS2 protein expression in 103 colorectal carcinomas with MLH1 promoter methylation and without MLH1 or PMS2 germline mutation" . : 113A
January 2006 De Lott LB, Smith WM, Lehman A, de la Chapelle A, Frankel WL."CDX2 staining is decreased in microsatellite unstable colorectal carcinomas" . : 106A
March 2006 de la Chapelle A."The genetic predisposition to colon cancer" . : 20
February 2007 Sotamaa K, Tanner SM, de la Chapelle A."Heritable predisposition to epigenetic silencing of MLH1" . : #94
January 2007 Jenkins MA, Baglietto L, Dowty JG, Vasen HF, de la Chapelle A, Hampel HL, Dunlop MB, Thibodeau SN, Lindor NM."Risk of cancer in MSH6 mutation carriers: an international collaboration." .
February 2007 Langer C, Ruppert AS, Radmacher MD, Whitman SP, Paschka P, Baldus CD, Mrozek K, Kollitz JE, Marcucci G, de la Chapelle A, Bloomfield CD."High BAALC expression associates with other molecular prognostic markers, poor outcome and a distinct gene expression signature in cytogenetically normal acute myeloid leukemia (CN AML): A Cancer and Leukemia Group B (CALGB) study" . : #73
January 2007 Alam S, Hampel H, Bloomston M, LaJeunesse J, de la Chapelle A, Frankel WL."Tissue microarrays provide a cost-effective method for screening colorectal carcinomas for Lynch syndrome." .
February 2007 Clendenning M, Walsh K, Liyanarachchi S, Fix D, Comeras I, Hampel H, de la Chapelle A."New haplotype and genealogical data give important implications for the origins and prevalence of the American Founder Mutation of MSH2" . : #63
January 2007 Jazdzewski K, Liyanarachchi S, Ambroziak M, Liu C-G, Pachucki J, de la Chapelle A.."MicroRNAs regulate CTLA-4, PTPN22, and CD40 genes expression and contribute to the pathogenesis of Graves’ disease." .
January 2007 Jazdzewski K, Murray EL, He H, Nagy R, Franssila K, Jarzab B, Suster S, Kloos RT, Schoenberg DR, de la Chapelle A."Polymorphism and somatic mutation within pre-miR146a change the predisposition to Papillary Thyroid Carcinoma (PTC)" . : # 85057
January 2007 Raval A, Tanner SM, Byrd JC, Angerman EB, Perko JD, Chen S-S, Hackanson B, Grever MR, Lucas DM, Matkovic JJ, Lin TS, Kipps TJ, Murray F, Weisenburger D, Sanger W, Lynch J, Watson P, Jansen M, Yoshinaga Y, Rosenquist R, De Jong PJ, Coggill P, Beck S, Lynch, de la Chapelle A, Plass C."Loss or reduced expression of DAPK1 contributes to heritable predisposition to CLL" . : LB-186
November 2007 Senter L, Clendenning M, Hampel H, Sotamaa K, de la Chapelle A."Clinical phenotype of individuals with germline mutations in the PMS2 gene." . : 31-32
January 2007 South CD, Hampel H, Comeras I, Westman J, de la Chapelle A."Prevalence of Muir-Torre syndrome in a Lynch syndrome database" .
January 2008 He H, Nagy R, Jiao H, Liyanarachchi S, Li W, Kere J, de la Chapelle A."A susceptibility locus for papillary thyroid carcinoma maps to chromosome 8q24." . : 4688
January 2008 de la Chapelle A."The role of founder mutations in Lynch syndrome" .
January 2008 Jazdzewski K, Liyanarachchi S, Pachucki J, de la Chapelle A."Alternative mature microRNAs from passenger strand of pre-miR-146A contribute to predisposition to papillary thyroid carcinoma" . : 185
January 2009 Jendrzejewski J, Tomsic J, Li W, He H, de la Chapelle A."Telomere length and telomerase reverse transcriptase gene copy number in patients with papillary thyroid carcinoma" . : #86
April 2009 Gudmundsson J, Sulem P, Jonasson JG, Gudbjartsson D, He H, Geller F, Stacey SN, Li W, Nagy R, Aguillo E, Faure E, Prts E, Saez B, Godino J, Kristvinsson H, Gulcher JR, Jonsson T, Rafnar T, Hjartarsson H, Mayordomo JI, de la Chapelle A, Hrafnkelsson J, Thorsteindottir U, Kong A, Stefansson K."Common sequence variants confer susceptibility to thyroid cancer: Results from a genome-wide association study." . : 1906
May 2009 Parry S, Walsh MD, Pearson S-A, Buchanan D, Walters R, Sweet K, de la Chapelle A, Walker NI, Young J."Does expression of the gastric mucin MUC6 help identify advanced serrated colorectal polyps?" . : A450-A451
January 2009 Jazdzewski K, Liyanarachchi S, Swierniak M, Pachucki J, Ringel MD, Jarzab B, de la Chapelle A."Polymorphic mature microRNAS from passenger strand of pre-mir-146a contribute to thyroid cancer" . : #85

Inventions and Patents

Means for detecting familial colon cancer (FCC)

Anhidrotic ectodermal dysplasia gene and method of detecting same

Human MSH protein

Molecular cloning of the anhidrotic ectodermal dysplasia gene

Diagnositc method employing MSH2 nucleic acids

Diagnostic method employing MSH2 protein

 

Presentations

Is Predictive Testing for Common Cancers Now a REality?

Molecular Screening Strategies to Identify Individuals at High Risk for Colorectal and Endometrial Cancer

From Laboratory to Clinic: The Impact of the Discovery of Genes for Hereditary Colon Cancer on Current Patient Management

Colon Cancer Genetics

Molecular Genetic Diagnosis for Hereditary Cancer

Hereditary Colon Cancer

Hereditary Cancer Susceptibility Syndromes

Genetic Predisposition to Colorectal Cancer

Genetic Predisposition to Colon Cancer

Genes Predisposing to Colorectal Cancer

Genes Predisposing to Colon Cancer

Genetic Predisposition to Cancer. (in Swedish)

Population-wide Molecular Screening for HNPCC-Should it be Done

Molecular Genetics of Colon Cancer in the Clinical Context

Has Gene Discovery Benefitted the Colorectal Cancer Patient?

Cancer is a Genetic Disease

Cancer is a Genetic Disease

Population-based Molecular Screening for HNPCC and its Implications

Population-based Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer and its Implications

Methylation and Imprinting in Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer: Population-based Molecular Screening and its Implications

Hereditary Nonpolyposis Colorectal Cancer: Natural History, Mutation Detection and Molecular Screening

Hereditary Colon Cancer: Molecular Diagnosis, Population-wide Screening and Prevention

Has Gene Detection Benefitted the Cancer Patient

Genetic Predisposition to Colorectal Cancer

Can Genetic Testing be Used in the Prevention of Cancer?

Translational Cancer Genetics: From Mismatch Repair Deficiency to Cancer Prevention

Molecular Screening for Mismatch Repair Related Cancer

Inherited Human Diseases: Challenges, Victories and Disappointments

Genetic and Epigenetic Predisposition to Colon Cancer

BAALC, the Human Member of a Novel Mammalian Neuroectoderm Gene Lineage, is Implicated in Hematopoiesis and Acute Leukemia

The Genetics of Selective Intestinal Malabsorption of Vitamin B12

Population-based Screening for Predisposition to Cancers Caused by Mismatch Repair Deficiency.

Microsatellite Instability Versus Immunohistochemistry in the Screening for Mismatch Repair Deficiency

The Genetics of Selective Intestinal Malabsorption of Vitamin B12

How Should the Screening and Surveillance of Hereditary Colon Cancer be Organized in Finland

Is Large Scale Molecular Screening for Hereditary Colorectal Cancer Feasible?

A Geneticist's Perspective on Lynch Syndrome

Update on HNPCC

Genetic and Epigenetic Predisposition to Colon Cancer

Ossian Schauman's Institute of Genetics

Challenges of 'New' Genes: BAALC in Acute Leukemia

Genes in the Predisposition to Colon Cancer

Genetic Predisposition to Colon Cancer

Genetic Predisposition to Colon Cancer

Genetic Predisposition to Colon Cancer

Hereditary colorectal Cancer: How to Integate Testing into Clinical Practice

The Genetic Predisposition to Colon Cancer

A Proposal to Screen all Colorectal Cancer Patients for Predisposing Mutations

Screening for Lynch Syndrome

Mutations in the PMS2 Gene

Colon Cancer Genes

Genetic Testing for Colorectal Cancer Predisposition

Genes in the Predisposition to Colon Cancer

Genes in the Predisposition to Colon Cancer

Genetic Predisposition to Colorectal Cancer

High- and low-penetrance genes in cancer predispositions

Genetic predisposition to cancer

Genes predisposing to colon cancer

Genetic predisposition to cancer

Genetic predisposition to cancer

 

Professional Activities

1977 - present President. Sixth International Chromosome Conference.
1977 - present Head of Organizing Committee. International Symposium on Clinical Genetics.
1977 - present Co-Organizer. First International Workshop on Chromosomes in Leukemia.
1984 - present President. Third Nordic Conference on Medical Genetics.
1985 - present European School of Haematology.
1985 - present Organizer. Eighth Human Gene Mapping Workshop.
1986 - present Howard Hughes Medical Institute.
1986 - present The Ninth International Chromosome Conference.
1986 - present The Seventh International Congress of Human Genetics.
1988 - present Association des Cytogeneticiens de Langue Francaise.
1988 - present The International Olympic Committee.
1989 - present Human Genome Organization (HUGO).
1989 - present The Tenth International Chromosome Conference.
1990 - present Scientific Advisory Board Member. Department of Medical Genetics, University of Uppsala, Sweden.
1990 - present Department of Medical Genetics, University of Uppsala, Sweden.
1990 - present Centre d'Etude du Polymorphisme Humaine.
1994 - present Genome Interactive Databases.
1994 - present European Union.
1995 - present Chairman. Famfundet Folkhalsan, Committee for the Genetics Clinic.
1996 - present European commission Working Group on Cancer Research.
1997 - present Member of the Genetics Advisory Group. The Wellcome Trust.
1997 - present Faculty member. First Baltic Postgraduate Course in Medical Genetics, Vilnius, Lithuania.
1997 - present General Motors Mott Prize Selection Committee.
2000 - present Member of Council. International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer.
2003 - present External Advisory Board Member. Cleveland G-I SPORE.
2004 - present Advisory Board Member. Genome Atlantic, Canada.
2006 - present External Advisory Board Member. Case Western Reserve University Cancer Genetics Program.
2007 - present Member. International Multidisciplinary Community Genetics Network.
1974 - 1976 European Environmental Mutagen Society.
1977 - 1980 The Finnish Society of Medical Genetics.
1983 - 1985 Chairman. International Human Gene Mapping Workshops.
1981 - 1986 Member of permanent committee. International Congress of Human Genetics.
1984 - 1990 International Workshops on Chromosomes in Leukemia.
1986 - 1990 International Conference on Prenatal Dignosis & Therapy.
1990 Co-Organizer. Nobel Symposium on th eEtiology of Human Disease at the DNA level.
1983 - 1991 International Human Gene Mapping Workshops.
1988 - 1991 The Eighth International Congress of human Genetics.
1990 - 1991 Chairman, Aims and Statutes Committee. European Society of Human Genetics.
1990 - 1991 European Society of Human Genetics.
1991 - 1992 Gene Mapping Committee.
1993 Organizer. Research Conference on Inherited Disorders & Their Genes in Different European Populations.
1993 - 1994 President. European Society of Human Genetics.
1993 - 1994 Member of planning committee for a Finnish genome initiative. Academy of Finland.
1993 - 1994 European Society of Human Genetics.
1966 - 1995 European Society of Human Genetics.
1990 - 1997 Nordic Human Genome Project.
1990 - 1997 European Union.
1992 - 1997 European Union.
1994 - 1997 European Union.
1995 - 1998 Consultant. Swedish Cultural Foundation of Finland.
1998 Teaching. University of Helsinki, course on Chromosome and Gene Alterations in Cancer.
1999 Reviewer. MIT Cancer Center, NCI site visit.
1996 - 2000 Permanent member. Finnish National Board of Medicolegal Affairs.
2003 - 2004 Reviewer. Centres of Excellence Program, Denmark.