Albert de la Chapelle

Focus

Analysis of human cancer genes

Research interests

Dr. de la Chapelle's research focuses on the genetic predisposition to cancer. New genes responsible for colorectal cancer, thyroid cancer, and acute myeloid leukemia are sought. A particular target in acute myeloid leukemia aims at elucidating the molecular mechanisms in cases where the leukemic blast cells have clonal trisomy for chromosome 8. Mutations and polymorphisms in known genes and previously unrecognized genes predisposing to cancer are evaluated. Genetic testing in the management and counseling of cancer patients is investigated. A large study is conducted with the aim of determining what proportion of all colorectal and endometrial cancers are hereditary, in particular, due to HNPCC. A project focuses on cancer incidence and prevention in Ohio's Amish population.

Publications

• Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, LaJeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, 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: Screening for Lynch Syndrome (HNPCC) among endometrial cancer patients. Cancer Res 66:7810-7817, 2006
• Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Grasbeck R, de la Chapelle A: Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Proc Natl Acad Sci U S A. 102:4130-4133, 2005
• Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A: Screening for the Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) New Engl J Med 352:1851-1860, 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. Proc Natl Acad Sci USA 102:19075-19080, 2005
• Lynch HT, Coronel SM, Okimoto R, Hampel H, Sweet K, Lynch JF, Barrows A, Wijnen J, van der Klift H, Franken P, Wagner A, Fodde R, de la Chapelle A: A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA 291:718-724, 2004
• Baldus CD, Liyanarachchi S, Mrozek K, Auer H, Tanner SM, Guimond M, Ruppert AS, Mohamed N, Davuluri RV, Caligiuri MA, Bloomfield CD, de la Chapelle A: Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21:amplification discloses overexpression of APP, ETS2 and ERG genes, PNAS 101:3915-3920, 2004
• Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A: Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nature Genet 33:426-429, 2003
• Tanner SM, Austin JL, Leone G, Rush LJ, Plass C, Heinonen K, Mrozek K, Sill H, Knuutila S, Kolitz JE, Archer KJ, Caligiuri MA, Bloomfield CD, de la Chapelle A: BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia. Proc Natl Acad Sci USA 98:13901-13096, 2001
• Huang Y, Prasad M, Lemon WJ, Hampel H, Wright FA, Kornacker K, LiVolsi V, Frankel W, Kloos RT, Eng C, Pellegata NS, de la Chapelle A: Gene expression in papillary thyroid carcinoma reveals highly consistent profiles. Proc Natl Acad Sci USA 98:15044-15049, 2001
• Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomäki P, Chadwick RB, Kääriänen H, Percesepe A, Ahtola H, Härkönen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Eskelinen M, Järvinen H, Mecklin JP, de la Chapelle A: Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. New Engl J Med 338:1481-1487, 1998