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Division of Human Genetics   

Agnese DM.  Battle of the BRCA1/BRCA2 (offspring) sex ratios: truth or consequences?  J Med Genet 2006;43:201-202.

Agnese DM, Hampel H, Farrar WB. Utilization of genetic counseling services by surgical oncologists: education a must. Clin Genet 2006;70(6):524-5.

Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Senter L, Sotamaa K, de la Chapelle A. Long range PCR facilitates the identification of PMS2- specific mutations. Human Mutation 2006;27(5):490-495.

Cohn DE, Frankel WL, Resnick KE, Zanagnolo VL, Copeland LJ, Hampel H, Kelbick N, Morrison CD, Fowler JM.  Improved survival with an intact DNA mismatch repair system in endometrial cancer. Obstet Gynecol  2006;108(5):1208-15.

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. Hereditary Breast Cancer Clinical Study Group (Gilchrist D, Weber B, Rebbeck T, Isaacs C, Neuhausen S, Garber J, Karlan B, Fishman D, Merajver S, McKinnon W, Wood M, Evans G, Moller PB, Pasini B, Sweet K, Eng EG, Rennert G, Couch F, McLennan J, Provencher D.)  Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update.  Int J Cancer 2006 May 1;118(9):2281-4.

Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Cendenning M, Penzone P, Lombardi J, Dunn P, Cohn DE, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A. Screening for lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer) among endometrial cancer patients. Cancer Res 2006;66(15):7810-7817.

Lynch HT, de la Chapelle A, Hampel H, Wagner A, Fodde R, Lynch JF, Okimoto R, Clark MB, Soronel S, Trowonou A, Fu YX, Haynatzki GR, Gong G. American Founder mutation for Lynch syndrome – Prevalence estimates and implications. Cancer 2006;106(2):448-452.

Narod S, Lubinski J, Ghadirian P, Lynch HT, Moller P, Foulkes W, Rosen B, Kim-Sing C, Isaacs C, Domchak S, Sun P. Hereditary Breast Cancer Clinical Study Group (Wagner T, Ainsworth P, Chudley A, Eisen A, Golcrist D, Lemire E, Provencher D, Pasini B, Bellati C, Couch F, Daly, M., Eng C, Fishman,D, Karlan B, McLennan J, McKinnon W, Merajver S, Neuhasen S, Pasche B, Olopade O, Osborne M, Sweet K, Saal H, Tung N, Weitzel J, Wood M.)  Screening mammography and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.  Lancet Oncol 2006;7(5):402-6.

Nuovo GJ, Nakagawa H, Sotamaa K, de la Chapelle A. Hypermethylation of the MLH1 promoter with concomitant absence of transcript and protein occurs in small patches of crypt cells in unaffected mucosa from sporadic colorectal carcinoma.  Diag Mol Pathol 2006;15:17-23.

Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes AM, Peltomaki P, Mangold E, de la Chapelle A, Greenblatt M, Nystrom M. Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. Gastroenterology 2006;131(5):1408-17.

Pezzolesi M, Li Y, Zhou XP, Pilarski R, Shen L, Eng C. Mutation positive and mutation negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome associated with distinct 10q haplotypes. Am J Hum Genet 2006 Nov;79(5):923-34.

Pyatt RE, Pilarski R, Prior TW. Mutation screening in juvenile polyposis syndrome.  J Mol Diagn 2006;8:84-88.

Sarquis M, Agrawal S, Shen L, Pilarski R, Zhou XP, Eng, C. Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Hum Genet 2006;79:23-30.

Tekin M, Ozturk Hismi B, Fitoz S, Yalcinkaya F, Ekim M, Kansu A, Ertem M, Deda G,

Tutar E, Arsan S, Zhou XP, Pilarski R, Eng C, Akar N. A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus. Am J Med Genet 2006;Part A 140A:1472-1475.

Yearsley M, Hampel H, Lehman A, Nakagawa H, de la Chapelle A, Frankel WL. Histologic features distinguish microsatellite high from low and stable colorectal carcinomas, but do not differentiate germline mutations from methylation of the MLH1 promoter. Hum Pathol 2006;37:831-838.

Zervos EE, Tanner SM, Osborne DA, Bloomston M, Rosemurgy AS, Ellison EC, Melvin WS, de la Chapelle A. Differential gene expression in patients genetically predisposed to pancreatic cancer.  J Surg Res 2006;135:317-322.