Heather L. Hampel, M.S., CGC
Phone:  614-293-6694
Fax: 614-293-2314
heather.hampel@osumc.edu

 
Publications 

1.           Neuhausen S, Gilewski T, Norton L, Tran T, McGuire P, Swensen J, Hampel H, Borgen P, Brown K, Skolnick M, Shattuck-Eidens D, Jhanwar S, Goldgar D, Offit K. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer.  Nat Genet 1996; 13(1):126-8.  

2.     Offit K, Gilewski T, McGuire P, Schluger A, Hampel H, Brown, K, Swenson, J, Neuhausen S, Skolnick M, Norton L, Goldgar D. Germline BRCA1 185delAG mutations in Jewish women affected by breast cancer.  Lancet 1996; 347(9016):1643-5.  

3.           Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtiian S, Teng DHF, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, Holmen J, Lingenfelter B, Manley S, Fujumura F, Luce M, Ward B, Cannon-Albright L, Steele L, Offit K, Gilewski T, Norton L, Brown K, Schulz C, Hampel H, Schluger A, Giulotto E, Zoli W, Ravaioli A, Nevanlinna H, Pyrhonen S, Rowley P, Scalia J, Michaelson R, Scottt R, Radice P, PierottiM, Garber J, Isaacs C, Peshkin B, Lippman M, Dosik M, Caligo M, Greenstein R, Pilarski R, Weber B, Burgemeister R, Frank T, Skolnick M, Thomas A. BRCA1 sequence Analysis in women at high risk for susceptibility mutations.  JAMA 1997; 278(15):1242-50.

4.           Laken S, Petersen G, Gruber S, Oddoux C, Ostrer H, Giardiello F, Hamilton S, Hampel H, Markowitz A, Klimstra D, Jhanwar S, Winawer S, Offit K, Luce M, Kinzler K, Vogelstein B.  Familial colorectal cancer in Askenazim due to a hypermutable tract in APC.  Nat Genet 1997; 17:79-83. 

5.           Frank TS, Manley SA, Olufunmilayo OI, Cummings S, Garber JE, Bernhardt B, Antman K, Russo D, Wood ME, Mullineau L, Isaacs C, Peshkin B, Buys S, Venne V, Rowley PT, Loader S, Offit K, Robson M, Hampel H, Brener D, Winer EP, Clark S, Weber B, Strong LC, Rieger P, McClure M, Ward BE, Shattuck-Eidens D, Oliphant A, Skolnick MH, Thomas A. Sequence Analysis of BRCA1 and BRCA2: Correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 1998; 16(7):2417-2425.

6.           Hampel H. Cancer risk assessment & genetic testing: Coming of age in the community setting. Oncology Issues 1999; 14(4);14-15.

7.           Hampel H, Allen CM, Chernausek SD, Prior TW, Eng C.   De novo RET mutation positive Multiple Endocrine Neoplasia Type 2B and hereditary Nonpolyposis Colorectal Cancer Syndrome occurring in the same family: Parent-of-origin and mismatch repair. The Journal of Endocrine Genetics 2000; 1(3):143-147.

8.           Westman J, Hampel H, Bradley T. Efficacy of a touchscreen computer-based family cancer history questionnaire and subsequent cancer risk assessment.  J Med Genet 2000; 37(5):354-360.

9.           Zhou X-P, Marsh DJ, Hampel H, Mulliken JB, Gimm O, Eng C. Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arterio-venous malformations and lipomatosis. Hum Mol Genet 2000; 9(5):765-768.

10.       Hampel H, Peltomaki P.   Hereditary Colorectal Cancer: Risk Assessment and Management. Clin Genet 2000; 58:89-87.

11.       Zhou X-P, Gimm O, Hampel H, Niemann T, Walker MJ, Eng C.  Epigenetic PTEN Silencing in Malignant Melanomas without PTEN mutation. J Med Genet 2000;157(4):1123-1128.

12.       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 ; 2001; 98(26):15044-15049.

13.       Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Jarvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.  Am J Hum Genet, 2001; 69(4):704-711.

14.       Zhou X, Hampel H, Thiele H, Gorlin FJ, Hennekam RC, Parisis M, Winter RM, Eng C. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.  Lancet , 2001; 358(9277):210-211.

15.       Chadwick RB, Pyatt RE, Niemann TH, Richards SK, Johnson CK, Stevens MW, Meek JE, Hampel H, Prior TW, de la Chapelle A. Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma. J Med Genet, 2001; 38(7):461-466.

16.       Eng C, Hampel H, De La Chapelle A. Genetic Testing For Cancer Predisposition. Annu Rev Med. 2001;52:371-400. Review

17.       Pilarski, RT, Hampel H, Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). In : GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [database online]. Copyright, University of Washington , Seattle , November 2001. Available at http://www.geneclinics.org.

18.       Zhou XP, Hampel H, Roggenbuck J, Saba N, Prior TW, Eng C. A 39-bp deletion polymorphism in PTEN in African Americans: implications for molecular diagnostic testing. J Mol Diagn  2002 May;4(2):114-7.

19.       Humar B, Toro T, Graziano F, Muller H, Dobbie Z, Kwang-Yang H, Eng C, Hampel H, Gilbert D, Winship I, Parry S, Ward R, Findlay M, Christian A, Tucker M, Tucker K, Merriman T, Guilford P. Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.Hum Mutat. 2002 May;19(5):518-25.

20.       Nakagawa H, Yan H, Lockman J, Hampel H, Kinzler KW, Vogelstein B, de la Chapelle A. Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.  Cancer Research 2002 August; 62:4579-82.

21.       Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MD, Hampel H, de la Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. The founder mutation MSH2 1906 G à C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet. 2002 Dec;71(6):1395-412.

22.       Pyatt RE, Nakagawa H, Hampel H, Sedra M, Fuchik MB, Comeras I, de la Chapelle A, Prior TW. Identification of a deletion in the mismatch repeair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2.  Clin Genet. 2003 Mar;63(3):215-218.

23.       McGarrity TJ, Wagner Baker MJ, Ruggiero FM, Thiboutot DM, Hampel H, Zhou XP, Eng C. GI polyposis and glycogenic acantosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations. Am J Gastroenterol. 2003 Jun;98(6):1429-34.

24.       Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez JM, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet. 2003 Aug;73(2):404-11.

25.       Nakagawa H, Hampel H, de la Chapelle. Identification and characterization of genomic rearrangments of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques. Hum Mutat. 2003 Sep;22(3):258.

26.       American Society of Clinical Oncology (Advisory Group on Genetic Testing for Cancer Susceptibility). American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol. 2003 Jun 15;21(12):2397-406.

27.       King, M-C, Marks JH, Mandell JB and the New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2: Science.  2003 Oct,302:643-646.

28.       Bennett RL, Hampel H, Mandell JB, Marks JH. Genetic Counselors: translating genomic science into clinical practice. J Clin Investigation. 2003 Nov;112(9):1274-9.

29.       Hampel H, Sweet K, Westman JA, Offit K, Eng C. Referral for cancer genetics consultations: a review and compilations of risk assessment criteria. J Med Genet. 2004;41:81-91.

30.       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.  JAMA. 2004 Feb 11;291(6):718-724.

31.       Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.  Cancer Res. 2004 Jul 15;64(14):4721-7.

32.       Kariola R, Hampel H, Frankel WL, Raevaara TE, De La Chapelle A, Nystrom-Lahti M.  MSH6 missense mutations are often associated with no or low cancer susceptibility. Br J Cancer. Advance online publication; 2004 Oct 4;91(7):1287-92.

33.       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). NEJM. 2005 May 5;352(18):1851-1860.

34.       Hampel H, Stephens JA, Pukkala E, Sankila R, Aaltonen LA, de la Chapelle A. Cancer risk in Hereditary Nonpolyposis Colorectal Cancer syndrome: Later age of onset. Gastroenterology. 2005;129:415-421.

35.       Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lonnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes A-M, Peltomaki P, Kohonen-Corish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nystrom M. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology. 2005;129:537-549.

36.       Pasche B, Knobloch TJ, Bian Y, Liu J, Phukan S, Rosman D, Kaklamani V, Baddi L, Siddiqui FS, Frankel W, Prior TW, Schuller DE, Agrawal A, Lang J, Dolan ME, Vokes EE, Lane WS, Huang CC, Caldes T, Di Cristofano A, Hampel H, Nilsson I, von Heijne G, Fodde R, Murty VV, de la Chapelle A, Weghorst CM.  Somatic acquisition and signaling of TGFBR1*6A in cancer.  JAMA. 2005 Oct 5;294(13):1634-46.

37.       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.

38.       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.

39.       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.

40.       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.

41.       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 Nov;131(5):1408-17.

42.       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 Nov;108(5):1208-15.

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

44.       Chen H, Taylor NP, Sotamaa KM, Mutch DG, Powell MA, Schmidt AP, Feng S, Hampel HL, Chapelle AD, Goodfellow PJ. Evidence for heritable predisposition to epigenetic silencing of MLH1. Int J Cancer. 2007 Feb; 120(8):1684-88.

45.       Hampel H, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, LaJeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, de la Chapelle A, Frankel W, Penzone P, Cohn DE, Copeland L, Eaton L, Fowler J, Lombardi J, Dunn P, Bell J, Reid G, Lewandowski G, Vaccarello L.  Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients.  Cancer Res. 2007 Oct 1;67(19):9603.