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2001 Polaris Pkwy
Columbus, OH 43240

Phone: (614) 293-7240

Email: doll.22@osu.edu

 

Current OSU Appointment

Professor-Clinical, Human Genetics

 

Advising Narrative

President's Salute to Undergraduate Achievement dinner honoree. Selected me as the faculty mentor who made the biggest difference in her undergraduate work.

Academic Advising

2007 - 2009 Victoria Schunemann The Ohio State University. Graduated 2009.
 

Certifications

1996 - 2016 Diplomate: American Board of Genetic Counseling
 

Degrees

1993 B.S., The Ohio State University

1995 M.S., Sarah Lawrence College

 

Editorial Activities

present Journal of Medical Genetics
present Gynecology
present Gut
present Familial Cancer
present Clinical Genetics
present Cancer
present Genetics in Medicine
2008 - present Journal of Genetic Counseling
2010 - present BMC Gastroenterology
 

Honors

2009 - 2008 Volunteer Assistant Clinical Professor, Department of Analytical and Diagnostic Sciences of the College of Allied Health Sciences.
 

Journal Articles

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.." Nature Genetics. Vol. 13, no. 1. (May 1996.): 126-.

Offit K; Gilewski T; McGuire P; Schluger A; Hampel H; Brown K; Swensen J; Neuhausen S; Skolnick M; Norton L; Goldgar D. "Germline BRCA1 185delAG mutations in Jewish women with breast cancer.." Lancet. Vol. 347, no. 9016. (June 1996.): 1643-.

Shattuck-Eidens D; Oliphant A; McClure M; McBride C; Gupte J; Rubano T; Pruss D; Tavtigian SV; Teng DH; Adey N; Staebell M; Gumpper K; Lundstrom R; Hulick M; Kelly M; Holmen J; Lingenfelter B; Manley S; Fujimura F; Luce M; Ward B; Cannon-Albright L; Steele L; Offit K; Thomas A. "BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.." JAMA: The Journal Of The American Medical Association. Vol. 278, no. 15. (October 1997.): 1242-.

Laken SJ; Petersen GM; Gruber SB; Oddoux C; Ostrer H; Giardiello FM; Hamilton SR; Hampel H; Markowitz A; Klimstra D; Jhanwar S; Winawer S; Offit K; Luce MC; Kinzler KW; Vogelstein B. "Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.." Nature Genetics. Vol. 17, no. 1. (September 1997.): 79-.

Frank TS; Manley SA; Olopade 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; Thomas A. "Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.." Journal Of Clinical Oncology: Official Journal Of The American Society Of Clinical Oncology. Vol. 16, no. 7. (July 1998.): 2417-.

Hampel H. "Cancer risk assessment and genetic testing: Coming of age in the community setting." Oncology Issues: journal of the Association of Community Cancer Centers. Vol. 14, no. 4. (January 1999.): 14-15.

Hampel H; Peltomaki P. "Hereditary colorectal cancer: risk assessment and management.." Clinical Genetics. Vol. 58, no. 2. (August 2000.): 89-.

Zhou XP; 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, arteriovenous malformations and lipomatosis.." Human Molecular Genetics. Vol. 9, no. 5. (March 2000.): 765-.

Westman J; Hampel H; Bradley T. "Efficacy of a touchscreen computer based family cancer history questionnaire and subsequent cancer risk assessment.." Journal Of Medical Genetics. Vol. 37, no. 5. (May 2000.): 354-.

Zhou XP; Gimm O; Hampel H; Niemann T; Walker MJ; Eng C. "Epigenetic PTEN silencing in malignant melanomas without PTEN mutation.." The American Journal Of Pathology. Vol. 157, no. 4. (October 2000.): 1123-.

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." Journal of Endocrine Genetics. Vol. 3, no. 1. (January 2000.): 143-147.

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; Järvinen 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.." American Journal Of Human Genetics. Vol. 69, no. 4. (October 2001.): 704-.

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.." Proceedings Of The National Academy Of Sciences Of The United States Of America. Vol. 98, no. 26. (December 2001.): 15044-.

Eng C; Hampel H; de la Chapelle A. "Genetic testing for cancer predisposition.." Annual Review Of Medicine. Vol. 52, (January 2001.): 371-.

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.." Journal Of Medical Genetics. Vol. 38, no. 7. (July 2001.): 461-.

Zhou X; Hampel H; Thiele H; Gorlin RJ; Hennekam RC; Parisi M; Winter RM; Eng C. "Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.." Lancet. Vol. 358, no. 9277. (July 2001.): 210-.

Pilarski RT; Hampel H; Eng C. "PTEN Hamartoma Tumor Syndrome (PHTS)." GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [Database Online]. (November 2001.): -.

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. Vol. 62, no. 16. (August 2002.): 4579-.

Humar B; Toro T; Graziano F; Müller 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.." Human Mutation. Vol. 19, no. 5. (May 2002.): 518-.

Zhou XP; Hampel H; Roggenbuck J; Saba N; Prior TW; Eng C. "A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.." The Journal Of Molecular Diagnostics: JMD. Vol. 4, no. 2. (May 2002.): 114-.

Hampel H.. Journal of Genetic Counseling. (January 2002.): -.

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 MC; Hampel H; De La Chapelle A; Boyd J; Offit K; Rennert G; Chong G; Ellis NA. "The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.." American Journal Of Human Genetics. Vol. 71, no. 6. (December 2002.): 1395-.

Zhou XP; Waite KA; Pilarski R; Hampel H; Fernandez MJ; 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.." American Journal Of Human Genetics. Vol. 73, no. 2. (August 2003.): 404-.

Offit K; Bertagnolli MM; Bombard AT; Come S; Eng C; Garber JE; Joffe S; Greene MH; Tucker MA; Gruber SB; Guillem JG; Robson M; Halberg FE; Hampel H; Olopade OI; Rieger PT; Rodriquez-Bigas MG; Tomlinson G; Watson MS; Weber BL; Weitzel J; Wiesner GL. "American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility." Journal Of Clinical Oncology: Official Journal Of The American Society Of Clinical Oncology. Vol. 21, no. 12. (June 2003.): 2397-2406.

McGarrity TJ; Wagner Baker MJ; Ruggiero FM; Thiboutot DM; Hampel H; Zhou XP; Eng C. "GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations.." The American Journal Of Gastroenterology. Vol. 98, no. 6. (June 2003.): 1429-.

King MC; Marks JH; Mandell JB. "Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.." Science (New York, N.Y.). Vol. 302, no. 5645. (October 2003.): 643-.

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 repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2.." Clinical Genetics. Vol. 63, no. 3. (March 2003.): 215-.

Nakagawa H; Hampel H; de la Chapelle A. "Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques.." Human Mutation. Vol. 22, no. 3. (September 2003.): 258-.

Bennett RL; Hampel HL; Mandell JB; Marks JH. "Genetic counselors: translating genomic science into clinical practice.." The Journal Of Clinical Investigation. Vol. 112, no. 9. (November 2003.): 1274-.

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: The Journal Of The American Medical Association. Vol. 291, no. 6. (February 2004.): 718-.

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 Research. Vol. 64, no. 14. (July 2004.): 4721-.

Hampel H; Sweet K; Westman JA; Offit K; Eng C. "Referral for cancer genetics consultation: a review and compilation of risk assessment criteria.." Journal Of Medical Genetics. Vol. 41, no. 2. (February 2004.): 81-.

Kariola R; Hampel H; Frankel WL; Raevaara TE; de la Chapelle A; Nyström-Lahti M. "MSH6 missense mutations are often associated with no or low cancer susceptibility.." British Journal Of Cancer. Vol. 91, no. 7. (October 2004.): 1287-.

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: The Journal Of The American Medical Association. Vol. 294, no. 13. (October 2005.): 1634-.

Raevaara TE; Korhonen MK; Lohi H; Hampel H; Lynch E; Lönnqvist KE; Holinski-Feder E; Sutter C; McKinnon W; Duraisamy S; Gerdes AM; Peltomäki P; Kohonen-Ccorish M; Mangold E; Macrae F; Greenblatt M; de la Chapelle A; Nyström M. "Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.." Gastroenterology. Vol. 129, no. 2. (August 2005.): 537-.

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).." The New England Journal Of Medicine. Vol. 352, no. 18. (May 2005.): 1851-.

Hampel H; Stephens JA; Pukkala E; Sankila R; Aaltonen LA; Mecklin JP; de la Chapelle A. "Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.." Gastroenterology. Vol. 129, no. 2. (August 2005.): 415-.

Hampel H; Frankel W; Panescu J; Lockman J; Sotamaa K; Fix D; Comeras I; La Jeunesse J; Nakagawa H; Westman JA; Prior TW; Clendenning 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 Research. Vol. 66, no. 15. (August 2006.): 7810-.

Yearsley M; Hampel H; Lehman A; Nakagawa H; de la Chapelle A; Frankel WL. "Histologic features distinguish microsatellite-high from microsatellite-low and microsatellite-stable colorectal carcinomas, but do not differentiate germline mutations from methylation of the MLH1 promoter.." Human Pathology. Vol. 37, no. 7. (July 2006.): 831-.

Ollila S; Sarantaus L; Kariola R; Chan P; Hampel H; Holinski-Feder E; Macrae F; Kohonen-Corish M; Gerdes AM; Peltomäki P; Mangold E; de la Chapelle A; Greenblatt M; Nyström M. "Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.." Gastroenterology. Vol. 131, no. 5. (November 2006.): 1408-.

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. Vol. 27, no. 5. (May 2006.): 490-.

Agnese DM; Hampel H; Farrar WB. "Utilization of genetic counseling services by surgical oncologists: education a must.." Clinical Genetics. Vol. 70, no. 6. (December 2006.): 524-.

Lynch HT; de la Chapelle A; Hampel H; Wagner A; Fodde R; Lynch JF; Okimoto R; Clark MB; Coronel S; Trowonou A; Fu YX; Haynatzki GR; Gong G. "American founder mutation for Lynch syndrome. Prevalence estimates and implications.." Cancer. Vol. 106, no. 2. (January 2006.): 448-.

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.." Obstetrics And Gynecology. Vol. 108, no. 5. (November 2006.): 1208-.

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 Research. Vol. 67, no. 19. (October 2007.): 9603-.

Chen H; Taylor NP; Sotamaa KM; Mutch DG; Powell MA; Schmidt AP; Feng S; Hampel HL; de la Chapelle A; Goodfellow PJ. "Evidence for heritable predisposition to epigenetic silencing of MLH1.." International Journal Of Cancer. Journal International Du Cancer. Vol. 120, no. 8. (April 2007.): 1684-.

Dai Z; Papp AC; Wang D; Hampel H; Sadee W. "Genotyping panel for assessing response to cancer chemotherapy.." BMC Medical Genomics. Vol. 1, (January 2008.): 24-.

McClain MR; Palomaki GE; Hampel H; Westman JA; Haddow JE. "Screen positive rates among six family history screening protocols for breast/ovarian cancer in four cohorts of women.." Familial Cancer. Vol. 7, no. 4. (January 2008.): 341-.

South CD; Hampel H; Comeras I; Westman JA; Frankel WL; de la Chapelle A. "The frequency of Muir-Torre syndrome among Lynch syndrome families.." Journal Of The National Cancer Institute. Vol. 100, no. 4. (February 2008.): 277-.

Clendenning M; Baze ME; Sun S; Walsh K; Liyanarachchi S; Fix D; Schunemann V; Comeras I; Deacon M; Lynch JF; Gong G; Thomas BC; Thibodeau SN; Lynch HT; Hampel H; de la Chapelle A. "Origins and prevalence of the American Founder Mutation of MSH2.." Cancer Research. Vol. 68, no. 7. (April 2008.): 2145-.

Senter L; Clendenning M; Sotamaa K; Hampel H; Green J; Potter JD; Lindblom A; Lagerstedt K; Thibodeau SN; Lindor NM; Young J; Winship I; Dowty JG; White DM; Hopper JL; Baglietto L; Jenkins MA; de la Chapelle A. "The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.." Gastroenterology. Vol. 135, no. 2. (August 2008.): 419-.

Hampel H; Frankel WL; Martin E; Arnold M; Khanduja K; Kuebler P; Clendenning M; Sotamaa K; Prior T; Westman JA; Panescu J; Fix D; Lockman J; LaJeunesse J; Comeras I; de la Chapelle A. "Feasibility of screening for Lynch syndrome among patients with colorectal cancer.." Journal Of Clinical Oncology: Official Journal Of The American Society Of Clinical Oncology. Vol. 26, no. 35. (December 2008.): 5783-.

Cohn DE; Pavelka JC; Frankel WL; Morrison CD; Hampel H; Copeland LJ; Fowler JM. "Correlation between patient weight and defects in DNA mismatch repair: is this the link between an increased risk of previous cancer in thinner women with endometrial cancer?." International Journal Of Gynecological Cancer: Official Journal Of The International Gynecological Cancer Society. Vol. 18, no. 1. (January 2008.): 136-.

Clendenning M; Senter L; Hampel H; Robinson KL; Sun S; Buchanan D; Walsh MD; Nilbert M; Green J; Potter J; Lindblom A; de la Chapelle A. "A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.." Journal Of Medical Genetics. Vol. 45, no. 6. (June 2008.): 340-.

Valle L; Serena-Acedo T; Liyanarachchi S; Hampel H; Comeras I; Li Z; Zeng Q; Zhang HT; Pennison MJ; Sadim M; Pasche B; Tanner SM; de la Chapelle A. "Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.." Science (New York, N.Y.). Vol. 321, no. 5894. (September 2008.): 1361-.

Backes FJ; Leon ME; Ivanov I; Suarez A; Frankel WL; Hampel H; Fowler JM; Copeland LJ; O'Malley DM; Cohn DE. "Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer.." Gynecologic Oncology. Vol. 114, no. 3. (September 2009.): 486-.

Resnick K; Straughn JM Jr; Backes F; Hampel H; Matthews KS; Cohn DE. "Lynch syndrome screening strategies among newly diagnosed endometrial cancer patients.." Obstetrics And Gynecology. Vol. 114, no. 3. (September 2009.): 530-.

de la Chapelle A; Palomaki G; Hampel H. "Identifying Lynch syndrome.." International Journal Of Cancer. Journal International Du Cancer. Vol. 125, no. 6. (September 2009.): 1492-.

Hampel H. "Recontacting patients who have tested negative for BRCA1 and BRCA2 mutations: how, who and why?." Journal Of Genetic Counseling. Vol. 18, no. 6. (December 2009.): 527-.

South,Christopher,D; Yearsley,Martha; Martin,Edward; Arnold,Mark; Frankel,Wendy; Hampel,Heather. "Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancer." GENETICS IN MEDICINE. Vol. 11, no. 11. (November 2009.): 812-817.

Backes,Floor,J; Hampel,Heather; Backes,Katherine,A; Vaccarello,Luis; Lewandowski,George; Bell,Jeffrey,A; Reid,Gary,C; Copeland,Larry,J; Fowler,Jeffrey,M; Cohn,David,E. "Are prediction models for Lynch syndrome valid for probands with endometrial cancer?." Familial Cancer. Vol. 8, no. 4. (December 2009.): 483-487.

Hampel H, Frankel W, de la Chapelle A. "A Reply to LH Jensen et al and S. Jahn et al.." Journal of Clinical Oncology. Vol. 27, no. 34. (January 2009.): E225-E225.

Hampel H. "Genetic testing for hereditary colorectal cancer.." Surgical Oncology Clinics Of North America. Vol. 18, no. 4. (October 2009.): 687-.

Palomaki GE; McClain MR; Melillo S; Hampel HL; Thibodeau SN. "EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome.." Genetics In Medicine: Official Journal Of The American College Of Medical Genetics. Vol. 11, no. 1. (January 2009.): 42-.

Resnick KE; Hampel H; Fishel R; Cohn DE. "Current and emerging trends in Lynch syndrome identification in women with endometrial cancer.." Gynecologic Oncology. Vol. 114, no. 1. (July 2009.): 128-.

Hampel H; Grubs RE; Walton CS; Nguyen E; Breidenbach DH; Nettles S; Callanan N; Corliss M; Fox S; Hiraki S; Ku L; Neufeld-Kaiser W; Riley B; Taylor J; Weik L. "Genetic counseling practice analysis.." Journal Of Genetic Counseling. Vol. 18, no. 3. (June 2009.): 205-.

de la Chapelle,Albert; Hampel,Heather. "Clinical relevance of microsatellite instability in colorectal cancer." JOURNAL OF CLINICAL ONCOLOGY. Vol. 28, no. 20. (July 2010.): 3380-3387.

Tomsic J, Guda K, Liyanarachchi S, Hampel H, Natale L, Markowitz SD, Tanner SM, de la Chapelle A.. "Allele-specific expression of TGFRBR1 in colon cancer patients.." Carcinogenesis. Vol. 31, no. 10. (August 2010.): 1800-1804.

Mvundura,Mercy; Grosse,Scott,D; Hampel,Heather; Palomaki,Glenn,E. "The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer." GENETICS IN MEDICINE. Vol. 12, no. 2. (February 2010.): 93-104.

Baglietto,Laura; Lindor,Noralane,M; Dowty,James,G; White,Darren,M; Wagner,Anja; Garcia,Encarna,BGomez; Vriends,Annette,HJT; Cartwright,Nicola,R; Barnetson,Rebecca,A; Farrington,Susan,M; Tenesa,Albert; Hampel,Heather; Buchanan,Daniel; Arnold,Sven; Young,Joanne; Walsh,Michael,D; Jass,Jeremy; Macrae,Finlay; Antill,Yoland; Winship,Ingrid,M; Giles,Graham,G; Goldblatt,Jack; Parry,Susan; Suthers,Graeme; Leggett,Barbara; Butz,Malinda; Aronson,Melyssa; Poynter,Jenny,N; Baron,John,A; Le Marchand,Loic; Haile,Robert; Gallinger,Steve; Hopper,John,L; Potter,John; De la Chapelle,Albert; Vasen,Hans,F; Dunlop,Malcolm,G; Thibodeau,Stephen,N; Jenkins,Mark,A. "Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers." Journal Of The National Cancer Institute. Vol. 102, no. 3. (February 2010.): 193-201.

Buchanan,Daniel,D; Sweet,Kevin; Drini,Musa; Jenkins,Mark,A; Win,Aung,Ko; Gattas,Michael; Walsh,Michael,D; Clendenning,Mark; McKeone,Diane; Walters,Rhiannon; Roberts,Aedan; Young,Alasdair; Hampel,Heather; Hopper,John,L; Goldblatt,Jack; George,Jill; Suthers,Graeme,K; Phillips,Kerry; Young,Graeme,P; Chow,Elizabeth; Parry,Susan; Woodall,Sonja; Tucker,Kathy; Muir,Amanda; Field,Michael; Greening,Sian; Gallinger,Steven; Green,Jane; Woods,Michael,O; Spaetgens,Renee; De la Chapelle,Albert; Macrae,Finlay; Walker,Neal,I; Jass,Jeremy,R; Young,Joanne,P. "Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study." INTERNATIONAL JOURNAL OF COLORECTAL DISEASE. Vol. 25, no. 6. (June 2010.): 703-712.

Hampel,Heather. "Point: justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer." JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK. Vol. 8, no. 5. (May 2010.): 597-601.

Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garger JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, Nussbaum R, Offit K, Pal T, Pasche B, Pilarski R, Reiser G, Shannon KM, Smith JR, Swisher E, Weitzel JN. "Genetic/familial high-risk assessment: breast and ovarian.." Journal of the National Comprehensive Cancer Network. Vol. 8, no. 5. (May 2010.): 562-594.

Backes,Floor,J; Mitchell,Elizabeth; Hampel,Heather; Cohn,David,E. "Endometrial cancer patients and compliance with genetic counseling: Room for improvement." GYNECOLOGIC ONCOLOGY. Vol. 123, no. 3. (December 2011.): 532-536.

Hampel H, de la Chapelle A. "The search for unaffected individuals with Lynch syndrome: Do the ends justify the means?." Cancer Prevention Research. Vol. 4, (January 2011.): 1-5.

Tomsic,Jerneja; Liyanarachchi,Sandya; Hampel,Heather; Morak,Monika; Thomas,Brittany,C; Raymond,Victoria,M; Chittenden,Anu; Schackert,Hans,K; Gruber,Stephen,B; Syngal,Sapna; Viel,Alessandra; Holinski-Feder,Elke; Thibodeau,Stephen,N; de la Chapelle,Albert. "An American founder mutation in MLH1." INTERNATIONAL JOURNAL OF CANCER. Vol. 130, no. 9. (May 2012.): 2088-2095.

Gerber,Madelyn,M; Hampel,Heather; Schulz,Nathan,P; Fernandez,Soledad; Wei,Lai; Zhou,Xiao-Ping; De la Chapelle,Albert; Toland,Amanda,Ewart. "Evaluation of Allele-Specific Somatic Changes of Genome-Wide Association Study Susceptibility Alleles in Human Colorectal Cancers." PLOS ONE. Vol. 7, no. 5. (May 2012.): e37672-.

Stuenkel,Aaron,J; Campion,Maryann; Allain,Dawn; Hampel,Heather. "Transition to the clinical doctorate: attitudes of the genetic counseling training program directors in North America.." Journal of genetic counseling. Vol. 21, no. 1. (February 2012.): 136-149.

Hampel,Heather; De la Chapelle,Albert. "How do we approach the goal of identifying everybody with Lynch Syndrome?." Familial cancer. Vol. 12, no. 2. (June 2013.): 313-317.

 

Reference Works

January 1996 Markowitz AJ, Zauber A, Breite I, Gerdes H, Shike M, Kurtz RC, Guillem J, Cohen A, Offit K, Taylor F, Kuhn T, Bloch A, Hampel H, Wu D, Lin KH, Agrawal N, Hjhanwar S, Winawer SJ."Colorectal Cancer Prevention Program (CCPP)" .
January 1996 Hampel H, Kuhn T, Markowitz A, Lin KH, Li SQ, Brown K, Schulz C, Winawer SJ, Taylor F, McGuire P, Schluger A, Peshkin B, Offit K."Mass family history screening of patients at a comprehensive cancer center; Risk Assesment Through the use of scannable forms and computerized algorithms" .
January 1996 Hampel H, Kuhn T, Markowitz A, Lin KH, Li SQ, Brown K, Schulz C, Winawer SJ, Taylor F, McGuire P, Schluger A, Peshkin B, Offit K."The use of optically scannable forms and computerized algorithms for mass family history cancer risk assessment" . : A56
January 1996 Haas B, Forsyth I, Hochhauser D, Neuhausen S, Gilewski T, Hampel H, Brown K, Borgen P, Norton L, Offit K."Frequent occurrence of specific germline mutations of BRCA1 and BRCA2 in Ashkenazi Jewish women with breast cancer" . : A76
January 1997 Popplewell L, Markowitz A, Brener D, Kuhn T, Hampel H, Winawer S, Offit K."An association between lymphoma and hereditary nonpolyposis colorectal cancer" .
January 1999 Scheuer L, Robson M, Hampel H, Borgen P, Norton L, McDermott D, Pinto M, Hull J, Baum R, Nafa K, Ellis N, Schluger A, Offit K."Frequency of BRCA mutations among a series of Ashkenazi Jewish men diagnosed with breast cancer" . : A321
January 1999 Graham JS, Bradley, TL, Hampel H, Westman JA."Jameslink: An innovative touch-screen kiosk system for tailored cancer risk assessment and notification" . : A82
January 1999 Hampel H, Poling BA, Curtis M, Mascari M, Fromkes JJ, Eng C."Familial Barrett Esophagus: A true hereditary cancer syndrome" . : A40
January 1999 Chadwick RB, Prior TW, Pyatt R, Johnson CGT, Niemann TH, Hampel H, Graham J, de la Chapelle, A."Absence of germline MSH6 mutations in hereditary nonpolyposis colorectal cancer (HNPCC) and endometrial cancer kindreds" . : A121
January 2000 Zhou XP, Hampel H, Hennekam R, Mulliken J, Winter R, Gimm O, Eng C."PTEN mutations in Proteus and Proteus-like syndromes" . : 346
January 2001 Eng C, Zhou XP, Hampel H, Kurose K, Aldred M, Houlston R, Aaltonen LA, Tomlinson IPM."Germline mutations in BMPR1A, a TGFBR-SMAD family member, cause a subset of juvenile polyposis syndrome and Bannayan-Riley-Ruvalcaba syndrome" . : 191
January 2001 Pyatt RE, Hampel H, Sedra M, Schafer RW, Fuchik MB, Comeras I, de la Chapelle A, Prior TW."Identification of a deletion in the DNA mismatch repair gene MSH2 by Southern blot analysis" . : 254
January 2001 Huang Y, Pellgata N, Frankel W, LiVolsi V, Eng C, Hampel H, Lemon W, Wright F, Kornacker K, Kloos RT, Farrar WB, Schuller DE, Krahe R, de la Chapelle A."Identifying genes involved in genetic predispotion to papillary thyroid carcinoma" . : 264
October 2002 Fernandez MJ, Zhou XP, Hampel H, Boru G, Eng C."Germline missense and nonsense PTEN mutations result in splice aberrations in patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes" . : Supplement 213
October 2002 Zhou X, Hampel H, Aulik M, Pilarski, R and Eng C."Germline PTEN deletions cause a subset of classic Cowden syndrome and Bannayan-Riley-Ruvalcaba syndromes" . : Supplement 181
January 2003 Yearsley MM, Hampel H, Lehman A, Nakagawa H, de la Chapelle A, Frankel WL."Histological features are associated with microsatellite unstable colorectal carcinomas but not mutation status or MLH1 promoter methylation" . : 138A
January 2003 Frankel WL, Hampel H, Nakagawa H, Morrison C, de la Chapelle A."Immunohistochemistry for MLH1, MSH2, MSH6 and PMS2 identifies most cases with germline HNPCC mutations and methylation of the MLH1 promoter" . : 118A
January 2003 Nakagawa H, Hampel H, de la Chapelle A, Frankel WL."Concordance of immunohistochemistry among HNPCC heterodimers MLH1 and PMS2, and MSH2 and MSH6 in microsatellite unstable colorectal and endometrial carcinomas" . : 128A
November 2003 Hampel H, Sweet K, Westman JA, Eng C."Development and use of risk assessment criteria to evaluate cancer family histories" . : Supplement 404
November 2003 Zhou XP, Waite, KA, Pilarski R, Fernandez MJ, Hampel H."Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome results in aberrant protein and dysregulation of the P13-kinase/AKT pathway" . : Supplement 173
November 2003 Goulet M, Ahonen L, Hampel H, Nagy R, Sweet K, Vassy L, Sickle-Santanello B, Eng C."Novel approach to improved access to cancer genetics services: The Columbus Ohio Solution" . : Supplement 406
January 2003 Hampel H, Yearsley MM, Nakagawa H, Lehman A, de la Chapelle A, Frankel WL."Histologic features in microsatellite unstable and stable endometrial carcinomas" . : 191A
January 2004 Lynch HT, Coronel SM, Okimoto R, Hampel H, Sweet K, Lynch JF, Fodde R, Drouhard T, Wagner A, de la Chapelle A."Lynch syndrome founder mutations in families of Navajo and German-American heritage" . : Supplement 9511
January 2005 Lynch HT, de la Chapelle A, Hampel H, Wagner A, Fodde R, Okimoto R, Clark MB, Coronel S, Trowonou A, Haynatzki GR, Gong G."The American Founder mutation for Lynch syndrome: Prevalence and cancer control implications" . : 838S
January 2005 Hampel H, Panescu J, Kahala K, Fix D, Frankel W, Westman J, Comeras I, Penzone P, Lombardi J, Fowler J, Cohn D, Eaton L, Copeland L, Vaccarello L, Lewandowski G, Reid G, Bell J, de la Chapelle A."Detection of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) among a case series of newly diagnosed endometrial cancer patients" . : 55
January 2005 Frankel WL, Hampel H, LaJeunesse J, Panescu J, Jones S and de la Chapelle A."Immunohistochemical staining for MLH1, MSH2 And MSH6 identifies germline mutations in mismatch repair genes in colorectal and endometrial cancers initially found to be microsatellite stable" . : 103A
October 2005 Agnese D, Hampel H, Eng C."Utilization of genetic counseling services by surgical oncologists: education a must" . : 221
January 2005 Merati K, Wen P, De Lott LB, Hampel H, de la Chapelle A and Frankel WL."Microsatellite stable and unstable mucinous colorectal adenocarcinomas show similar expression profiles for MUC1, MUC2, MUC4 and MUC5AC but differ in MUC6" . : 112A
January 2005 De Lott LB, Smith WM, Wen P, Lehman A, Hampel H, de la Chapelle A and Frankel WL."Differential expression of mucins (MUC1, MUC2, MUC4, MUC5AC AND MUC6) in microsatellite stable and unstable colorectal cancers and correlation with CDX-2" . : 101A
October 2005 Hampel H, Panescu J, Sotamaa K, Fix D, Frankel W, Comeras I, Penzone P, Lombardi J, Dunn P, Dohn 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" . : 64
October 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" . : 210
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 Mahooti S, Hampel H, LaJeunesse J, de la Chapelle A, Frankel WL."Amsterdamn criteria, Bethesda guidelines, and histologic findings in 34 patients with Hereditary Nonpolyposis Colorectal Cancer" . : 113A
October 2007 Clendenning M, Senter L, Hampel H, Lindblom A, Lagerstedt Robinson K, Nilbert M, Green J, Potter JD, de la Chapelle A."A recurrent frame-shift mutation of PMS2 occurs within a short common haplotype from ostensibly unrelated individuals and is suggestive of an early founding event" .
October 2007 Carpiniello L, Terdiman J, Blanco A, Hampel H."Evaluation of the accuracy of quantitative models in predicting Lynch syndrome mutations in a population-based sample of early onset colorectal cancer patients" .
March 2007 Yearsley MM, Hampel H, Marsh WL, Cook SS, Frankel WL."Routine use of immunohistochemistry for the mismatch repair proteins on unselected CRC: An intial experience" . : 2
March 2007 Walsh KM, Hampel H, Clendenning M, de la Chapelle A, Crews DE."Genealogical research and genetic haplotyping of American founder mutation patients point to shared ancestry in eighteenth century German-Americans" . : 2
March 2007 Pham J, Bloomston M, Hampel H, Agnese, DM, Frankel, WL."The expression mismatch repair proteins, 0(6) - Methylguanine-DNA methyltransferase (MGMT), beta-catenin and p53 in appendiceal adenocarcinomas" . : 2
October 2007 Rooney E, Hampel H, Shulman L, Weissman S."Knowledge of Lynch syndrome amongst a sample of U.S. gynecologists" .
March 2007 Alam S, Hampel H, Bloomston A, LaJeunesse J, de la Chapelle A, Frankel WL."Tissue microarrays provide a cost-effective method for screening colorectal carcinomas for Lynch syndrome" . : 2
September 2008 Hampel H, Sturm A, Westman J, Erdman S."Reclassification of the L555R missense mutation in MLH1 as a pathogenic mutation" .
January 2009 Aguilera-Barrantes I, Hampel H, Westman R, et al."Immunohistochemical screening for Lynch syndrome in patients with urothelial carcinoma of the renal pelvis and ureter does not correlate with clinical screening parameters" . : 153A
January 2009 Yearsely MM, Belizzi AM, South CD, et al."Routine mismatch repair protein immunostaining in colorectal carcinomas - equivocal MSH6 staining is a challenge" . : 153A
February 2009 Resnick KE, Backes F, Hampel H, et al."A cost-effectiveness analysis of Lynch syndrome screening among newly diagnosed endometrial cancer patients" . : S4
February 2010 Bellizzi AM, Crowder CD, Marsh WL, Hampel H, Frankel WL."Mismatch repair status in a cohort of rectal adenocarcinomas before and after chemoradiation" . : 137A
August 2010 Frankel, WL, Liu JJ, Hampel H, Bellizzi AM."Mismatch repair status in seventy biliary tract carcinomas" . : 355A
August 2010 Bellizzi, AM, Crowder CD, Marshal WL, Hampel H, Frankel WL."Treated rectal adenocarcinoma are associated with increased expression of CK20 and Chromogranin" . : 137A
May 2011 Backes F, Mitchell E, Hampel H, et al.."Compliance with recommended genetic counseling for Lynch syndrome: Room for Improvement" . : S58

Presentations

"Screening for Lynch syndrome: from population studies to practice." Osaka, JP|JPN. (June 2008)

"Screening for Lynch syndrome." Presented at Japan Familial Tumor Society, Tokyo, JP|JPN. (June 2008)

"Screening for Lynch syndrome." Presented at Digestive Disease Week, San Diego, CA. (May 2008)

"Lynch syndrome: At the intersection between genetics and pathology." Presented at National Society of Genetic Counselors Annual Education Conference, Los Angeles, CA. (October 2008)

"Hereditary Colorectal Cancer: Risk Algorithms, Counseling and Testing." Presented at American College of Medical Genetics Cancer Genetics Short Course, . (March 2009)

"Endometrial cancer and Lynch syndrome: Approach to Tumor Evaluation and Genetic Testing." Presented at American College of Medical Genetics Annual Education Meeting, . (March 2009)

"Genetic Predisposition to Colorectal Cancer." Presented at American Association for Cancer Research annual education conference, . (April 2009)

"Lynch syndrome: From Population Studies to Practice." Presented at American Society of Clinical Oncology annual education conference, . (May 2009)

"Graduation Lecture to University of Maryland Genetic Counseling training program." College Park, MD, US|USA. (May 2010)

"Education Session for OSU Volunteers on Cancer and Cardiac Genetics." Columbus, OH, US|USA. (September 2010)

"The Feasibility and Justification for Universal Screening of Lynch Syndrome." Presented at Lynch Syndrome Symposium, Indianapolis, IN, US|USA. (August 2010)

"Cancer Genetics talk." Columbus, OH, US|USA. (August 2010)

"Olentangy Area Senior Citizens General Discussion." Columbus, OH, US|USA. (July 2010)

"Lynch syndrome: From Population studies to Practice." Marshfield, WI. (June 2011)

"Cancer Center Grand Rounds." Worcester, MA, US|USA. (March 2011)

"Breast Cancer Genetics." Presented at Stephanie's Champions Breast Cancer Symposium, Columbus, OH, US|USA. (April 2011)

 

Professional Activities

1996 - present Facing Our Risk for Cancer Empowered (FORCE) Medical Advisory Board. Facing Our Risk for Cancer Empowered (FORCE).
2006 - present Bright Pink Expert Panelist. Be Bright Pink.
2007 - present Advisory Committee member. Sarah Lawrence College genetic counseling training program.
2009 - present Advisory Committee member. Long Island University genetic counseling training program.
2010 - present Expert Cancer Genetics Consultant, National Human Genome Research Institute. National Human Genome Research Institute.
2007 - 2008 Technical Expert Panelist. CDC Evaluation of Genomic Appliations in Practice and Prevention.
2008 - 2010 Advisory Board. Myriad Genetic Laboratories.