Heather Hampel

Summary

Affiliation: The Ohio State University
Country: USA

Publications

  1. ncbi request reprint Point: justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer
    Heather Hampel
    Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio 43240, USA
    J Natl Compr Canc Netw 8:597-601. 2010
  2. pmc Genetic testing for hereditary colorectal cancer
    Heather Hampel
    Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH 43240, USA
    Surg Oncol Clin N Am 18:687-703. 2009
  3. pmc The search for unaffected individuals with Lynch syndrome: do the ends justify the means?
    Heather Hampel
    Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, 2001 Polaris Parkway, Columbus, OH 43240, USA
    Cancer Prev Res (Phila) 4:1-5. 2011
  4. doi request reprint Genetic counseling practice analysis
    Heather Hampel
    American Board of Genetic Counseling, Olathe, KS, USA
    J Genet Couns 18:205-16. 2009
  5. pmc The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    Leigha Senter
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
    Gastroenterology 135:419-28. 2008
  6. ncbi request reprint Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    Heather Hampel
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, 420 West 12th Avenue, Columbus, OH 43210, USA
    Cancer Res 66:7810-7. 2006
  7. ncbi request reprint Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    Heather Hampel
    Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, USA
    N Engl J Med 352:1851-60. 2005
  8. ncbi request reprint 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
    Hidewaki Nakagawa
    Division of Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, 420 West 12th Avenue, Columbus, OH 43210, USA
    Cancer Res 64:4721-7. 2004
  9. ncbi request reprint 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
    Martha Yearsley
    Department of Pathology, The Ohio State University Medical Center, Columbus, OH 43210, USA
    Hum Pathol 37:831-8. 2006
  10. ncbi request reprint Long-range PCR facilitates the identification of PMS2-specific mutations
    Mark Clendenning
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
    Hum Mutat 27:490-5. 2006

Collaborators

Detail Information

Publications30

  1. ncbi request reprint Point: justification for Lynch syndrome screening among all patients with newly diagnosed colorectal cancer
    Heather Hampel
    Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio 43240, USA
    J Natl Compr Canc Netw 8:597-601. 2010
    ....
  2. pmc Genetic testing for hereditary colorectal cancer
    Heather Hampel
    Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH 43240, USA
    Surg Oncol Clin N Am 18:687-703. 2009
    ..This identification will ensure that they receive appropriate management, and will enable their relatives to determine their precise risks and to tailor their cancer surveillance...
  3. pmc The search for unaffected individuals with Lynch syndrome: do the ends justify the means?
    Heather Hampel
    Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, 2001 Polaris Parkway, Columbus, OH 43240, USA
    Cancer Prev Res (Phila) 4:1-5. 2011
    ..Newly diagnosed colorectal cancer patients are a much easier target population for screening and this approach leads to more informative genetic test results, at a lower cost in most cases...
  4. doi request reprint Genetic counseling practice analysis
    Heather Hampel
    American Board of Genetic Counseling, Olathe, KS, USA
    J Genet Couns 18:205-16. 2009
    ..In keeping with credentialing standards, ABGC plans to conduct a PA on a regular basis so that the content of the examination reflects current practice...
  5. pmc The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    Leigha Senter
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
    Gastroenterology 135:419-28. 2008
    ..Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers...
  6. ncbi request reprint Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    Heather Hampel
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, 420 West 12th Avenue, Columbus, OH 43210, USA
    Cancer Res 66:7810-7. 2006
    ..Studying all endometrial cancer patients for Lynch syndrome using a combination of MSI and immunohistochemistry for molecular prescreening followed by gene sequencing and deletion analysis is feasible and may be desirable...
  7. ncbi request reprint Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    Heather Hampel
    Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, USA
    N Engl J Med 352:1851-60. 2005
    ..We assessed the frequency of such mutations in patients with colorectal cancer and examined strategies for molecular screening to identify patients with the syndrome...
  8. ncbi request reprint 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
    Hidewaki Nakagawa
    Division of Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, 420 West 12th Avenue, Columbus, OH 43210, USA
    Cancer Res 64:4721-7. 2004
    ..Paralogous genes interfere with mutation detection, resulting in underdiagnosis of PMS2 mutations. Mutation detection in PMS2 requires haploid DNA...
  9. ncbi request reprint 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
    Martha Yearsley
    Department of Pathology, The Ohio State University Medical Center, Columbus, OH 43210, USA
    Hum Pathol 37:831-8. 2006
    ..These features are not useful to distinguish MSI-L from MSS carcinomas, and those with a deleterious germline hereditary nonpolyposis colorectal cancer syndrome mutation from those with methylation of the MLH1 promoter region...
  10. ncbi request reprint Long-range PCR facilitates the identification of PMS2-specific mutations
    Mark Clendenning
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
    Hum Mutat 27:490-5. 2006
    ..705+1G>T, c.736_741del6ins11, c.862_863del, c.1688G>T, and c.2007-1G>A. We conclude that PMS2 mutation detection in selected Lynch syndrome and Lynch syndrome-like patients is both feasible and desirable...
  11. ncbi request reprint Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques
    Hidewaki Nakagawa
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
    Hum Mutat 22:258. 2003
    ..In each case, we were able to pinpoint the breakpoint and design a simple diagnostic PCR. The procedures we used appear to be sensitive, specific, and simple enough for clinical use...
  12. doi request reprint Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer
    Floor J Backes
    The Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, The Ohio State University College of Medicine, Columbus, OH 43210 1228, USA
    Gynecol Oncol 114:486-90. 2009
    ..We report our experience with the prospective evaluation of MMR protein expression in endometrial cancer...
  13. doi request reprint Are prediction models for Lynch syndrome valid for probands with endometrial cancer?
    Floor J Backes
    The Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, The Ohio State University College of Medicine, Columbus, OH 43210 1228, USA
    Fam Cancer 8:483-7. 2009
    ..Further studies are needed to develop models that include questions specific to patients with EMC with a greater age range, as well as placing increased emphasis on prediction of LS in probands with MSH6 mutations...
  14. pmc An American founder mutation in MLH1
    Jerneja Tomsic
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
    Int J Cancer 130:2088-95. 2012
    ..The splice site mutation in America arose or was introduced some 450 years ago (18 generations; 95% confidence interval 14-23); it accounts for 1.0% all LS in the Unites States and can be readily screened for...
  15. pmc Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer
    Laura Valle
    Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210, USA
    Science 321:1361-5. 2008
    ..Conservative estimates suggest that ASE confers a substantially increased risk of CRC (odds ratio, 8.7; 95% confidence interval, 2.6 to 29.1), but these estimates require confirmation and will probably show ethnic differences...
  16. pmc Allele-specific expression of TGFBR1 in colon cancer patients
    Jerneja Tomsic
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
    Carcinogenesis 31:1800-4. 2010
    ..More advanced technology is expected to resolve this issue as well as the low informativity caused by the limited heterozygosity of transcribed SNPs...
  17. doi request reprint Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancer
    Christopher D South
    Division of Gastroenterology and Hepatology, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, USA OH 43221, USA
    Genet Med 11:812-7. 2009
    ..The results of implementing this testing on a clinical basis are critically assessed...
  18. ncbi request reprint Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset
    Heather Hampel
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, The Ohio State University, Columbus, 43210, USA
    Gastroenterology 129:415-21. 2005
    ..The purpose of this study was to re-examine the penetrance in HNPCC using a comprehensive dataset from a geographically defined region...
  19. doi request reprint Origins and prevalence of the American Founder Mutation of MSH2
    Mark Clendenning
    Human Cancer Genetics Program, The Ohio State University, Columbus, Ohio 43210, USA
    Cancer Res 68:2145-53. 2008
    ..The consequences of this finding would be that the AFM is significantly more frequent in the United States than was previously predicted...
  20. ncbi request reprint Improved survival with an intact DNA mismatch repair system in endometrial cancer
    David E Cohn
    Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, The Ohio State University College of Medicine and Comprehensive Cancer Center, Columbus, Ohio 43210, USA
    Obstet Gynecol 108:1208-15. 2006
    ..To correlate survival and surgical-pathologic factors with DNA mismatch repair status in patients with endometrial cancer...
  21. doi request reprint Endometrial cancer patients and compliance with genetic counseling: room for improvement
    Floor J Backes
    Division of Gynecologic Oncology, The Ohio State University College of Medicine, Columbus, OH, USA
    Gynecol Oncol 123:532-6. 2011
    ..However, compliance with referral to GC is poor. Therefore, we set out to analyze the reasons for noncompliance, hypothesizing that it could be due to a perception of a low risk for developing other cancers...
  22. pmc Current and emerging trends in Lynch syndrome identification in women with endometrial cancer
    Kimberly E Resnick
    Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, The Ohio State University College of Medicine, Columbus, OH 43210, USA
    Gynecol Oncol 114:128-34. 2009
    ..Lynch syndrome is a heritable, cancer susceptibility syndrome. This study aims to review current and emerging trends in the identification of Lynch syndrome in the endometrial cancer patient population...
  23. doi request reprint BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome
    Ming Jin
    Department of Pathology, Ohio State University Wexner Medical Center, Columbus, OH 43210, USA
    Am J Clin Pathol 140:177-83. 2013
    ..To evaluate our experience of adding reflex BRAF mutation analysis following mismatch repair (MMR) protein staining in the test algorithm for Lynch syndrome (LS), the most common inherited predisposition to colorectal cancer (CRC)...
  24. doi request reprint Phosphatase and tensin homolog immunohistochemical staining and clinical criteria for Cowden syndrome in patients with trichilemmoma or associated lesions
    Ming Jin
    Department of Pathology, Ohio State University, Wexner Medical Center, Columbus, OH 43210, USA
    Am J Dermatopathol 35:637-40. 2013
    ..Because none of our patients met clinical diagnostic criteria for CS, the direct correlation of PTEN in CS and sporadic trichilemmoma remains unclear...
  25. doi request reprint Mismatch repair protein deficiency is common in sebaceous neoplasms and suggests the importance of screening for Lynch syndrome
    Elizabeth F Plocharczyk
    Department of Pathology, The Wexner Medical Center at the Ohio State University, Columbus, OH, USA
    Am J Dermatopathol 35:191-5. 2013
    ..5 vs. 9.7, P = 0.027). MMRP deficiency is common in sebaceous neoplasms, suggesting the importance of screening for Lynch syndrome in these patients...
  26. doi request reprint Lynch syndrome screening strategies among newly diagnosed endometrial cancer patients
    Kimberly Resnick
    Division of Gynecologic Oncology, Department of Internal Medicine, Ohio State University College of Medicine, Columbus, OH 43210, USA
    Obstet Gynecol 114:530-6. 2009
    ..To estimate the cost-effectiveness of screening strategies for Lynch syndrome among newly diagnosed endometrial cancer patients...
  27. pmc Clinical relevance of microsatellite instability in colorectal cancer
    Albert de la Chapelle
    Ohio State University, Comprehensive Cancer Center, Columbus, OH 43210, USA
    J Clin Oncol 28:3380-7. 2010
    ..More data are needed to determine how best to treat patients with stage II and stage III MIN CRCs...
  28. ncbi request reprint Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements
    Hidewaki Nakagawa
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
    Cancer Res 62:4579-82. 2002
    ..These results allowed pathogenicity to be unambiguously assigned to the mutations and increased the sensitivity of genomic testing...
  29. pmc 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
    Xiao Ping Zhou
    Clinical Cancer Genetics Program, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210, USA
    Am J Hum Genet 73:404-11. 2003
    ..These data suggest that patients with BRRS and CS without PCR-detected intragenic PTEN mutations be offered clinical deletion analysis and promoter-mutation analysis, respectively...
  30. pmc A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing
    Xiao Ping Zhou
    Clinical Cancer Genetics and Human Cancer Genetics Programs, The Ohio State University, 420 W 12th Avenue, Columbus, OH 43210, USA
    J Mol Diagn 4:114-7. 2002
    ..Due to its location immediately upstream of the splicing site of exon 8, this polymorphism could be mistaken for a deleterious mutation in the PTEN...