Associate Professor, Clinical
Contact Information:
Comprehensive Cancer Center. 2012 Kenny Rd, Columbus, Ohio 43221
Phone: 614-293-6694
Fax: 614-293-2314
Rachel.Pearlman@osumc.edu
Licenses
- Licensed genetic counselor, State Medical Board of Ohio, 2013 – present
- Certified genetic counselor, American Board of Genetic Counseling, 2013 – present
Specialty Interests
- Hereditary colorectal cancer
- Lynch syndrome
- Polyposis
Clinical Interests
Ms. Pearlman is a licensed and board-certified genetic counselor who specializes in gastrointestinal cancer genetics. She provides cancer risk assessment and counseling to individuals and families with a history of cancer. Cancer genetic consultation includes discussion of medical history, targeted family history, risk assessment, screening recommendations, and genetic testing as indicated. To schedule an appointment, call 614-293-6694 or toll free at 1-888-329-1654.
Research Interests
Ms. Pearlman’s research interests include hereditary colorectal cancer, Lynch syndrome, early-onset colon cancer, universal germline testing, and somatic tumor testing. She is a co-investigator for the Ohio Prevention and Treatment for Endometrial Cancer (OPTEC) Initiative, a statewide study performing germline testing to identify hereditary cancer syndromes in women with endometrial cancer, as well as tumor testing to potentially impact treatment (2017-2023). She is the principle investigator for the Ohio Colorectal Cancer Prevention Initiative (OCCPI), a large statewide study that performed universal tumor screening for Lynch syndrome and next-generation sequencing for hereditary colon cancer (2013-2017). The OCCPI biorepository is ongoing and accepting proposals for collaborations.
Education
- MS: Genetic Counseling, University of Pittsburgh, 2012
- BS: Public health, Indiana University, Bloomington, IN, 2010
- Minors: Psychology, Human Development and Family Studies
Hampel H, Pearlman R and Cragun D. Universal Screening of Colorectal Tumors for Lynch Syndrome. In Hereditary Colorectal Cancer. Genetic Basis and Clinical Implications. Editors: Laura Valle, Stephen Gruber, Gabriel Capellá. Published by Springer Nature. 2018.
Ad hoc Reviewer:
Journal of Medical Genetics: 2020-present
Journal of Clinical Oncology: 2020-present
JAMA Oncology: 2017-present
JADPRO: 2017-present
American Journal of Preventive Medicine: 2017-present
Journal of Genetic Counseling: 2016-present
Familial Cancer: 2016-present
GENE: 2015-present
Clinical Genetics: 2015-present
PLOS ONE: 2015-present
Tomlinson J, Vazzano J, Stanich PP, Pearlman R, Kalady MF, Chen W, Frankel WL, Hampel H. Universal Tumor Screening for Lynch Syndrome on Colonoscopic Tumor Biopsy Impacts Surgical Treatment Decisions. Fam Cancer. 2022 Jun 23. Online ahead of print. PMID: 35732921.
Ramsey ML, Tomlinson J, Pearlman R, Abushahin L, Aeilts A, Chen H, Chen Y, Compton A, Elkhatib R, Geiger L, Hays J, Jeter J, Jin J, Malalur P, Roychowdhury S, Ruple J, Prebish J, Stanich PP, Hampel H. Mainstreaming Germline Genetic Testing for Patients with Pancreatic Cancer Increases Access. Fam Cancer. 2022 Jun 17;1-7. Online ahead of print. PMID: 35713757.
Hampel H, Kalady MF, Pearlman R, Stanich PP. Hereditary Colorectal Cancer. Review Article. Hematol Oncol Clin N Am. 2022 June; 36(3): 429–447.
Esplin E, Michalski S, Yang S, Hampel H, Jeter J, Sweet K, Pilarski R, Pearlman R, Shane K, Brock P, Westman J, Chittenden A, Stopfer J, Schneider K, Sacca R, Stickevers S, Kipnis L, Koeller D, Gaonkar S, Sotelo J, Vaccari E, Cochrane S, Champine M, Espinel W, Lincoln S, Nussbaum R. Clinical impact of pathogenic variants in DNA-damage repair genes beyond BRCA1 and BRCA2 in breast and ovarian cancer patients. Cancers (Basel). 2022 May 13;14(10):2426. PMID: 35626031.
Levine M, Pearlman R, Hampel H, Cosgrove C, Cohn D, Chassen A, Suarez A, Barrington D, McElroy J, Waggoner S, Nakayama J, Billingsley C, Resnick K, Andrews S, Singh S; Jenison E, Clements A, Neff R, Goodfellow P, Ohio Prevention and Treatment of Endometrial Cancer Initiative Study Group. Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study. JCO Precis Oncol. 2021 Nov;5:1588-1602. PMID: 34994648.
International Mismatch Repair Consortium. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. Lancet Oncol 2021 Jul;22(7):1014-1022. PMID: 34111421.
Pearlman R, Frankel WL, Swanson, B, Jones D, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Prior T, Haut M, Kalady M, Heald B, Paquette I, Draper DJ, Brell JM, Mahesh S, Weeman K, Bastola S, Zangmeister J, Gowda A, Kencana F, Malcolm A, Liu Y, Cole S, Bane C, Li C, Rehmus E, Pritchard CC, Shirts BH, Jacobson A, Cummings SA, de la Chapelle A, Hampel H. A Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative. JCO Precis Oncol. 2021 May 5;5:PO.20.00525. PMID: 34250417
Durno C, Ercan A, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad V, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, De Mola RL, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrin B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U; On Behalf of the International Replication Repair Deficiency Consortium. Survival Benefit for Individuals with Constitutional Mismatch Repair Deficiency Undergoing Surveillance. J Clin Oncol. 2021 Sep 1;39(25):2779-2790. PMID:33945292.
Stanich PP, Pelstring K, Hampel H, Pearlman R. A High Percentage of Early-age Onset Colorectal Cancer is Potentially Preventable. Gastroenterology. 2021 Apr;160(5):1850-1852. PMID:33310086.
Guo X, Lin W, Wen W, Huyghe J, Bien S, Cai Q, Harrison T, Chen Z, Qu C, Bao J, Long J, Yuan Y, Wang F, Bai M, Abecasis GR, Albanes D, Berndt SI, Bézieau S, Bishop DT, Brenner H, Buch S, Burnett-Hartman A, Campbell PT, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Cho SH, Conti DV, de la Chapelle A, Feskens EJM, Gallinger SJ, Giles GG, Goodman PJ, Gsur A, Guinter M, Gunter MJ, Hampe J, Hampel H, Hayes RB, Hoffmeister M, Kampman E, Kang HM, Keku TO, Kim HR, Le Marchand L, Lee SC, Li CI, Li L, Lindblom A, Lindor N, Milne RL, Moreno V, Murphy N, Newcomb PA, Nickerson DA, Offit K, Pearlman R, Pharoah DPD, Platz EA, Potter JD, Rennert G, Sakoda LC, Schafmayer C, Schmit SL, Schoen RE, Schumacher FR, Slattery ML, Su Y, Tangen CM, Ulrich CM, Franzel J B van Duijnhoven FJB, Van Guelpen B, Visvanathan K, Vodicka P, Vodickova L, Vymetalkova V, Wang X, White E, Wolk A, Woods MO, Casey G, Hsu L, Jenkins MA, Gruber SB, Peters U, Zheng W. Identifying novel susceptibility genes for colorectal cancer risk from a transcriptome-wide association study of 125,478 subjects. Gastroenterology. 2021 Mar;160(4):1164-1178.e6. PMID:33058866
Huyghe JR, Harrison TA, Bien SA, Hampel H, Figueiredo JC, Schmit SL, Conti DV, Chen S, Qu C, Lin Y, Barfield R, Baron JA, Cross AJ, Diergaarde B, Duggan D, Harlid S, Imaz L, Kang HM, Levine DM, Perduca V, Perez-Cornago A, Sakoda LC, Schumacher FR, Slattery ML, Toland AE, van Duijnhoven FJB, Van Guelpen B, Arndt V, Agudo A, Albanes D, Alonso MH, Anderson K, Arnau-Collell C, Banbury B, Bassik MC, Berndt SI, Bézieau S, Bishop DT, Boehm J, Boeing H, Boutron-Ruault MC, Brenner H, Brezina S, Buch S, Buchanan DD, Burnett-Hartman A, Caan BJ, Campbell PT, Carr P, Castells A, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Curtis KR, de la Chapelle A, Easton DF, English DR, Feskens EJM, Gala M, Gallinger SJ, Gauderman WJ, Giles GG, Goodman PJ, Grady WM, Grove JS, Gsur A, Gunter MJ, Haile RW, Hampe J, Hoffmeister M, Hopper JL, Hsu W, Huang W, Hudson TJ, Jenab M, Jenkins MA, Joshi AD, Keku TO, Kooperberg C, Kuhn T, Küry S, Marchand LL, Lejbkowicz F, Li CI, Li L, Lieb W, Lindblom A, Lindor NM, Männistö S, Markowitz SD, Milne RL, Moreno L, Murphy N, Nassir R, Offit K, Ogino S, Panico S, Parfrey PS, Pearlman R, Pharoah PDP, Phipps AI, Platz EA, Potter JD, Prentice RL, Qi L, Raskin L, Rennert G, Rennert HS, Riboli E, Schafmayer C, Schoen RE, Seminara D, Song M, Su YR, Tangen CM, Thibodeau SN, Thomas DC, Trichopoulou A, Ulrich CM, Visvanathan K, Vodicka P, Vodickova L, Vymetalkova V, Weigl K, Weinstein SJ, White E, Wolk A, Woods MO, Wu AH, Abecasis GR, Nickerson DA, Scacheri PC, Kundaje A, Casey G, Gruber SB, Hsu L, Moreno V, Hayes RB, Newcomb PA, Peters U. Genetic architectures of proximal and distal colorectal cancer are partly distinct. Gut. 2021 Jul;70(7):1325-1334. PMID: 33632709
Hampel H, Pearlman R, Chapelle A, Pritchard CC, Zhao W, Jones D, Yilmaz A, Chen W, Frankel WL, Suarez AA, Cosgrove C, Backes F, Copeland L, Fowler F, O’Malley D, Salani R, McElroy JP, Stanich PP, Goodfellow P, Cohn DE. Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients. Gynecol Oncol. 2021 Jan;160(1):161-168. PMID:33393477.
Chen, W, Hampel H, Pearlman R, Jones D, Zhao W, Alsomali MI, Knight D, Frankel WL. ¬¬-Unexpected Expression of Mismatch Repair Protein Is More Commonly Seen with Pathogenic Missense than Other Mutations in Lynch Syndrome. Hum Pathol. 2020 Sep;103:34-41. PMID: 32652087
Archambault AN, Su R, Jeon J, Thomas M, Lin Y, Conti DV, Win AK, Sadoka LC, Lansdorp-Vogelaar I, Peterse E, Zauber AG, Duggan D, Holowatyj AN, Huyghe JR, Brenner H, Cotterchio M, Bézieau S, Schmit SL, Edlund CK, Southey MC, MacInnis RJ, Campbell PT, Chang-Claude J, Slattery ML, Chan AT, Joshi AD, Cao Y, Song M, Woods MO, White E, Weinstein SJ, Ulrich CM, Hoffmeister M, Bien SA, Harrison TA, Hampe J, Li CI, Schafmayer C, Offit K, Pharoah PD, Moreno V, Lindblom A, Wolk A, Wu AH, Li L, Van Guelpen B, Gunter MJ, Gsur A, Keku TO, Hampel H, Bishop DT, Castellví-Bel S, Vodicka P, Kampman E, Giles G, Albanes D, Baron JA, Berndt SI, Brezina S, Buch S, Buchanan DD, Pearlman R, Burnett-Hartman A, Chanock SJ, de la Chapelle A, Easton DF, Elliott F, English DR, Feskens EJM, FitzGerald LM, Goodman PJ, Hopper JL, Hudson TJ, Hunter DJ, Jacobs EJ, Joshu CE, Küry S, Markowitz SD, Milne RL, Platz EA, Rennert G, Rennert HS, Schumacher FR, Sandler RS, Seminara D, Tangen CM, Thibodeau SN, Toland AE, van Duijnhoven FJB, Visvanathan K, Vodickova L, Potter JD, Männistö S, Weigl K, Figueiredo J, Martín V, Larsson SC, Parfrey PS, Huang W, Lenz H, Castelao JE, Gago M, Muñoz-Garzón V, Mancao C, Haiman CA, Wilkens LR, Siegel E, Barry E, Younghusband B, Casey G, Lindor NM, Marchand LL, Gallinger SJ, Jenkins MA, Newcomb PA, Gruber SB, Schoen RE, Corley DA, Hsu L, Peters U, Hayes RB. Cumulative Burden of Colorectal Cancer-Associated Genetics Variants Is More Strongly Associated with Early-Onset vs Late-Onset Cancer. Gastroenterology. 2020 Apr;158(5):1274-1286.e12. PMID: 31866242
Chen W, Pearlman R, Hampel H, Pritchard CC, Markow M, Arnold C, Knight D, Frankel WL. MSH6 Immunohistochemical Heterogeneity in Colorectal Cancer: Comparative Sequencing from Different Tumor Areas. Hum Pathol. 2020 Feb;96:104-111. PMID: 31783044
Paskett ED, Bernardo BM, Young GS, Katz M, Reiter PL, Tatum C, Oliveri J, DeGraffinreid C, Gray DM, Pearlman R, Hampel H. Comparative effectiveness of two interventions to increase colorectal cancer screening for those at increased risk based on family history: Results of a randomized trial. Cancer Epidemiol Biomarkers Prev. 2020 Jan;29(1):3-9. PMID: 31666284
Stanich PP, Pearlman R. Hereditary or not? Understanding serrated polyposis syndrome. Review Article. Curr Treat Options Gastroenterol. 2019 Dec;17(4):692-701. PMID: 31673925
Pearlman R, Haraldsdottir S, de la Chapelle A, Liyanarachchi S, Frankel WL, Rafnar T, Pritchard CC, Hampel H. Clinical characteristics of colorectal cancer patients with double somatic mismatch repair mutations compared to Lynch syndrome. J Med Genet. 2019 Jul;56(7):462-470. PMID:30877237
Pearlman R, Hemminger J, Hampel H, Frankel WL. Letter in Reply for “Histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by Lynch syndrome- reply”. Hum Pathol. 2019 Jul;89:116-117. PMID:31075301
Hitchins MP, Vogelaar IP, Brennan K, Alvarez R, Zhou N, Martin B, Yuan X, Kim S, Haraldsdottir S, Kalady MF, De Vecchio J, Church J,de la Chapelle A, Hampel H, Pearlman R, Christensen M, Snyder C, Lanspa S, Haile RW, Lynch HT. Methylated SEPT9 plasma test may be applicable for the detection of colorectal cancer in patients with Lynch Syndrome. BMJ Open Gastroenterol. 2019 May 28;6(1):e000299. PMID: 31275589
Stanich PP, Pearlman R, Hinton A, Gutierrez S, LaDuca H, Hampel H, Jasperson K. Prevelance of germline mutations in polyposis and colorectal cancer-associated genes in patients with multiple colorectal polyps. Clin Gastroenterol Hepatol. 2019 Sep;17(10):2008-2015.e3. PMID: 30557735
Ranola JM, Pearlman R, Hampel H, Shirts BH. Modified Capture-Recapture Estimates of the Number of Families with Lynch Syndrome in Central Ohio. Fam Cancer. 2019 Jan;18(1):67-73. PMID:30019097
Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, Schmit SL, Conti DV, Qu C, Jeon J, Edlund CK, Greenside P, Wainberg M, Schumacher FR, Smith JD, Levine DM, Nelson SC, Sinnott-Armstrong NA, Albanes DA, Alonso MH, Anderson K, Arnau-Collell C, Arndt V, Bamia C, Banbury B, Baron JA, Berndt SI, Bézieau S, Bishop DT, Boehm J, Boeing H, Brenner H, Brezina S, Buch S, Buchanan D, Burnett-Hartman A, Butterbach K, Caan BJ, Campbell PT, Carlson CS, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Chirlaque MD, Cho SH, Connolly C, Cross AJ, Cuk K, Curtis KR, de la Chapelle A, Doheny KF, Duggan D, Easton DF, Elias SG, Elliott F, English DR, Feskens EJM, Figueiredo JC, Fischer R, FitzGerald LM, Forman D, Gala M, Gallinger SJ, Gauderman W, Giles GG, Gillanders E, Gong J, Goodman PJ, Grady WM, Grove JS, Gsur A, Gunter MJ, Haile RW, Hampe J, Hampel H, Harlid S, Hayes RB, Hofer P, Hoffmeister M, Hopper JL, Hsu W, Huang W, Hudson TJ, Hunter DJ, Ibañez-Sanz G, Idos GE, Ingersoll R, Jackson R, Jacobs EJ, Jenkins MA, Joshi AD, Joshu CE, Keku TO, Key TJ, Kim HR, Kobayashi E, Kolonel LN, Kooperberg C, Kuhn T, Küry S, Kweon S, Larsson SC, Laurie CA, Marchand LL, Leal SM, Lee SC, Lejbkowicz F, Lemire M, Li CI, Li L, Lieb W, Lin Y, Lindblom A, Lindor NM, Ling H, Louie TL, Männistö S, Markowitz SD, Martín V, Masala G, McNeil CE, Melas M, Milne RL, Moreno L, Murphy N, Myte R, Naccarati A, Newcomb PA, Offit K, Ogino S, Onland-Moret NC, Pardini B, Parfrey PS, Pearlman R, Perduca V, Pharoah PDP, Pinchev M, Platz EA, Prentice RL, Pugh E, Raskin L, Rennert G, Rennert HS, Riboli E, Rodríguez-Barranco M, Romm J, Sakoda LC, Schafmayer C, Schoen RE, Seminara D, Shah M, Shelford T, Shin M, Shulman K, Sieri S, Slattery ML, Southey MC, Stadler ZK, Stegmaier C, Su Y, Tangen CM, Thibodeau SN, Thomas DC, Thomas SS, Toland AE, Trichopoulou A, Ulrich CM, Van Den Berg DJ, van Duijnhoven FJB, Van Guelpen B, van Kranen H, Vijai J, Visvanathan K, Vodicka P, Vodickova L, Vymetalkova V, Weigl K, Weinstein SJ, White E, Win AK, Wolf CR, Wolk A, Woods MO, Wu AH, Zaidi SH, Zanke BW, Zhang Q, Zheng W, Scacheri PC, Potter JD, Bassik MC, Kundaje A, Casey G, Moreno V, Abecasis GR, Nickerson DA, Gruber SB, Hsu L, Peters U. Discovery of common and rare genetic risk variants for colorectal cancer. Nat Genet. 2019 Jan;51(1):76-87. PMID:30510241
Pearlman R, Markow M, Chen W, Arnold C, Knight D, Hampel H, Frankel WL. Two-stain rather than four-stain immunohistochemical screening for Lynch syndrome in colorectal cancer may fail to detect mismatch repair deficiency. Mod Pathol. 2018 Dec;31(12):1891-1900. PMID:29967423
Ten Broeke SW, van der Klift HM, Tops CMJ, Aretz S, Bernstein I, Buchanan DD, de la Chapelle A, Capellá Munar G, Clendenning M, Engel C, Gallinger S, Gomez Garcia E, Figueiredo JC, Haile RW, Hampel H, Hopper JL, Hoogerbrugge N, von Knebel Doeberitz M, Le Marchand L, Letteboer TGW, Jenkins MA, Lindblom A, Lindor NM, Mensenkamp AR, Moller P, Newcomb PA, van Os TA, Pearlman R , Pineda M, Rahner N, Redeker EJW, Olderode-Berends MJW, Rosty C, Schackert HK, Scott RJ, Senter L, Spruijt L, Steinke-Lange V, Suerink M, Thibodeau SN, Vos YJ, Wagner A, Winship I, Hes FJ, Vasen HF, Wijnen JT, Nielsen M, Win AK. Cancer risks for PMS2-associated Lynch syndrome. J Clin Oncol. 2018 Oct 10;36(29):2961-2968. PMID:30161022
Hemminger JA, Pearlman R, Haraldsottir S, Knight D, Hampel H, Frankel WL. Histology of Colorectal Adenocarcinoma with Double Somatic Mismatch Repair Mutations Is Indistinguishable from Those Caused by Lynch Syndrome. Hum Pathol. 2018 Aug;78:125-130. PMID:29723603
Shirts BH, Konnick E, Walsh T, King MC, Ranola JM, Jacobson A, Pearlman R, Hampel H, Pritchard CC. Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes. Am J Hum Genet. 2018 Jul 5;103(1):19-29. PMID:29887214
Hampel H, Pearlman R, Beightol M, Zhao W, Jones D, Frankel WL, Goodfellow PJ, Yilmaz A, Miller K, Bacher J, Jacobson A, Paskett E, Shields P, Goldberg RM, de la Chapelle A, Shirts BH, Pritchard CC. Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients with Colorectal Cancer. JAMA Oncol. 2018 Jun 1;4(6):806-813. PMID:29596542
Pearlman R, de la Chapelle A, Hampel H. Letter in Reply for “Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer- reply”. JAMA Oncol. 2017 Nov 1;3(11):1587. PMID: 28687820
Cosgrove C, Cohn D, Hampel H, Frankel WL, McElroy J, Suarez A, Zhao W, Chen W, Salani R, Copeland L, O’Malley D, Fowler J, Yilmaz A, Chassen A, Pearlman R, Goodfellow P, Backes F. Epigenetic silencing of MLH1 in endometrial cancer is associated with larger tumor volume, higher rates of lymph node positivity and increased rate of recurrence. Gynecol Oncol. 2017 Sep;146(3):588-595. PMID: 28709704
Pearlman R, Frankel WL, Swanson, B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Kalady M, Heald B, Greenwood C, Paquette I, Prues M, Draper DJ, Lindeman C, Kuebler JP, Reynolds K, Brell JM, Shaper AA, Mahesh S, Buie N, Weeman K, Shine K, Haut M, Edwards J, Pritchard CC, Shirts BH, Jacobson A, Allen B, de la Chapelle A, Hampel H, Ohio Colorectal Cancer Prevention Initiative Study Group. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol. 2017 Apr 1;3(4):464-471. PMID: 27978560
Cohen SA, Turner EH, Beightol MB, Jacobson A, Gooley TA, Salipante SJ, Haraldsdottir S, Smith C, Scroggins S, Tait JF, Grady WM, Lin EH, Cohn DE, Goodfellow PJ, Arnold MW, de la Chapelle A, Pearlman R, Hampel H, Pritchard C. Frequent PIK3CA Mutations in Colorectal and Endometrial Cancer With 2 or More Somatic Mutations in Mismatch Repair Genes. Gastroenterology. 2016 Sep;151(3):440-447.e1. PMID: 27302833
Haraldsdottir S, Roth R, Pearlman R, Hampel H, Arnold CA, Frankel WL. Mismatch repair deficiency concordance between primary colorectal cancer and corresponding metastasis. Fam Cancer. 2016 Apr;15(2):253-60. PMID:26666765
Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med. 2015 Jan;17(1):70-87. PMID:25394175
Haraldsdottir S, Hampel H, Tomsic J, Frankel WL, Pearlman R, de la Chapelle A, Pritchard CC. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology 2014 Dec;147(6):1308-1316. PMID:25194673
Invited speaker on Who What When Where & How: Incorporating Genetic Testing into your Practice at the American Society of Colon and Rectal Surgeons Annual Scientific Meeting. Tampa, FL (hybrid meeting). May 2022.
Invited speaker on Hereditary Colorectal Cancer Update. Ambry Genetics’ Case Café Series. Webinar. January 2022.
Invited panelist on Advantages and Pitfalls for Somatic Testing/Implications for Hereditary GI Cancers at the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Annual Conference. Nashville, TN (Virtual due to COVID-19). November 2021.
Invited speaker on When the Algorithm Doesn’t Work: Tumor Testing for Lynch Syndrome at the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Annual Conference. Nashville, TN (Virtual due to COVID-19). November 2021.
Invited moderator for Screening, Surgery and Germline Testing for CDH1 at the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Annual Conference. Nashville, TN (Virtual due to COVID-19). November 2020.
Somatic Tumor Testing and Lynch Syndrome. Informed DNA Conference. Webinar. January 2018.
Clinical Characteristics of Colon Cancer Patients with Double Somatic Mismatch Repair Mutations: Ohio Colorectal Cancer Prevention Initiative. Myriad Genetic Laboratories Review Conference. Webinar. November 2017.
Invited speaker on Moderate Risk Colon Cancer Genes at the Collaborative Group of the Americas on Inherited Colorectal Cancer Annual Conference. Orlando, FL. October 2017.
Somatic Tumor Testing and Lynch Syndrome. Lynch Syndrome Screening Network’s Annual Meeting at the National Society of Genetic Counselor’s Annual Education Conference. Columbus, OH. September 2017.
Invited speaker on Lynch Syndrome Screening at the 21st Century Oncology’s Fall Foliage Cancer Conference Update. Asheville, NC. October 2016.
Invited speaker on Challenging Genetic Counseling Issues in Cancer Genetics. Hereditary Colon Cancer Patient and Family Symposium at the International Society for Gastrointestinal Hereditary Tumours 7th Biennial Meeting. Florence, Italy. July 2017.