Original Article
The Use and Interpretation of Commercial APC Gene Testing for Familial Adenomatous Polyposis
N Engl J Med 1997; 336:823-827March 20, 1997
- Abstract
Background
The use of commercially available tests for genes linked to familial cancer has aroused concern about the impact of these tests on patients. Familial adenomatous polyposis is an autosomal dominant disease caused by a germ-line mutation of the adenomatous polyposis coli (APC ) gene that causes colorectal cancer if prophylactic colectomy is not performed. We evaluated the clinical use of commercial APC gene testing.
Methods
We assessed indications for APC gene testing, whether informed consent was obtained and genetic counseling was offered before testing, and the interpretation of the results through telephone interviews with physicians and genetic counselors in a nationwide sample of 177 patients from 125 families who underwent testing during 1995.
Results
Of the 177 patients tested, 83.0 percent had clinical features of familial adenomatous polyposis or were at risk for the disease — both valid indications for being tested. The appropriate strategy for presymptomatic testing was used in 79.4 percent (50 of 63 patients). Only 18.6 percent (33 of 177) received genetic counseling before the test, and only 16.9 percent (28 of 166) provided written informed consent. In 31.6 percent of the cases the physicians misinterpreted the test results. Among the patients with unconventional indications for testing, the rate of positive results was only 2.3 percent (1 of 44).
Conclusions
Patients who underwent genetic tests for familial adenomatous polyposis often received inadequate counseling and would have been given incorrectly interpreted results. Physicians should be prepared to offer genetic counseling if they order genetic tests.
Media in This Article
Table 1
Clinical Characteristics of 177 Patients from 125 Families and Indications for APC Gene Testing.Table 2
Use of APC Gene Testing According to the Specialty of Health Care Provider.Article Activity
- Article
Over the past decade, numerous germ-line mutations have been discovered that increase the risk of inherited cancers. Clinical applications of these findings include genetic testing for the diagnosis of inherited syndromes in patients with cancer and testing of persons at risk for these diseases (so-called presymptomatic testing). The promises and pitfalls of gene testing have received considerable attention,1-6 leading several professional and consumer organizations to advocate care in the use of gene tests for evaluating the risk of cancer.7-11
Gene testing for familial adenomatous polyposis is a clinically useful tool in the approach to families with this syndrome. Familial adenomatous polyposis is an autosomal dominant disease caused by a germ-line mutation of the adenomatous polyposis coli (APC ) gene located on the long arm of chromosome 5 in band q21.12-15 The disease is characterized by the development of hundreds of colorectal adenomas in young adults,16,17 but in rare cases attenuated forms of the syndrome with small numbers of polyps occur.18 If prophylactic colectomy is not performed, colorectal cancer will develop by the sixth decade of life in nearly all affected people.16-19
Genetic tests for familial adenomatous polyposis became feasible with the development of the in vitro synthesized-protein assay,20 which was introduced commercially in 1994. This test can identify an APC gene mutation in affected members in about 80 percent of families with familial adenomatous polyposis.20 When the mutation in a kindred is known, direct gene testing can differentiate with essentially 100 percent accuracy affected family members from those who are unaffected by familial adenomatous polyposis. When used appropriately, APC gene testing can confirm the diagnosis of familial adenomatous polyposis at the molecular level, justify the surveillance with colorectal endoscopy of those at risk, and aid in surgical management and family planning.19,21-23 But when used inappropriately, APC gene testing has the potential to misinform affected patients with false negative results.23
The purpose of this study was to evaluate the clinical use of APC gene testing that was performed by a commercial laboratory. Our findings identify areas for improvement in the delivery of cancer genetic services.
Methods
Study Population
All persons undergoing APC gene testing by the commercial laboratory LabCorp from January 1, 1995, to December 31, 1995, were identified as possible study patients. During this period, 182 persons from 129 families were tested. Five persons (2.7 percent) from four families (3.1 percent) were excluded from analysis because insufficient data were available, leaving a final sample of 177 patients from 125 families. None of the patients were from Johns Hopkins Hospital.
When a request for APC gene testing was received at the commercial laboratory, the physician or genetic counselor requesting the test was interviewed by telephone to obtain data on the patient. The interviewer made no attempt to influence the process of testing. When the test results became available, a genetic counselor, gastroenterologist, or both discussed them by telephone with each physician to complete the collection of data and provide an explanation of the results and consultation. The physician was also sent a standardized written report with a brief interpretation of the results.
APC Gene Testing
The APC gene was analyzed in peripheral-blood leukocytes by the in vitro synthesized-protein assay.20 This assay detected mutations in about 80 percent of pedigrees with familial adenomatous polyposis in initial studies. The cost of commercial testing is $750 if the APC gene mutation in the pedigree is unknown and $500 if the mutation is known. Results are reported as positive if a specific gene segment is identified with the truncating mutation, as negative when no mutation is found in a member of a family in which a mutation has been detected previously, and as “no mutation found” if the result cannot rule out the disease when a mutation has not yet been identified in the family.
Data Collection
Telephone interviews with the physicians who ordered the test or examination of medical records of the patients (or both) were conducted at the time the test was ordered (before the results were known). The data collected included information on the patients, the physicians, and the process of gene testing.
Two indications for APC gene testing were considered valid: testing to confirm the diagnosis of familial adenomatous polyposis in patients with typical colorectal adenomatous polyposis or multiple adenomas, as occur in attenuated adenomatous polyposis,18 and presymptomatic testing of first-degree relatives of affected patients. The approach to presymptomatic testing was deemed appropriate (coded as “yes” on the data-collection form) if an affected family member was tested before family members at risk for the disease. We ascertained whether the patient received formal genetic counseling before gene testing was performed (with the answer coded as “yes” or “no” on the data-collection form) and determined whether written informed consent for gene testing had been obtained by the person ordering the test (with the answer coded as “yes” or “no”). The patients' physicians were questioned by telephone by the genetic counselor, gastroenterologist, or both to determine whether the results of the test would be correctly interpreted and relayed to the patients (coded as “yes” or “no”). The physicians' understanding of the result was assessed on the basis of the physicians' assessment of the status of the patients — affected or not affected by familial adenomatous polyposis (coded as “correct” or “incorrect”). A correct understanding of the result required knowing that the absence of a detected mutation (a result reported as “no mutation found”) could represent a false negative result unless an APC gene mutation had been identified previously in an affected member of the family.
Statistical Analysis
Descriptive statistics and frequency-distribution tables were used to analyze the data. The chi-square test was used to evaluate the significance of differences in the use and interpretation of APC gene testing among physicians of different specialties.
Results
Study Population and Indications for APC Gene Testing
The clinical characteristics of the 177 patients and the reasons for APC gene testing are shown in Table 1Table 1
Clinical Characteristics of 177 Patients from 125 Families and Indications for APC Gene Testing.. The most frequent indication was presymptomatic testing of at-risk members of pedigrees with familial adenomatous polyposis (35.6 percent), followed by confirmation of the diagnosis of familial adenomatous polyposis (30.5 percent). In 16.9 percent of the cases, the test was used to evaluate possible familial adenomatous polyposis in patients with multiple colorectal adenomas. Thus, in 83.0 percent of the cases the indications for the tests were appropriate according to current knowledge. In 9.6 percent of the cases tests were ordered because of a personal or family history of colorectal cancer.Test Ordering According to Specialty
The requests for testing were made by physicians and genetic counselors in 32 states. Table 2Table 2
Use of APC Gene Testing According to the Specialty of Health Care Provider. shows that gastroenterologists ordered the greatest proportion of tests (46.9 percent); medical geneticists and genetic counselors requested 18.1 percent of tests.Features of the Gene-Testing Process
Among the 177 patients, 83.0 percent had a valid indication for gene testing (Table 3Table 3
Features of the Gene-Testing Process.). When presymptomatic testing was performed in patients at risk for familial adenomatous polyposis, the correct strategy of testing an available affected family member first was used in most cases (79.4 percent of such patients and 72.9 percent of pedigrees with family members at risk). Only 18.6 percent of those tested for APC gene mutations received formal genetic counseling beforehand; only 17.6 percent of physicians (19 of 108) arranged this service for their patients. Written informed consent was obtained from only 16.9 percent of those tested for whom this information was available; only 12.0 percent of the physicians (13 of 108) asked their patients to provide written informed consent.In almost one third (31.6 percent) of the cases the physicians' interpretation of the test results was incorrect and would have led to the misinforming of the patients. The physicians did not know that a test in which no mutation was detected could represent a false negative result in a pedigree in which the APC gene mutation had not been previously identified in an affected family member. Analysis of the use and interpretation of the APC gene test according to the medical specialty of the physicians (gastroenterology, surgery, medical genetics, and other specialties) showed no statistically significant differences between groups.
Test Results According to Indication
Among 54 patients with clinically apparent familial adenomatous polyposis, an APC gene mutation was identified in 68.5 percent (Table 4Table 4
Indication for APC Gene Testing and Test Results in 177 Patients.). Of 63 at-risk patients who underwent presymptomatic testing, 56 (88.9 percent) were from kindreds with known mutations. Of the patients at risk 49.2 percent had a negative result that represented a true negative for familial adenomatous polyposis because the mutation was known in the kindred. In 11.1 percent, the result was reported as no mutation found, since no mutation had yet been identified in their pedigree. An APC gene mutation was identified in 25 percent (4 of 16) of the patients with at least 20 colorectal adenomas and no family history of familial adenomatous polyposis.Of the 44 patients who were tested for indications other than familial adenomatous polyposis, high-risk status, or the presence of at least 20 colorectal adenomas, only 1 (2.3 percent) was found to have a mutation. She had metastatic colorectal cancer at the age of 38 years and had no family history of colorectal cancer or polyposis. Thirteen other subjects with no family history of familial adenomatous polyposis were tested for APC gene mutations because of a family history of colorectal adenomas in nine, cancers other than colorectal cancer in three, and a family history of brain tumor representing possible Turcot's syndrome in one. No mutation was found in any of these subjects.
Discussion
We found that 83.0 percent of 177 patients who were tested for a mutation of the APC gene had a valid indication for the test. This rate appears high in comparison with those reported in studies of the use of other diagnostic tests,24-29 but the difference may be that APC gene testing was primarily ordered by physicians with specialized knowledge of familial adenomatous polyposis. Nevertheless, nearly 20 percent of tests were ordered for indications considered unconventional according to current knowledge.
Although the majority of tests were indicated, other aspects of testing were largely ignored. Offering genetic counseling before the test and obtaining informed consent for testing are considered essential,1,9,10,16 but neither was done in over 80 percent of the cases. Twenty percent of clinically unaffected patients considered at risk underwent presymptomatic testing before the APC mutation was identified in an affected family member, which would have established the usefulness of testing. The use of genetic counseling before testing would be expected to eliminate many of these procedural errors.
Many of the physicians whom we interviewed did not recognize the limitations of the testing. Almost one third of the patients would have received an incorrect interpretation of the test. Of particular concern is that some patients at risk for familial adenomatous polyposis would have been given a false negative result. Since colorectal cancer develops in virtually all patients with this disorder, a false negative result could erroneously lead to a failure to institute endoscopic surveillance, with devastating consequences in the future. False negative results occur because the test cannot detect APC gene mutations in about 20 percent of patients with familial adenomatous polyposis. Hence, gene testing rules out this disorder in a person at risk only when no mutation is found in that person and a mutation has been identified in an affected family member.
When the APC gene test was performed for indications other than the presence of familial adenomatous polyposis, a high risk of familial adenomatous polyposis, or the possibility of attenuated familial adenomatous polyposis (in a subject with at least 20 colorectal adenomas), the rate of positive results was low (2.3 percent).
APC gene testing is just one of a large array of DNA-based tests for the identification of presymptomatic cancer or establishment of the risk of cancer. Medical, legal, and ethical issues surrounding each new genetic test will vary with the specific characteristics of the disorder. Our study supports the concept that physicians who order these tests must be prepared to offer their patients genetic counseling, either personally or through referral.
Supported by the Clayton Fund, by grants (CA62924, CA53801, and CA63721) from the National Institutes of Health, and by a service contract with LabCorp, which provides partial salary support for a genetic counselor who assists with APC gene testing. None of the authors have a financial interest in LabCorp.
We are indebted to Dr. Mary C. Corretti for advice, to Ms. Linda Welch for secretarial support, and to Mrs. Anne Krush and Ms. C. Rahj Robinson for their assistance.
Source Information
From the Departments of Medicine (F.M.G., J.D.B., L.M.H., J.A.B., S.V.B.) and Pathology (S.R.H.) and the Oncology Center (F.M.G., G.M.P., S.R.H.), Johns Hopkins University School of Medicine, Baltimore; the Departments of Epidemiology (G.M.P.) and Health Policy and Management (R.D.P.), Johns Hopkins University School of Hygiene and Public Health, Baltimore; and the Department of Molecular Biology, LabCorp, Research Triangle Park, N.C. (M.C.L.).
Address reprint requests to Dr. Giardiello at Blalock 935, Johns Hopkins Hospital, 600 N. Wolfe St., Baltimore, MD 21287-4461.
- References
References
1
Wertz DC ,Fanos JH ,Reilly PR . Genetic testing for children and adolescents: who decides? JAMA 1994;272:875-881
CrossRef | Web of Science | Medline2
Holtzman NA . Are we ready to screen for inherited susceptibility to cancer? Oncology 1996;10:57-64
Medline3
Holtzman NA. Scale-up technology: moving predictive tests for inherited breast, ovarian, and colon cancers from the bench to the bedside and beyond. In: Hereditary breast, ovarian, and colon cancer. Journal of the National Cancer Institute monographs. No. 17. Washington, D.C.: Government Printing Office, 1995:95-7. (NIH publication no. 94-03837.)
4
Carter MA. Patient-provider relationship in the context of genetic testing for hereditary cancers. In: Hereditary breast, ovarian, and colon cancer. Journal of the National Cancer Institute monographs. No. 17. Washington, D.C.: Government Printing Office, 1995:119-21. (NIH publication no. 94-03837.)
5
Hubbard R ,Lewontin RC . Pitfalls of genetic testing. N Engl J Med 1996;334:1192-1194
Full Text | Web of Science | Medline6
Brown ML ,Kessler LG . The use of gene tests to detect hereditary predisposition to cancer: economic considerations. J Natl Cancer Inst 1995;87:1131-1136
CrossRef | Web of Science | Medline7
National Advisory Council for Human Genome Research
CrossRef | Web of Science8
Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition
Medline9
Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, adopted on February 20, 1996
Web of Science | Medline10
The NIH-DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research. Interim principles of the Task Force on Genetic Testing. Baltimore: Task Force on Genetic Testing, March 1996. http://infonet.welch.jhu.edu/policy/genetics. (Also available from NAPS [document no. 05388, 33 pages], c/o Microfiche Publications, P.O. Box 3513, Grand Central Station, New York, NY 10163-3513.)
11
National action plan on breast cancer position paper: hereditary susceptibility testing for breast cancer
Web of Science12
Nishisho I ,Nakamura Y ,Miyoshi Y , et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;253:665-669
CrossRef | Web of Science | Medline13
Kinzler KW ,Nilbert MC ,Su L-K , et al. Identification of FAP locus genes from chromosome 5q21. Science 1991;253:661-665
CrossRef | Web of Science | Medline14
Groden J ,Thliveris A ,Samowitz W , et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600
CrossRef | Web of Science | Medline15
Joslyn G ,Carlson M ,Thliveris A , et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991;66:600-613
CrossRef | Web of Science16
Bussey HJR. Familial polyposis coli: family studies, histopathology, differential diagnosis, and results of treatment. Baltimore: Johns Hopkins University Press, 1975.
17
Bulow S . Familial polyposis coli. Dan Med Bull 1987;34:1-15
Web of Science | Medline18
Spirio L ,Otterud B ,Stauffer D , et al. Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. Am J Hum Genet 1992;51:92-100
Web of Science | Medline19
Petersen GM ,Slack J ,Nakamura Y . Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 1991;100:1658-1664
Web of Science | Medline20
Powell SM ,Petersen GM ,Krush AJ , et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993;329:1982-1987
Full Text | Web of Science | Medline21
Petersen GM ,Brensinger JD . Genetic testing and counseling in familial adenomatous polyposis. Oncology 1996;10:89-94
Medline22
Petersen GM . Genetic counseling and predictive genetic testing in familial adenomatous polyposis. Semin Colon Rectal Surg 1995;6:55-6023
Petersen GM, Boyd PA. Gene tests and counseling for colorectal cancer risk: lessons from familial polyposis. In: Hereditary breast, ovarian, and colon cancer. Journal of the National Cancer Institute monographs. No. 17. Washington, D.C.: Government Printing Office, 1995:67-71. (NIH publication no. 94-03837.)
24
Goldman L ,Feinstein AR ,Batsford WP ,Cohen LS ,Gottschalk A ,Zaret BL . Ordering patterns and clinical impact of cardiovascular nuclear medicine procedures. Circulation 1980;62:680-687
Web of Science | Medline25
Goldman L ,Cohn PF ,Mudge GH Jr , et al. Clinical utility and management impact of M-mode echocardiography. Am J Med 1983;75:49-56
CrossRef | Web of Science | Medline26
Chassin MR ,Kosecoff J ,Solomon DH ,Brook RH . How coronary angiography is used -- clinical determinants of appropriateness. JAMA 1987;258:2543-2547
CrossRef | Web of Science | Medline27
Kahn KL ,Kosecoff J ,Chassin MR ,Solomon DH ,Brook RH . The use and misuse of upper gastrointestinal endoscopy. Ann Intern Med 1988;109:664-670
Web of Science | Medline28
McDonald IG ,Guyatt GH ,Gutman JM ,Jelinek VM ,Fox P ,Daly J . The contribution of a non-invasive test to clinical care -- the impact of echocardiography on diagnosis, management and patient anxiety. J Clin Epidemiol 1988;41:151-161
CrossRef | Web of Science | Medline29
Bernstein SJ ,Hilborne LH ,Leape LL , et al. The appropriateness of use of coronary angiography in New York State. JAMA 1993;269:766-769
CrossRef | Web of Science | Medline
- Citing Articles (157)
Citing Articles
1
Lora J. Bean, Judith Fridovich-Keil, Madhuri Hegde, M. Katharine Rudd, Kathryn B. Garber. (2011) The virtual diagnostic laboratory: A new way of teaching undergraduate medical students about genetic testing. Genetics in Medicine 13:11, 973-977
CrossRef2
Elena B. Elkin, Deborah A. Marshall, Nathalie A. Kulin, Ilia L. Ferrusi, Michael J. Hassett, Uri Ladabaum, Kathryn A. Phillips. (2011) Economic evaluation of targeted cancer interventions: Critical review and recommendations. Genetics in Medicine 13:10, 853-860
CrossRef3
Ambroise Wonkam, Alfred K. Njamnshi, Dora Mbanya, Jeanne Ngogang, Caryl Zameyo, Fru F. Angwafo. (2011) Acceptability of Prenatal Diagnosis by a Sample of Parents of Sickle Cell Anemia Patients in Cameroon (Sub-Saharan Africa). Journal of Genetic Counseling 20:5, 476-485
CrossRef4
Warren Hyer. 2011. Pediatric Polyposis Syndromes. , 462-471.
CrossRef5
Fábio Guilherme C.M. de Campos, Isabella Nicácio De Freitas, Antônio Rocco Imperiale, Víctor Edmond Seid, Rodrigo Oliva Perez, Sérgio Carlos Nahas, Ivan Cecconello. (2010) El cáncer colorrectal en la poliposis adenomatosa familiar: ¿existen factores clínicos de predicción?. Cirugía Española 88:6, 390-397
CrossRef6
Elena M. Stoffel, Anu Chittenden. (2010) Genetic Testing for Hereditary Colorectal Cancer: Challenges in Identifying, Counseling, and Managing High-Risk Patients. Gastroenterology 139:5, 1436-1441.e1
CrossRef7
Emily Steinhagen, Arnold J. Markowitz, José G. Guillem. (2010) How to Manage a Patient with Multiple Adenomatous Polyps. Surgical Oncology Clinics of North America 19:4, 711-723
CrossRef8
Theresa Tran, Andrew G Gianoukakis. (2010) Familial thyroid neoplasia: impact of technological advances on detection and monitoring. Current Opinion in Endocrinology, Diabetes and Obesity 17:5, 425-431
CrossRef9
Julianne M. O’Daniel. (2010) The Prospect of Genome-guided Preventive Medicine: A Need and Opportunity for Genetic Counselors. Journal of Genetic Counseling 19:4, 315-327
CrossRef10
Megan Latchaw, Kelly Ormond, Maureen Smith, John Richardson, Catherine Wicklund. (2010) Health insurance coverage of genetic services in Illinois. Genetics in Medicine 12:8, 525-531
CrossRef11
Ignacio Alfaro, Teresa Ocaña, Antoni Castells, Carmen Cordero, Marta Ponce, Teresa Ramón Y Cajal, Montserrat Andreu, Luis Bujanda, Maite Herráiz, Antonio José Hervás Molina, Fernando Fernández-Bañares, Sabino Riestra-Menéndez, Carla Gargallo, Ana Ruiz, Marco Bustamante, Ignacio Blanco, Fernando Martínez de Juan. (2010) Características de los pacientes con poliposis adenomatosa familiar en España. Resultados iniciales del Registro Español de Poliposis Adenomatosa Familiar. Medicina Clínica 135:3, 103-108
CrossRef12
Christine J. Ko. (2010) Muir-Torre syndrome: Facts and controversies. Clinics in Dermatology 28:3, 324-329
CrossRef13
Edward Juhn, Amor Khachemoune. (2010) Gardner Syndrome. American Journal of Clinical Dermatology 11:2, 117-122
CrossRef14
Rony E. Duncan, Lynn Gillam, Julian Savulescu, Robert Williamson, John G. Rogers, Martin B. Delatycki. (2010) The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis. Familial Cancer 9:1, 27-35
CrossRef15
Jeffrey R. Botkin, Steven M. Teutsch, Celia I. Kaye, Maxine Hayes, James E. Haddow, Linda A. Bradley, Kathleen Szegda, W. David Dotson. (2010) Outcomes of interest in evidence-based evaluations of genetic tests. Genetics in Medicine1
CrossRef16
Tabitha A. Harrison, Debra Lochner Doyle, Caroline McGowan, Leslie Cohen, Elizabeth Repass, Ruthann B. Pfau, Trish Brown. (2010) Billing for Medical Genetics and Genetic Counseling Services: A National Survey. Journal of Genetic Counseling 19:1, 38-43
CrossRef17
Fábio Guilherme C.M. de Campos, Isabella Nicácio De Freitas, Antônio Rocco Imperiale, Víctor Edmond Seid, Rodrigo Oliva Perez, Sérgio Carlos Nahas, Ivan Cecconello. (2010) Colorectal cancer in familial adenomatous polyposis: Are there clinical predictive factors?. Cirugía Española (English Edition) 88:6, 390-397
CrossRef18
David Whitcomb, Julia Greer. (2009) Germ-Line Mutations, Pancreatic Inflammation, and Pancreatic Cancer. Clinical Gastroenterology and Hepatology 7:11, S29-S34
CrossRef19
Jeffrey R. Lewis, Vani Konda, David T. Rubin. (2009) Genetic Testing for Inflammatory Bowel Disease: Focus Group Analysis of Patients and Family Members. Genetic Testing and Molecular Biomarkers 13:4, 495-503
CrossRef20
Lee H. Hilborne, Ira M. Lubin, Maren T. Scheuner. (2009) The beginning of the second decade of the era of patient safety: Implications and roles for the clinical laboratory and laboratory professionals. Clinica Chimica Acta 404:1, 24-27
CrossRef21
Myra I. Roche, Debra Skinner. (2009) How Parents Search, Interpret, and Evaluate Genetic Information Obtained from the Internet. Journal of Genetic Counseling 18:2, 119-129
CrossRef22
Ira M. Lubin, Margaret M. McGovern, Zoe Gibson, Susan J. Gross, Elaine Lyon, Roberta A. Pagon, Victoria M. Pratt, Jamila Rashid, Colleen Shaw, Lander Stoddard, Tracy L. Trotter, Marc S. Williams, Jean Amos Wilson, Kenneth Pass. (2009) Clinician Perspectives about Molecular Genetic Testing for Heritable Conditions and Development of a Clinician-Friendly Laboratory Report. The Journal of Molecular Diagnostics 11:2, 162-171
CrossRef23
Alice Woo, Amit Sadana, David T. Mauger, Maria J. Baker, Terri Berk, Thomas J. McGarrity. (2009) Psychosocial impact of Peutz-Jeghers Syndrome. Familial Cancer 8:1, 59-65
CrossRef24
Somsri Pitukkijronnakorn, Jittima Manonai, Apichart Chittacharoen. (2009) Doctors' attitudes towards invasive prenatal diagnosis. Journal of Obstetrics and Gynaecology Research 35:1, 73-77
CrossRef25
Sarah Cunningham-Burley. 2008. Public and Professional Understandings of Genetics. .
CrossRef26
Ira M. Lubin, Michele Caggana, Carolyn Constantin, Susan J. Gross, Elaine Lyon, Roberta A. Pagon, Tracy L. Trotter, Jean Amos Wilson, Margaret M. McGovern. (2008) Ordering Molecular Genetic Tests and Reporting Results. The Journal of Molecular Diagnostics 10:5, 459-468
CrossRef27
Ulf Kristoffersson. (2008) Regulatory Issues for Genetic Testing in Clinical Practice. Molecular Biotechnology 40:1, 113-117
CrossRef28
Ellen Matloff, Arthur Caplan. (2008) Direct to Confusion: Lessons Learned from Marketing BRCA Testing. The American Journal of Bioethics 8:6, 5-8
CrossRef29
Beth N. Peshkin, Tiffani A. DeMarco, Kristi D. Graves, Karen Brown, Rachel H. Nusbaum, Diana Moglia, Andrea Forman, Heiddis Valdimarsdottir, Marc D. Schwartz. (2008) Telephone Genetic Counseling for High-Risk Women Undergoing BRCA1 and BRCA2 Testing: Rationale and Development of a Randomized Controlled Trial. Genetic Testing 0:0, 080327164308306
CrossRef30
Beth N. Peshkin, Tiffani A. DeMarco, Kristi D. Graves, Karen Brown, Rachel H. Nusbaum, Diana Moglia, Andrea Forman, Heiddis Valdimarsdottir, Marc D. Schwartz. (2008) Telephone Genetic Counseling for High-Risk Women Undergoing BRCA1 and BRCA2 Testing: Rationale and Development of a Randomized Controlled Trial. Genetic Testing 12:1, 37-52
CrossRef31
Douglas L. Riegert-Johnson, Daniela Macaya, Timothy W. Hefferon, Lisa A. Boardman. (2008) The incidence of duplicate genetic testing. Genetics in Medicine 10:2, 114-116
CrossRef32
Tiffani A. DeMarco, Karen L. Smith, Rachel H. Nusbaum, Beth N. Peshkin, Marc D. Schwartz, Claudine Isaacs. (2007) Practical Aspects of Delivering Hereditary Cancer Risk Counseling. Seminars in Oncology 34:5, 369-378
CrossRef33
Robert Klitzman, Deborah Thorne, Jennifer Williamson, Karen Marder. (2007) The roles of family members, health care workers, and others in decision-making processes about genetic testing among individuals at risk for Huntington disease. Genetics in Medicine 9:6, 358-371
CrossRef34
Siobhan McCann, Domhnall MacAuley, Yvonne Barnett, Brendan Bunting, Aoife Bradley, Lisa Jeffers, Patrick J. Morrison. (2007) Cancer genetics: consultants? perceptions of their roles, confidence and satisfaction with knowledge. Journal of Evaluation in Clinical Practice 13:2, 276-286
CrossRef35
KM Kelly, K Sweet. (2007) In search of a familial cancer risk assessment tool. Clinical Genetics 71:1, 76-83
CrossRef36
Susanne B. Haga, Huntington F. Willard. (2006) Defining the spectrum of genome policy. Nature Reviews Genetics 7:12, 966-972
CrossRef37
Robert Gryfe. (2006) Clinical Implications of Our Advancing Knowledge of Colorectal Cancer Genetics: Inherited Syndromes, Prognosis, Prevention, Screening and Therapeutics. Surgical Clinics of North America 86:4, 787-817
CrossRef38
Carol A. Durno, Steven Gallinger. (2006) Genetic Predisposition to Colorectal Cancer. Journal of Pediatric Gastroenterology and Nutrition 43:1, 5-15
CrossRef39
Margaret M. McGovern, Melanie Johnston, Karen Brown, Randi Zinberg, Devra Cohen. (2006) Use of Standardized Patients in, Undergraduate Medical Genetics Education. Teaching and Learning in Medicine 18:3, 203-207
CrossRef40
Ambroise Wonkam, Alfred K. Njamnshi, Fru F. Angwafo. (2006) Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa). Genetics in Medicine 8:6, 331-338
CrossRef41
Gail H. Javitt. (2006) Policy Implications of Genetic Testing: Not Just for Geneticists Anymore. Advances in Chronic Kidney Disease 13:2, 178-182
CrossRef42
Edward N. Libby, Jessica K. Booker, Margaret L. Gulley, David Garcia, Stephan Moll. (2006) False-negative factor V Leiden genetic testing in a patient with recurrent deep venous thrombosis. American Journal of Hematology 81:4, 284-289
CrossRef43
Polymnia Galiatsatos, William D. Foulkes. (2006) Familial Adenomatous Polyposis. The American Journal of Gastroenterology 101:2, 385-398
CrossRef44
Konstantinos N. Lazaridis, Brian D. Juran. (2005) American Gastroenterological Association Future Trends Committee Report: The Application of Genomic and Proteomic Technologies to Digestive Disease Diagnosis and Treatment and Their Likely Impact on Gastroenterology Clinical Practice. Gastroenterology 129:5, 1720-1752
CrossRef45
Yuki Young, Jonathan P. Terdiman. (2005) Endoscopic Management of Familial Colonic Neoplasia. Gastrointestinal Endoscopy Clinics of North America 15:3, 549-580
CrossRef46
Brett W. Doxey, Scott K. Kuwada, Randall W. Burt. (2005) Inherited Polyposis Syndromes: Molecular Mechanisms, Clinicopathology, and Genetic Testing. Clinical Gastroenterology and Hepatology 3:7, 633-641
CrossRef47
Ilse J. Anderson, Karla J. Matteson. (2005) New Directions in Cytogenetic and Molecular Testing of the Neonate. Seminars in Perinatology 29:3, 144-149
CrossRef48
Susan Thomas Vadaparampil, Louise Wideroff, Lorayn Olson, K. Viswanath, Andrew N. Freedman. (2005) Physician exposure to and attitudes toward advertisements for genetic tests for inherited cancer susceptibility. American Journal of Medical Genetics Part A 135A:1, 41-46
CrossRef49
David T Rubin. (2005) To test or “NOD-2” test: What are the questions?. The balanced viewpoint. Inflammatory Bowel Diseases 11:5, 510-512
CrossRef50
Steven R Brant, Dermot P. B. McGovern. (2005) NOD2, not yet. Con. Inflammatory Bowel Diseases 11:5, 507-509
CrossRef51
Anders Merg, Henry T. Lynch, Jane F. Lynch, James R. Howe. (2005) Hereditary colon cancer—Part I. Current Problems in Surgery 42:4, 195-256
CrossRef52
R. P. Ojha, R. Thertulien. (2005) Health Care Policy Issues as a Result of the Genetic Revolution: Implications for Public Health. American Journal of Public Health 95:3, 385-388
CrossRef53
Peter T. Rowley. (2004) Screening for an Inherited Susceptibility to Colorectal Cancer. Genetic Testing 8:4, 421-430
CrossRef54
Wylie Burke. (2004) GENETIC TESTING IN PRIMARY CARE. Annual Review of Genomics and Human Genetics 5:1, 1-14
CrossRef55
Ellen T. Matloff, Karina L. Brierley, Christina M. Chimera. (2004) A Clinician??s Guide to Hereditary Colon Cancer. The Cancer Journal 10:5, 280-287
CrossRef56
Charles J. Epstein. (2004) Genetic testing: Hope or hype?. Genetics in Medicine 6:4, 165-172
CrossRef57
Paul W. Brandt-Rauf, Sherry I. Brandt-Rauf. (2004) Genetic Testing in the Workplace: Ethical, Legal, and Social Implications. Annual Review of Public Health 25:1, 139-153
CrossRef58
Carol L. Freund, Ellen W. Clayton, Benjamin S. Wilfond. (2004) Natural Settings Trials ? Improving the Introduction of Clinical Genetic Tests. The Journal of Law, Medicine & Ethics 32:1, 106-110
CrossRef59
Roberta A Pagon. (2004) Molecular genetic testing for inherited disorders. Expert Review of Molecular Diagnostics 4:2, 135-140
CrossRef60
Mark Toraason, Richard Albertini, Steven Bayard, William Bigbee, Aaron Blair, Paolo Boffetta, Stefano Bonassi, Steven Chanock, David Christiani, David Eastmond, Samuel Hanash, Carol Henry, Fred Kadlubar, Frank Mirer, Daniel Nebert, Stephen Rapport, Kathleen Rest, Nathaniel Rothman, Avima Ruder, Russell Savage, Paul Schulte, Jack Siemiatycki, Peter Shields, Martyn Smith, Paige Tolbert, Roel Vermeulen, Paolo Vineis, Sholom Wacholder, Elizabeth Ward, Michael Waters, Ainsley Weston. (2004) Applying New Biotechnologies to the Study of Occupational Cancer--A Workshop Summary. Environmental Health Perspectives 112:4, 413-416
CrossRef61
Henry T. Lynch, Bronson D. Riley, Scott Weismann, Stephanie M. Coronel, Yulia Kinarsky, Jane F. Lynch, Trudy G. Shaw, Wendy S. Rubinstein. (2004) Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: Problems in diagnosis, surveillance, and management. Cancer 100:1, 53-64
CrossRef62
Marcia Cruz-Correa, Francis M. Giardiello. 2004. Familial Adenomatous Polyposis (FAP). , 1-5.
CrossRef63
Angel Ferrández, James A DiSario. (2003) Colorectal cancer: screening and surveillance for high-risk individuals. Expert Review of Anticancer Therapy 3:6, 851-862
CrossRef64
Henry T. Lynch, Carolyn A. Deters, David Hogg, Jane F. Lynch, Yulia Kinarsky, Zoran Gatalica. (2003) Familial sarcoma. Cancer 98:9, 1947-1957
CrossRef65
Cabot, Richard C.Harris, Nancy Lee, McNeely, William F., Shepard, Jo-Anne O., Ebeling, Sally H.Ellender, Stacey M.Peters, Christine C., Chung, Daniel C., Mino, Mari, Shannon, Kristen M., . (2003) Case 34-2003. New England Journal of Medicine 349:18, 1750-1760
Full Text66
Nickolas Papadopoulos. (2003) Conversion technology and its role in genetic testing of inherited diseases. Expert Review of Molecular Diagnostics 3:4, 497-506
CrossRef67
A.N. Freedman, L. Wideroff, L. Olson, W. Davis, C. Klabunde, K.P. Srinath, B.B. Reeve, R.T. Croyle, R. Ballard-Barbash. (2003) US physicians' attitudes toward genetic testing for cancer susceptibility. American Journal of Medical Genetics 120A:1, 63-71
CrossRef68
Margaret M. McGovern, Marta Benach, Randi Zinberg. (2003) Interaction of genetic counselors with molecular genetic testing laboratories: Implications for non-geneticist health care providers. American Journal of Medical Genetics 119A:3, 297-301
CrossRef69
Suzanne M. Cox, W. Andrew Faucett, Bin Chen, Elisabeth Dequeker, D. Joe Boone, Margaret M. McGovern, and Ira M. Lubin. (2003) International genetic testing. Genetics in Medicine 5:3, 176-182
CrossRef70
Marie Krousel-Wood, Hans C. Andersson, Janet Rice, Kelly E. Jackson, Eunice R. Rosner, and Ira M. Lubin. (2003) Physicians’ perceived usefulness of and satisfaction with test reports for cystic fibrosis (ΔF508) and factor V Leiden. Genetics in Medicine 5:3, 166-171
CrossRef71
William M. Grady. (2003) Genetic testing for high-risk colon cancer patients1 1Abbreviations used in this paper: FAP, familial adenomatous polyposis; HMPS, hereditary mixed polyposis syndrome; HNPCC, hereditary nonpolyposis colon cancer; JPS, juvenile polyposis; MMR, mutation mismatch repair; MSI, microsatellite instability; PJS, Peutz-Jeghers syndrome; TGF, transforming growth factor.. Gastroenterology 124:6, 1574-1594
CrossRef72
David E Loren, James Lewis, Michael L Kochman. (2003) Colon cancer: detection and prevention. Hematology/Oncology Clinics of North America 17:2, 553-574
CrossRef73
Marcia Cruz-Correa, Francis M Giardiello. (2003) Diagnosis and management of hereditary colon cancer. Hematology/Oncology Clinics of North America 17:2, 539-551
CrossRef74
Brian A Allen, Jonathan P Terdiman. (2003) Hereditary polyposis syndromes and hereditary non-polyposis colorectal cancer. Best Practice & Research Clinical Gastroenterology 17:2, 237-258
CrossRef75
Guttmacher, Alan E., Collins, Francis S., , Lynch, Henry T., de la Chapelle, Albert, . (2003) Hereditary Colorectal Cancer. New England Journal of Medicine 348:10, 919-932
Full Text76
Theresa M. Frezzo, Wendy S. Rubinstein, Daniel Dunham, Kelly E. Ormond. (2003) The genetic family history as a risk assessment tool in internal medicine. Genetics in Medicine 5:2, 84-91
CrossRef77
Katrina Armstrong, Barbara Weber, Jill Stopfer, Kathleen Calzone, Mary Putt, James Coyne, J. Sanford Schwartz. (2003) Early use of clinical BRCA1/2 testing: Associations with race and breast cancer risk. American Journal of Medical Genetics Part A 117A:2, 154-160
CrossRef78
Teresa Doksum, Barbara A. Bernhardt, Neil A. Holtzman. (2003) Does knowledge about the genetics of breast cancer differ between nongeneticist physicians who do or do not discuss or order BRCA testing?. Genetics in Medicine 5:2, 99-105
CrossRef79
Christopher A. Friedrich. (2003) The Role of DNA Testing in Breast, Ovarian, and Colon Cancers. The American Journal of the Medical Sciences 325:3, 120-124
CrossRef80
Pamela Sankar. (2003) Genetic Privacy. Annual Review of Medicine 54:1, 393-407
CrossRef81
Kathleen Barnes, Steven Itzkowitz, Karen Brown. (2003) Teaching clinical management skills for genetic testing of hereditary nonpolyposis colorectal cancer using a Web-based tutorial. Genetics in Medicine 5:1, 43-48
CrossRef82
Lisa A Boardman. (2002) Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterology Clinics of North America 31:4, 1107-1131
CrossRef83
Angel Ferrández, James A. DiSario. (2002) Hereditary colorectal cancer: Screening and management. Current Treatment Options in Oncology 3:6, 459-474
CrossRef84
Wylie Burke, Linda E. Pinsky, Nancy A. Press. (2002) Categorizing genetic tests to identify their ethical, legal, and social implications. American Journal of Medical Genetics 106:3, 233-240
CrossRef85
Alan E. Guttmacher, Jean Jenkins, Wendy R. Uhlmann. (2002) Genomic medicine: Who will practice it? A call to open arms. American Journal of Medical Genetics 106:3, 216-222
CrossRef86
J. D. Trimbath, F. M. Giardiello. (2002) Genetic testing and counselling for hereditary colorectal cancer. Alimentary Pharmacology and Therapeutics 16:11, 1843-1857
CrossRef87
Carolina M. Reyes, Brian A. Allen, Jonathan P. Terdiman, Leslie S. Wilson. (2002) Comparison of selection strategies for genetic testing of patients with hereditary nonpolyposis colorectal carcinoma. Cancer 95:9, 1848-1856
CrossRef88
Karen Greendale, Reed E. Pyeritz. (2002) Empowering primary care health professionals in medical genetics: How soon? How fast? How far?. American Journal of Medical Genetics 106:3, 223-232
CrossRef89
Curtis Naser, Sheri Alpert. 2002. Genetic Information, Ethics, Ethical Issues in Tissue Banking and Human Subject Research in Stored Tissues. .
CrossRef90
Anne L. Matthews. 2002. Genetic Counseling. .
CrossRef91
Anny Huang. 2002. Genetic Information, Legal, FDA Regulation of Genetic Testing. .
CrossRef92
Kimberly A. Quaid. 2002. Genetic Information, Ethics, Informed Consent to Testing and Screening. .
CrossRef93
Brad Trowbridge, Randall W. Burt. (2002) Colorectal cancer screening. Surgical Clinics of North America 82:5, 943-957
CrossRef94
Steven H. Erdman, John A. Barnard. (2002) Gastrointestinal polyps and polyposis syndromes in children. Current Opinion in Pediatrics 14:5, 576-582
CrossRef95
Hans C. Andersson, Marie A. Krousel-Wood, Kelly E. Jackson, Janet Rice, Ira M. Lubin. (2002) Medical genetic test reporting for cystic fibrosis (??F508) and factor V Leiden in North American laboratories. Genetics in Medicine 4:5, 324-327
CrossRef96
Kathryn A Peterson, James A DiSario. (2002) Secondary prevention: screening and surveillance of persons at average and high risk for colorectal cancer. Hematology/Oncology Clinics of North America 16:4, 841-865
CrossRef97
Sophie Grandjouan. (2002) Surveillance des sujets à risque très élevé de cancer colorectal (polyposes, cancer colique héréditaire sans polypose). Acta Endoscopica 32:4, 633-653
CrossRef98
Marcia Cruz-Correa, Francis M Giardiello. (2002) Diagnosis and management of hereditary colon cancer. Gastroenterology Clinics of North America 31:2, 537-549
CrossRef99
David E Loren, James Lewis, Michael L Kochman. (2002) Colon cancer: detection and prevention. Gastroenterology Clinics of North America 31:2, 565-586
CrossRef100
Roberta A Pagon. (2002) Genetic testing for disease susceptibilities: consequences for genetic counseling. Trends in Molecular Medicine 8:6, 306-307
CrossRef101
Katrina Armstrong, Barbara Weber, Peter A. Ubel, Carmen Guerra, J.Sanford Schwartz. (2002) Interest in BRCA1/2 Testing in a Primary Care Population. Preventive Medicine 34:6, 590-595
CrossRef102
Giardiello, Francis M., Yang, Vincent W., Hylind, Linda M., Krush, Anne J., Petersen, Gloria M., Trimbath, Jill D., Piantadosi, Steven, Garrett, Elizabeth, Geiman, Deborah E., Hubbard, Walter, Offerhaus, G. Johan A., Hamilton, Stanley R., . (2002) Primary Chemoprevention of Familial Adenomatous Polyposis with Sulindac. New England Journal of Medicine 346:14, 1054-1059
Full Text103
LEGGETT BARBARA. (2002) When is molecular genetic testing for colorectal cancer indicated?. Journal of Gastroenterology and Hepatology 17:4, 389-393
CrossRef104
Thomas Bonk, Andreas Humeny, Christian Sutter, Johannes Gebert, Magnus von Knebel Doeberitz, Cord-Michael Becker. (2002) Molecular diagnosis of familial adenomatous polyposis (FAP): genotyping of adenomatous polyposis coli (APC) alleles by MALDI-TOF mass spectrometry. Clinical Biochemistry 35:2, 87-92
CrossRef105
James Church, Ann Lowry, Clifford Simmang. (2001) Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer—supporting documentation. Diseases of the Colon & Rectum 44:10, 1404-1412
CrossRef106
Jennifer G. Cohen, Thaddeus P. Dryja, Katherine B. Davis, Lisa R. Diller, Frederick P. Li. (2001) RB1 genetic testing as a clinical service: A follow-up study. Medical and Pediatric Oncology 37:4, 372-378
CrossRef107
Michael J. Green, Barbara B. Biesecker, Aideen M. McInerney, David Mauger, Norman Fost. (2001) An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility. American Journal of Medical Genetics 103:1, 16-23
CrossRef108
Linda M. Sandhaus, Mendel E. Singer, Neal V. Dawson, Georgia L. Wiesner. (2001) Reporting BRCA test results to primary care physicians. Genetics in Medicine 3:5, 327-334
CrossRef109
Lainie Friedman Ross. (2001) Genetic Exceptionalism vs. Paradigm Shift: Lessons from HIV. The Journal of Law, Medicine & Ethics 29:2, 141-148
CrossRef110
Katherine T Morris, Nathalie Johnson, Natalie Krasikov, Marni Allen, Paul Dorsey. (2001) Genetic counseling impacts decision for prophylactic surgery for patients perceived to be at high risk for breast cancer. The American Journal of Surgery 181:5, 431-433
CrossRef111
Bret M. Wehrli, Sharon W. Weiss, Suzanne Yandow, Cheryl M. Coffin. (2001) Gardner-Associated Fibromas (GAF) in Young Patients. The American Journal of Surgical Pathology 25:5, 645-651
CrossRef112
R. F. Souza. (2001) A molecular rationale for the how, when and why of colorectal cancer screening. Alimentary Pharmacology and Therapeutics 15:4, 451-462
CrossRef113
Nancy A. Press, Yutaka Yasui, Susan Reynolds, Sharon J. Durfy, Wylie Burke. (2001) Women's interest in genetic testing for breast cancer susceptibility may be based on unrealistic expectations. American Journal of Medical Genetics 99:2, 99-110
CrossRef114
Ettore Seregni, Leonardo Ferrari, Antonia Martinetti, Emilio Bombardieri. (2001) Diagnostic and prognostic tumor markers in the gastrointestinal tract. Seminars in Surgical Oncology 20:2, 147-166
CrossRef115
Rogério Rabelo, William Foulkes, Philip H. Gordon, Nora Wong, Zhi Qiang Yuan, Elizabeth MacNamara, George Chong, Leonard Pinsky, Dana Lasko. (2001) Role of molecular diagnostic testing in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer families. Diseases of the Colon & Rectum 44:3, 437-446
CrossRef116
Lainie Friedman Ross. (2001) Genetic Exceptionalism vs. Paradigm Shift: Lessons from HIV. The Journal of Law, Medicine & Ethics 29:1, 141-148
CrossRef117
Nora Wong, Dana Lasko, Rogério Rabelo, Leonard Pinsky, Philip H. Gordon, William Foulkes. (2001) Genetic counseling and interpretation of genetic tests in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer. Diseases of the Colon & Rectum 44:2, 271-279
CrossRef118
Susan K. Peterson, Paula T. Rieger, Salma K. Marani, Carl deMoor, Ellen R. Gritz. (2001) Oncology nurses' knowledge, practice, and educational needs regarding cancer genetics. American Journal of Medical Genetics 98:1, 3-12
CrossRef119
Jeremy R Jass. (2000) Familial colorectal cancer: pathology and molecular characteristics. The Lancet Oncology 1:4, 220-226
CrossRef120
James S. Wu, Victor W. Fazio. (2000) Colon cancer. Diseases of the Colon & Rectum 43:11, 1473-1486
CrossRef121
Warren Hyer, Iain Beveridge, Paola Domizio, Robin Phillips. (2000) Clinical Management and Genetics of Gastrointestinal Polyps in Children. Journal of Pediatric Gastroenterology and Nutrition 31:5, 469-479
CrossRef122
Eliza Mountcastle-Shah, Neil A. Holtzman. (2000) Primary care physicians' perceptions of barriers to genetic testing and their willingness to participate in research. American Journal of Medical Genetics 94:5, 409-416
CrossRef123
Lauri A Aaltonen. (2000) Hereditary intestinal cancer. Seminars in Cancer Biology 10:4, 289-298
CrossRef124
Jill E. Stopfer. (2000) Genetic counseling and clinical cancer genetics services. Seminars in Surgical Oncology 18:4, 347-357
CrossRef125
Mary R. Anderlik, Elaine A. Lisko. (2000) Medicolegal and ethical issues in genetic cancer syndromes. Seminars in Surgical Oncology 18:4, 339-346
CrossRef126
Patrick Lynch. (2000) If aggressive surveillance in hereditary nonpolyposis colorectal cancer is now state of the art, are there any challenges left?. Gastroenterology 118:5, 969-971
CrossRef127
Timothy A Caulfield, E Richard Gold. (2000) Genetic testing, ethical concerns, and the role of patent law. Clinical Genetics 57:5, 370-375
CrossRef128
R Strohmenger. (2000) Adverse selection and categorical discrimination in the health insurance markets: the effects of genetic tests. Journal of Health Economics 19:2, 197-218
CrossRef129
Paula Trahan Rieger, Susan T. Tinley. (2000) Cancer Genetics and Nursing Practice: What Every Gastroenterology Nurse Needs to Know. Gastroenterology Nursing 23:1, 28-39
CrossRef130
J E King, R R Dozois, N M Lindor, D A Ahlquist. (2000) Care of patients and their families with familial adenomatous polyposis.. Mayo Clinic Proceedings 75:1, 57-67
CrossRef131
Gloria M. Petersen, Jill D. Brensinger, Karen A. Johnson, Francis M. Giardiello. (1999) Genetic testing and counseling for hereditary forms of colorectal cancer. Cancer 86:S11, 2540-2550
CrossRef132
Jeffrey N. Weitzel. (1999) Genetic cancer risk assessment. Cancer 86:S11, 2483-2492
CrossRef133
Annie On-On Chan, John Mc Luk, Wai-Mo Hui, Shiu-Kum Lam. (1999) Molecular biology of gastric carcinoma: From laboratory to bedside. Journal of Gastroenterology and Hepatology 14:12, 1150-1160
CrossRef134
Jeffrey N. Weitzel. (1999) Genetic cancer risk assessment. Cancer 86:S8, 1663-1672
CrossRef135
Gloria M. Petersen, Jill D. Brensinger, Karen A. Johnson, Francis M. Giardiello. (1999) Genetic testing and counseling for hereditary forms of colorectal cancer. Cancer 86:S8, 1720-1730
CrossRef136
Vincent W. Yang. (1999) The molecular genetics of colorectal cancer. Current Gastroenterology Reports 1:5, 449-454
CrossRef137
Jonathan P. Terdiman, Peggy G. Conrad, Marvin H. Sleisenger. (1999) Genetic testing in hereditary colorectal cancer: indications and procedures. The American Journal of Gastroenterology 94:9, 2344-2356
CrossRef138
Arno G Motulsky. (1999) If I had a gene test, what would I have and who would I tell?. The Lancet 354, S35-S37
CrossRef139
Vasen, Bulow, . (1999) Guidelines for the surveillance and management of familial adenomatous polyposis (FAP): a world wide survey among 41 registries. Colorectal Disease 1:4, 214-221
CrossRef140
FRANCIS S. COLLINS. (1999) The Human Genome Project and the Future of Medicine. Annals of the New York Academy of Sciences 882:1 GREAT ISSUES, 42-55
CrossRef141
José G. Guillem, Andrew J. Smith, Jorge Puig-La Calle, Leyo Ruo. (1999) Gastrointestinal polyposis syndromes. Current Problems in Surgery 36:4, 217-323
CrossRef142
Henry T. Lynch, Patrick M. Lynch. (1999) Invited editorial. Diseases of the Colon & Rectum 42:3, 310-312
CrossRef143
Theresa Berk, Zane Cohen, Bharati Bapat, Steven Gallinger. (1999) Negative genetic test result in familial adenomatous polyposis. Diseases of the Colon & Rectum 42:3, 307-310
CrossRef144
Ron Shaoul, Blake Papsin, Ernest Cutz, Peter Durie. (1999) Congenital Cholesteatoma in a Child Carrying a Gene Mutation for Adenomatous Polyposis Coli. Journal of Pediatric Gastroenterology & Nutrition 28:1, 100-103
CrossRef145
John Bell. (1998) Medical implications of understanding complex disease traits. Current Opinion in Biotechnology 9:6, 573-577
CrossRef146
M. B. Mahowald, M. S. Verp, R. R. Anderson. (1998) GENETIC COUNSELING: Clinical and Ethical Challenges 1. Annual Review of Genetics 32:1, 547-559
CrossRef147
Susan M. Farrington, Juili Lin-Goerke, Jessica Ling, Yute Wang, John D. Burczak, David J. Robbins, Malcolm G. Dunlop. (1998) Systematic Analysis of hMSH2 and hMLH1 in Young Colon Cancer Patients and Controls. The American Journal of Human Genetics 63:3, 749-759
CrossRef148
J. Dirk Iglehart, Alexander Miron, Barbara K. Rimer, Eric P. Winer, Donald Berry, Joellen M. Shildkraut. (1998) Overestimation of Hereditary Breast Cancer Risk. Annals of Surgery 228:3, 375-384
CrossRef149
Richard J. Tasca, Michael E. McClure. (1998) The Emerging Technology and Application of Preimplantation Genetic Diagnosis. The Journal of Law, Medicine & Ethics 26:1, 7-16
CrossRef150
Heidi A. Hamann, Robert T. Croyle. 1998. Genetic Disorders. , 409-426.
CrossRef151
HOWARD J. ALLEN. (1998) Genetic Protocols Review by Institutional Review Boards at National Cancer Institute-Designated Cancer Centers. Genetic Testing 2:4, 329-336
CrossRef152
M. K. Cho, M. Arruda, N. A. Holtzman. (1997) Educational material about genetic tests: Does it provide key information for patients and practitioners?. American Journal of Medical Genetics 73:3, 314-320
CrossRef153
(1997) Consent for Clinical Research. New England Journal of Medicine 337:4, 282-283
Full Text154
Roberta A. Pagon. (1997) Multilocus FISH Analysis. The American Journal of Human Genetics 61:1, 16-17
CrossRef155
Healy, Bernadine, . (1997) BRCA Genes — Bookmaking, Fortunetelling, and Medical Care. New England Journal of Medicine 336:20, 1448-1449
Full Text156
Veatch, Robert M., . (1997) Consent, Confidentiality, and Research. New England Journal of Medicine 336:12, 869-870
Full Text157
KATHERINE A. SCHNEIDER. (1997) Genetic Counseling for BRCA1/BRCA2 Testing. Genetic Testing 1:2, 91-98
CrossRef
