Below is reference material for information found throughout the site. You will also find helpful sites featuring genetic testing and clinical management resources. Below references, choose from links to the Web sites of a range of organizations.

1. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer. 1999;81:214-218.

2. Lynch H, Harris R, Lynch P. Role of heredity in multiple primary cancers. Cancer. 1977;40:1849-1854.

3. Easton DF, et al. Breast and ovarian cancer incidence in BRCA1 mutation carriers. Am J Hum Genet. 1995;56:265-271.

4. Ford D, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998;62:676-689.

5. Ford D, et al. Risks of cancer in BRCA1 mutation carriers. Lancet. 1994;343:692-695.

6. Hall MA and Rich S. Laws restricting health insurers' use of genetic information: impact on Genetic Discrimination," Am J Hum Genet 2000;66:293-307.

7. Järvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829-834.

8. Claus EB, Schildkrauten JM, Thompson WD, Risch NJ, et al. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77:2318-2324.

9. Coughlin SS, et al. BRCA1 and BRCA2 gene mutations and risk of breast cancer. Public health perspectives. Am J Prev Med. 1999;16(2):91-98.

10. Statement of the American Society of Clinical Oncology: Genetic Testing for Cancer Susceptibility. J Clin Oncol. 1996;14(5):1730-1736.

11. Narod SA, et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study." Lancet. 2000;356:1876-1881.

12. Narod SA, et al. Oral contraceptives and the risk of hereditary ovarian cancer." N Engl J Med. 1998;339:424-428.

13. Hartmann LC, et al. Bilateral prophylactic mastectomy (PM) in BRCA1/2 mutation carriers. Proc Am Assoc Ca Res. 2000;41:222-223.

14. Rebbeck TR, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations." N Engl J Med. 2002;346(21):1616-1622.

15. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper, KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals." J Clin Oncol. 20:1480-1490, 2002.

16. Verhoog LC, et al. Survival and tumour characteristics of breast cancer patients with germline mutations of BRCA1. Lancet. 1998; 351:316-21.

17. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers." J Natl. Cancer Inst. 1999;91:1310-1316.

18. Burke W, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II BRCA1 and BRCA2. JAMA. 1997;277:997-1003.

19. Struewing JP, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997;336:1401-1408.

20. Mecklin J, Järvinen HJ. Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum. 1986:29:160-164.

21. Burke W, Petersen G, Lynch P, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium. JAMA. 1997:277:915-919.

22. Vasen HFA, Watson P, Mecklin J-P, Lynch HT, and the ICG-HNPCC. New clinical criteria for hereditary nonpolyposis colon cancer (HNPCC, Lynch Syndrome): proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116:1453-1456.

23. Li G, Tamura K, Yamamoto Y, et al. Molecular and clinical study of familiar adenomatous polyposis for genetic testing and management. Journal of Experimental and Clinical Cancer Research. 1999;519.

24. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001;121:198-213.

25. Spirio L, Olschwang S, Groden J. et al. Alleles of the APC gene: An attenuated form of familial polyposis. Cell. 1993; 75:951-957.

26. Nugent KP, Spigelman AD, Philips RK. Risk of extracolonic cancer in familial adenomatous polyposis. Br J Surg. 1996; 83:1121-1122.

27. Lindor NM, Greene MH. The concise handbook of family cancer syndromes. J Natl Cancer Inst. 1998; 90(14): 1039-1071.

28. Vasen F, Juul T, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996; 110:1020-1027.

29. Lynch HT, Smyrk T, McGinn T, et al. Attenuated familial adenomatous polyposis (AFAP): a phenotypically and geneotypically distinctive variant of FAP. Cancer. 1995;76:2427-2433.

30. Bussey HJR. Familial Polyposis Coli: Family Studies, Histopathology, Differential Diagnosis, and Results of Treatment. Baltimore, MD: Johns Hopkins University Press; 1975.

31. Bulow S, Faurschou Nielson T, Bulow C, et al. The incidence rate of familial adenomatous polyposis: results from the Danish Polyposis Register. Int J Colorectal Dis. 1996;11:88-91.

32. American Gastroenterological Association. American Gastroenterological Association medical position statement: hereditary colorectal cancer and genetic testing. Gastroenterology. 2001;121(1):195-197.

33. American Society of Clinical Oncology. Genetic testing for cancer susceptibility. J Clin Oncol. 1996; 14(5):1730-1736.

34. Lynch H, Smyrk T, et al. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology. 1993;104:1535-1549.

35. American Cancer Society. Cancer Facts & Figures 2001. New York, NY: American Cancer Society; 2001. Publication 01-300M-No. 5008.61.

36. Brensigner JD, Laken SJ, Luce MC, et al. Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. Gut. 1998:548.

37. American Cancer Society. Cancer Facts & Figures 2005. Atlanta: American Cancer Society; 2005.

38. Vogelstein B, Kinzler K. The Genetic Basis of Human Cancer. 1998; San Francisco: 507-18.

39. Greene MH (1999) The genetics of hereditary melanoma and nevi. 1998 update. Cancer 86:2464-77.

40. See A, B and C below.

A. Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J, et al. (1994) Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 8:23-6.

B. Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, Hegi ME, Wiseman RW, Petty EM, Bale AE, et al. (1992) Assignment of a locus for familial melanoma, MLM, to chromosome 9p13- p22. Science 258:1148-52.

C. Nobori T, Miura K, Wu DJ, Lois A, Takabayashi K, Carson DA (1994) Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 368:753-6.

41. Kadmon M, Tandara A, Herfarth C. Duodenal adenomatosis in familial adenomatous polyposis coli: a review of the literature and results from the Heidelberg Polyposis Register. Int J Colorectal Dis. 2001; 16:63-75.42.

42. Hoyle C, Burt RW. Familial adenomatous polyposis. Available at: http://www.geneclinics.org/profiles/fap/details.html. Accessed June 21, 2002

43. Feuer EJ, Wun LM. DEVCAN: Probability of developing or dying of cancer, software version, 4.0. National Cancer Institute, 1999.

44. Lynch HT, Thorson AG, McComb RD, et al. Familial adenomatous polyposis and extracolonic cancer. Dig Dis Sci. 2001;46(110):2325-2332.

45. Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2000;18:2193-2200.

46. Soravia C, Berk T, Madlensky L, et al. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet. 1998;62:1290-1301.

47. Constantino J, Gail MH, et al. Validation studies for models projecting the risk of invasive and total breast cancer incidence. J Natl Cancer Inst. 1999;91(18):1541-1548.

48. Gayther SA, Russell P, Harrington P, et al. The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: No evidence for other ovarian cancer-susceptibility genes. Am J Hum Genet. 1999;65:1021-1029.

49. Plaschke J, Engel C, Kruger S, et al. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium. J Clin Oncol. 2004;22:4486-4494.

50. Hendriks YM, Wagner A, Morreau H, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance. Gastroenterology. 2004;127:17-25.

51. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. Journal of the National Cancer Institute 2004;96:261-8.

52. Burt R. Colon cancer screening. Gastroenterology 2000;119:837-53.

53. Winawer S, Fletcher R, Rex D, et al. Colorectal cancer screening and surveillance: clinical guidelines and rationale – update based on new evidence. Gastroenterology 2003;124:544-60.

54. Church J, Simmang C. Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Diseases of the Colon & Rectum 2003;46:1001-12.

55. Burt RW, Leppert MF, Slattery ML, et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 2004;127:444-451.

56. Wang L, Baudhuin LM, Boardman LA, et al. MYH mutations in patients with attenuated and classical polyposis and young onset colorectal cancer without polyps. Gastroenterology 2004;127:9-16.

57. Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. New England Journal of Medicine 2003;348:791-99.

58. Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. Nature Genetics 2002;30:227-32.

59. Fleischmann C, Peto J, Cheadle J, et al. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. International Journal of Cancer 2004;109:554-8.

60. King JE, Dozois RR, Lindor NM, et al. Care of patients and their families with familial adenomatous polyposis. Mayo Clinic Proceedings 2000;75:57-67.

61. Gismondi V, Meta M, Bonelli L, et al. Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. International Journal of Cancer 2004;109:680-4.

Related Organizations

GeneTests™
www.genetests.org
An online directory of laboratories performing disease-specific clinical and/or research testing of inheritable disorders, a listing of genetic clinics, information about issues encountered in genetic testing and genetic counseling, and a teaching tool for genetics professionals.

GeneClinics™
www.geneclinics.org
A clinical information resource relating genetic testing to the diagnosis, management and genetic counseling of individuals and families with specific inherited disorders.

Online Mendelian Inheritance In Man (OMIM)
www.ncbi.nlm.nih.gov/Omim
Allows queries by genetic disease and offers a description, clinical features, biochemical features, inheritance, mapping, molecular genetics, pathogenesis, diagnosis, clinical management, animal model, history as well as references.

American Medical Association, Medical Science Genetics Education Online
www.ama-assn.org
Provides genetics education resources, genetics policy, applied genetics and links to relevant medical specialty society genetics sites.

American College of Medical Genetics
www.acmg.net
Stimulates and supports patient care, education and research in the field of medical genetics, and fosters the development and implementation of methods of diagnosis, treatment and prevention of genetic disease. Also promotes uniform standards of laboratory quality assurance and proficiency testing, and increases access to medical genetics.

American Society for Clinical Oncology
www.asco.org
Nonprofit organization founded by a small group of physician members of the American Association of Cancer Research (AACR) who recognized the need for the creation of a separate society dedicated to issues unique to clinical oncology.

American Cancer Society
www.cancer.org
The American Cancer Society provides answers to questions about the nature of cancer, its causes and risk factors. This organization provides strategies for prevention, new diagnostic techniques and the latest treatment options.

BRCAPRO
astor.som.jhmi.edu/BayesMendel/brcapro.html
A model and software for genetic counseling of women at high risk of hereditary breast and ovarian cancer.

CancerNet
www.cancernet.nci.nih.gov
A gateway to the most recent and accurate cancer information from the National Cancer Institute (NCI) and contains the PDQ cancer information summaries on cancer genetics.

www.cancer.gov/search/genetics_services/
NCI directory listing of specially trained genetic counselors, nurses and other healthcare professionals.

Secretary's Advisory Committee on Genetic Testing (SACGT)
www4.od.nih.gov/oba/sacgt.htm
Covers a range of issues regarding genetic testing.

Centers for Disease Control and Prevention (CDC) Office of Genetics
www.cdc.gov/genomics/default.htm
Integrates the advances in human genetics into public health research, policy and programs.

National Cancer Institute
www.nci.nih.gov
Leading the nation's fight against cancer by supporting and conducting groundbreaking research in cancer biology, causation, prevention, detection, treatment, and survival.

National Coalition for Health Professional Education in Genetics (NCHPEG)
www.nchpeg.org
An interdisciplinary group of leaders from approximately 100 diverse health professional organizations, consumer and voluntary groups, government agencies, private industry, managed care organizations and genetics professional societies - supports a national effort to promote health professional education and access to information about advances in human genetics.

National Human Genome Research Institute
www.genome.gov
The official government Web site for the Human Genome project, an international research effort to characterize the genomes of humans and selected model organizations through complete mapping and sequencing of their DNA.

Genetic Alliance
www.geneticalliance.org
This is an international coalition representing more than 300 health professional organizations to improve the quality of life for those impacted by genetics.

» Glossary