Home › Resources › References

References

PrintPrint
  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. Gronwald, et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update.  Int J Cancer 2006; 118(9):2281-4. Narod SA, et al. Oral contraceptives and the risk of hereditary ovarian cancer." N Engl J Med. 1998;339:424-428.
  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. J Exper Clin Cancer Res. 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. N Engl J Med. 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. 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. Intl J of Cancer. 2004;109:680-4
  62. Boland, CR. Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer. 2005;4:211-218.
  63. Chen S. Q&A: Lynch syndrome prediction model. Public Health News Center, Johns Hopkins Bloomburg School of Public Health. www.jhsph.edu/publichealthnews/articles/2006/chen_mmrpro.html. Updated September 26, 2006. Accessed November 2008.
  64. Syngal S, Weeks JC, Schrag D, et al. Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations. Ann Intern Med. 1998;129:787-796.
  65. Schmeler KM, Lynch HT, Chen L, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354:261-269.
  66. Dominguez FJ, Jones JL, Zabicki K, et al. Prevalence of hereditary breast/ovarian carcinoma risk in patients with a personal history of breast or ovarian carcinoma in a mammography population. Cancer. 2005;104(9):1849-1853.
  67. Shannon KM, Lubratovich ML, Finkelstein DM, et al. Model-based predictions of BRCA1/2 mutation status in breast carcinoma patients treated at an academic medical center. Cancer. 2002;94:305-313.
  68. Antoniou A, Pharoah PDP, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117-1130.
  69. Ries LAG, Eisner MP, Kosary CL, Hankley BF, Miller BA, Clegg L, Edwards BK (eds). SEER Cancer Statistics Review, 1973-1999, National Cancer Institute. Bethesda, MD, http://seer.cancer.gov/csr/1973_1999/. Accessed December 30, 2002.
  70. Bishop DT, Demenais F, Goldstein AM, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002;94(12):894-903.
  71. Vasen HF, Gruis NA, Frants RR, van Der Velden PA, Hille ET, Bergman W. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer. 2000;87(6):809-811.
  72. Familial Cancer 2005;4239-44.
  73. Clinical Gastroenterology and Hepatology 2004;2:813-19.
  74. Puig S, et al. Role of the CDKN2A locus in patients with multiple primary melanomas. J Clin Oncol. 2005;23(13):3043-51.
  75. Kefford RF, et al. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium. J Clin Oncol. 1999;17(10):3245-51.
  76. Robinson JK, et al. Predictors of skin self-examination performance. Cancer. 2002;95(1):135-46.
  77. Hansen CB, et al. Clinical germline genetic testing for melanoma. Lancet Oncol. 2004;5(5):314-9.
  78. Brentnall T, et al. Management strategies for patients with hereditary pancreatic cancer. Curr Treat Options Oncol. 2005;6(5):437-45.
  79. Canto M, et al. Screening for early pancreatic neoplasia in high-risk individuals: A prospective controlled study. Clin Gastroenterol Hepatol. 2006;4(6):766-81.
  80. Parker J, et al. Pancreatic carcinoma surveillance in patients with familial melanoma. Arch Dermatol. 2003;139(8):1019-25.
  81. Aspinwall LG, Leaf SL, Dola ER, Kohlmann W, Leachman SA. CDKN2A/p16 genetic test reporting improves early detection intentions and practices in high-risk melanoma families. Cancer Epidemiol Biomarkers Prev. 2008 Jun;17(6):1510-9.
  82. Santillan AA, Cherpelis BS, Glass LF, Sondak VK. Management of familial melanoma and nonmelanoma skin cancer syndromes. Surg Oncol Clin N Am. 2009 Jan;18(1):73-98, viii.
  83. Schmeler KM, Lv KH. Gynecologic Cancers Associated with Lynch Syndrome/HNPCC. Clin Trans/Oncol. 2008 Jun; 10(6): 313-7.
  84. Grover S, Syngal S. Risk Assessment, Genetic Testing and Management of Lynch Syndrome. JNCCN. 2010 Jan; 8(1): 98-105.
  85. Pat T, et al. BRCA1 and BRCA2 mutations account for a large proportion  of ovarian carcinoma cases.  Cancer 2005;104(12):2807-2816.
  86. Risch H, et al. Prevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer Am. J. Hum. Genet. 2001: 68:700-710.
  87. NCCN recommendations for BRCA1/2 mutation carriers:  http://www.nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf.
  88. Saslow, et al. American cancer society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89
  89. Kauff ND, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. NEJM <2002;346:1609-1615.
  90. Metcalfe K, et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. JCO. 2004;22:2328-35
  91. Jass JR. Colorectal polyposes: From phenotype to diagnosis.
  92. Knudsen AL, Bülow S, Tomlinson I, Möslein G, Heinimann K, Christensen IJ. Attenuated Familial Adenomatous Polyposis (AFAP). Results from an international collaborative study. Colorectal Dis. 2010 Jan 22.
  93. Giardeillo FM, et al. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001. 121: 198-213.
  94. Galiastatos P, et al. Familial Adenomatous Polyposis. Am J Gatroenterology 2006 101 (2):385-98.
  95. Guillén-Ponce C, et al. Biallelic MYH germline mutations as cause of Muir-Torre syndrome. Fam Cancer.2010 Jun;9(2):151-4.
  96. 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.
  97. Aretz S MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer. 2006 Aug 15;119(4):807-14.
  98. Jenkins MA, Croitoru ME, Monga N, Cleary SP, Cotterchio M, Hopper JL, GallingerS. 312-4. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006 Feb;15(2).
  99. Bouguen,G, et. al. Colorectal Adenomatous Polyposis Associated with MYH Mutations: Genotype and Phenotype Characteristics. Dis Colon Rectum. 2007 Oct: 50(10) 1612-1617.
  100. NCCN recommendations for Lynch mutation carriers: www.nccn.org/professionals/physician_gls/PDF/colorectal_screening.pdf
  101. Plaschke J, et al. Lower incidence of colorectal cancer and later stage 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. Journal of Clinical Oncology 2004;22:4486-94.
  102. Ligtenberg MJL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3’ exons of TACSTD1. Nature Genetics 2009(1):112-117.
  103. Kovacs ME, et al. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Human Mutation 2009;30(2):197-203.
  104. Hendriks YM, et al. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology. 2006 Feb;130(2):312-22.
  105. Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. Journal of Clinical Oncology 2000;11:2193-200.
  106. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. Journal of Clinical Oncology 2003;21:1174-9.
  107. Cleary SP, et al. Germline MutY Human Homologue Mutations and Colorectal Cancer: A Multisite Case-Control Study. Gastroenterology 2009: 136(4): 1251-1260.
  108. Burt R, Neklason DW. Genetic testing for inherited colon cancer. Gastroenterology. 2005 May;128(6):1696-716.
  109. Halford SE, Rowan AJ, et al. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol. 2003;162(5):1545-8.
  110. Ratain MJ, Schilsky RL, Conley BA, Egorin MJ.  Pharmacodynamics in cancer therapy. J Clin Oncol. 1990;8(10):1739-1753.
  111. Gamelin E, Delva R, Jacob J, et al. Individual fluorouracil dose adjustment based on pharmacokinetic follow-up compared with conventional dosage: results of a multicenter randomized trial of patients with metastatic colorectal cancer.  J Clin Oncol. 2008;26(13):2099-2105.
  112. Data on file, Myriad Genetic Laboratories, Inc., Salt Lake City, UT.
  113. Gamelin E, Boisdron-Celle M. Dose monitoring of 5-fluorouracil in patients with colorectal or head and neck cancer - status of the art. Crit Rev Oncol Hematol. 1999;30(1):71-79.
  114. de Jonge ME, Huitema ADR, Schellens JHM, et al.  Individualized cancer chemotherapy: strategies and performance of prospective studies on therapuetic drug monitoring with dose adaptation.  Clin Pharmacokinet.  2005;44(2):147-173.
  115. Ploylearmsaeng SA, Fuhr U, Jetter A. How many anticancer chemotherapy with fluorouracil be individualized?  Clin Pharmacokinet. 2006;45:567-592.
  116. Hon YY and Evans WE.  Making TDM work to optimize cancer chemotherapy: a multidisciplinary team approach.  Clin Chem. 1998;44:388-400.
  117. Gamelin EC, Danquechin-Dorval EM, Dumesnil YF, et al.  Relationship between 5-fluorouracil dose-intensity and therapuetic reponse in patients with advanced colorectal cancer receiving 5-FU containing infusional therapy.  Cancer. 1996;77:441-451.
  118. Smith CG, Grady JE, Kupiecki FP.  Blood and urine levels of antitumor agents determined with cell culture methods.  Cancer Res.  1965;25:241-245.
  119. Cohen JL, Brennan PB.  GLC assay for 5-fluorouracil in biological fluids.  J Pharm Sci. 1973;62(4):572-575.
  120. Christophidis N, Mihaly G, Vajda F, Louis W.  Comparison of liquid- and gas-liquid chromatographic assays of 5-fluorouracil in plasma.  Clin Chem.  1979;25(1):83-86.
  121. Beumer JH, Courtney J, Stocker D, et al.  5-Fluorouracil measurement by liquid chromatography/tandem mass spectrometry and stability in human blood and plasma. Clin Colorectal Cancer.  2007;417-419