Bibliography

Non-Polyposis Syndromes

Lynch syndrome

1. Lynch HT, Boland CR, Rodriguez-Bigas MA, Amos C, Lynch JF, Lynch PM. Who should be sent for genetic testing in hereditary colorectal cancer syndromes? J Clin Oncol 2007;25:3534-42.
2. Lynch HT, Smyrk TC, Watson P, Lanspa SJ, Lynch JF, Lynch PM, Cavalieri RJ, Boland CR. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology 1993;104:1535-49.
3. Jass JR, Stewart SM. Evolution of hereditary non-polyposis colorectal cancer. Gut 1992;33:783-6.
4. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999;36:801-18.
5. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003;348:919-32.
6. Gruber SB. New developments in Lynch syndrome (hereditary nonpolyposis colorectal cancer) and mismatch repair gene testing. Gastroenterology 2006;130:577-87.
7. Vasen HF, Stormorken A, Menko FH, Nagengast FM, Kleibeuker JH, Griffioen G, Taal BG, Moller P, Wijnen JT. MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 2001;19:4074-80.
8. Kruger S, Bier A, Engel C, Mangold E, Pagenstecher C, von Knebel Doeberitz M, Holinski-Feder E, Moeslein G, Schulmann K, Plaschke J, Ruschoff J, Schackert HK. The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC). J Med Genet 2005;42:769-73.
9. Campbell PT, Edwards L, McLaughlin JR, Green J, Younghusband HB, Woods MO. Cytochrome P450 17A1 and catechol O-methyltransferase polymorphisms and age at Lynch syndrome colon cancer onset in Newfoundland. Clin Cancer Res 2007;13:3783-8.
10. Kruse R, Rutten A, Lamberti C, Hosseiny-Malayeri HR, Wang Y, Ruelfs C, Jungck M, Mathiak M, Ruzicka T, Hartschuh W, Bisceglia M, Friedl W, Propping P. Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet 1998;63:63-70.
11. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B, et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995;332:839-47.
12. Beck NE, Tomlinson IP, Homfray T, Hodgson SV, Harocopos CJ, Bodmer WF. Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled. Br J Surg 1997;84:233-7.
13. Chung DC, Rustgi AK. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med 2003;138:560-70.
14. Kolodner RD, Tytell JD, Schmeits JL, Kane MF, Gupta RD, Weger J, Wahlberg S, Fox EA, Peel D, Ziogas A, Garber JE, Syngal S, Anton-Culver H, Li FP. Germ-line msh6 Mutations in Colorectal Cancer. Cancer Res 1999;59:5068-5074.
15. Nakagawa H, Lockman JC, Frankel WL, Hampel H, Steenblock K, Burgart LJ, Thibodeau SN, de la Chapelle A. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res 2004;64:4721-7.
16. Casey G, Lindor NM, Papadopoulos N, Thibodeau SN, Moskow J, Steelman S, Buzin CH, Sommer SS, Collins CE, Butz M, Aronson M, Gallinger S, Barker MA, Young JP, Jass JR, Hopper JL, Diep A, Bapat B, Salem M, Seminara D, Haile R. Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. Jama 2005;293:799-809.
17. Fishel R. Signaling mismatch repair in cancer. Nature Medicine 1999;5:1239-1241.
18. Llor X, Pons E, Xicola RM, Castells A, Alenda C, Pinol V, Andreu M, Castellvi-Bel S, Paya A, Jover R, Bessa X, Giros A, Roca A, Gassull MA. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin Cancer Res 2005;11:7304-10.
19. Kambara T, Simms LA, Whitehall VL, Spring KJ, Wynter CV, Walsh MD, Barker MA, Arnold S, McGivern A, Matsubara N, Tanaka N, Higuchi T, Young J, Jass JR, Leggett BA. BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum. Gut 2004;53:1137-44.
20. Domingo E, Laiho P, Ollikainen M, Pinto M, Wang L, French AJ, Westra J, Frebourg T, Espin E, Armengol M, Hamelin R, Yamamoto H, Hofstra RM, Seruca R, Lindblom A, Peltomaki P, Thibodeau SN, Aaltonen LA, Schwartz S, Jr. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 2004;41:664-8.
21. Bessa X, Ballesté B, Castells A, Bellosillo B, Balaguer F, Castellví-Bel S, Paya A, Jover R, Alenda C, Titó L, Martinez-Villacampa M, Vilella A, Xicola RM, Pons E, Llor X, Andreu M. BRAF mutational analysis improves efficacy and efficiency of Lynch syndrome screening: a prospective, multicenter, population-based study. Clinical Gastroenterol Hepatol 2007.
22. Marcus VA, Madlensky L, Gryfe R, Kim H, So K, Millar A, Temple LKF, Hsieh E, Hiruki T, Narod S, Bapat BV, Gallinger S, Redston M. Immunohistochemistry for hMLH1 and hMSH2: A Practical Test for DNA Mismatch Repair-Decicient Tumors. Am J Surg Pathol 1999;23:1248-1255.

 

• Healthcare Providers
• Syndromes
• Referring a Patient