참고문헌
- Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ. Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med 1966;117:206-12. https://doi.org/10.1001/archinte.1966.03870080050009
- Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;75:1027-38. https://doi.org/10.1016/0092-8674(93)90546-3
- Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, et al. Mutation of a mutL homolog in hereditary colon cancer. 1994;263:1625-9. https://doi.org/10.1126/science.8128251
- Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, et al. Cancer risk in mutation carriers of DNA-mismatchrepair genes. Int J Cancer 1999;81:214-8. https://doi.org/10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L
- Stoffel E, Mukherjee B, Raymond VM, Tayob N, Kastrinos F, Sparr J, et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 2009;137:1621-7. https://doi.org/10.1053/j.gastro.2009.07.039
- Nummela P, Saarinen L, Thiel A, Jarvinen P, Lehtonen R, Lepisto A, et al. Genomic profile of pseudomyxoma peritonei analyzed using next-generation sequencing and immunohistochemistry. Int J Cancer 2015;136:E282-9. https://doi.org/10.1002/ijc.29245
- PolyPhen-2 (Polymorphism Phenotyping v2) program. [http://genetics.bwh.harvard.edu/pph2/]
- Sorting Intolerant from Tolerant (SIFT) program. [http://sift-dna.org]
- Align-GVGD program. [http://agvgd.iarc.fr/]
- Smeenk RM, van Velthuysen ML, Verwaal VJ, Zoetmulder FA. Appendiceal neoplasms and pseudomyxoma peritonei: a population based study. Eur J Surg Oncol 2008;34:196-201. https://doi.org/10.1016/j.ejso.2007.04.002
- Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, Porteous ME, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006;354:2751-63. https://doi.org/10.1056/NEJMoa053493
- Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, et al; IARC Unclassified Genetic Variants Working Group. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008;29:1282-91. https://doi.org/10.1002/humu.20880
- Chan PA, Duraisamy S, Miller PJ, Newell JA, McBride C, Bond JP, et al. Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). Hum Mutat 2007;28:683-93. https://doi.org/10.1002/humu.20492