Colorectal and Extracolonic cancer variations in MLH1/MSH2 Hereditary nonpolyposis colorectal cancer kindreds and the general population

Diseases of the Colon and Rectum

Volumn 41, Issue 4, 1998, Pages 428-433

  Lin, Kevin M ^a   Shashidharan, M ^a   Ternent, Charles A ^a,b   Thorson, Alan G ^a   Blatchford, Garnet J ^a   Christensen, Mark A ^a   Lanspa, Stephen J ^a   Lemon, Stephen J ^a   Watson, Patrice ^a   Lynch, Henry T ^a  

^a CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CREIGHTON UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Extracolonic cancer; Genotype phenotype; Germline mutation; Hereditary colorectal cancer; Mismatch repair gene

Indexed keywords

ADULT; ARTICLE; CANCER EPIDEMIOLOGY; CANCER SCREENING; CANCER STAGING; CANCER SURVIVAL; COLORECTAL CANCER; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; FAMILIAL COLON POLYPOSIS; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; RECTUM CANCER;

ADULT; AGE OF ONSET; AGED; CARRIER PROTEINS; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; DNA-BINDING PROTEINS; FEMALE; GENOTYPE; GERM-LINE MUTATION; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NEOPLASM STAGING; NEOPLASMS; NEOPLASMS, MULTIPLE PRIMARY; NEOPLASMS, SECOND PRIMARY; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS; STATISTICS; SURVIVAL RATE;

EID: 0031893095     PISSN: 00123706     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02235755     Document Type: Article

References (25)

1. Bellacosa A, Genuardi M, Anti M, Viel A, Ponz-de-Leon M. Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. Am J Med Genet 1996;62:353-64.
2. Marra G, Boland CR. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst 1995;87:1114-25.
3. Mecklin JP, Jarvinen HJ, Hakkiluoto A, et al. Frequency of hereditary nonpolyposis colorectal cancer: a prospective multicenter study in Finland. Dis Colon Rectum 1995;38:588-93.
4. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome): an updated review. Cancer 1996;78:1149-67.
5. Tomoda H, Baba H, Oshiro T. Clinical manifestations in patients with hereditary nonpolyposis colorectal cancer. J Surg Oncol 1996;61:262-6.
6. D'Emilia JC, Rodriguez-Bigas MA, Petrelli NJ. The clinical and genetic manifestations of hereditary nonpolyposis colorectal carcinoma. Am J Surg 1995;169: 368-72.
7. Luce MC, Binnie CG, Cayouette MC, Kam-Morgan LN. Identification od DNA mismatch repair gene mutations in hereditary nonpolyposis colon cancer. Int J Cancer 1996;69:50-2.
8. Wijnen J, Khan PM, Vasen H, et al. Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. Am J Hum Genet 1996;58:300-7.
9. Rhyu M. Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma. J Natl Cancer Inst 1996;88:240-51.
10. Piepoli A, Santoro R, Cristofaro G, et al. Linkage analysis identifies gene carriers among members of families with hereditary nonpolyposis colorectal cancer. Gastroenterology 1996;110:1404-9.
11. Wijnen J, Vasen H, Khan PM, et al. Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am J Hum Genet 1995;56:1060-6.
12. Kolodner RD, Hall NR, Lipford J, et al. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics 1994;24: 516-26.
13. Horii A, Han HJ, Sasaki S, Shimada M, Nakamura Y. Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. Biochem Biophys Res Commun 1994;204:1257-64.
14. Nystrom-Lahti M, Parsons R, Sistonen P, et al. Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage. Am J Hum Genet 1994;55:659-65.
15. Liu B, Parsons RE, Hamilton SR, et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res 1994;54:4590-4.
16. Papadopoulos N, Nicolaides NC, Wei YF, et al. Mutation of a mutL homolog in hereditary colon cancer. Science 1994;263:1625-9.
17. Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M, Jarvinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 1995;64:430-3.
18. Vasen H, Wijnen J, Menko F, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996;110:1020-7.
19. Risinger JI, Barrett JC, Watson P, Lynch HT, Boyd J. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer 1996;77:1836-43.
20. Sumoi R, Hakala-Ala-Pietila T, Leminen A, Mecklin JP, Lehtovirta P. Hereditary aspects of endometrial adenocarcinoma. Int J Cancer 1995;62:132-7.
21. Watson P, Vasen HF, Mecklin JP, Jarvinen H, Lynch HT. The risk of endometrial cancer in hereditary nonpolyposis colorectal cancer. Am J Med 1994;96:516-20.
22. Lin KM, Shashidharan M, Ternent CA, et al. Cumulative incidence of metachronous colorectal cancer in hereditary nonpolyposis colorectal cancer (HNPCC) kindreds [meeting abstract]. Dis Colon Rectum 1997;40:A35.
23. Cali RL, Pitsch RM, Thorson AG, et al. Cumulative incidence of metachronous colorectal cancer. Dis Colon Rectum 1993;36:388-393.
24. Sankila R, Aaltonen LA, Jarvinen HJ, Mecklin JP. Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology 1996;110: 682-7.
25. Watson P, Lin KM, Rodriguez-Bigas MA, et al. Colorectal cancer survival in hereditary nonpolyposis colorectal cancer family members. Cancer (in press).