Hereditary nonpolyposis colorectal cancer (Lynch syndrome) in Argentina: Report from a referral hospital register

Diseases of the Colon and Rectum

Volumn 50, Issue 10, 2007, Pages 1604-1611

  Vaccaro, Carlos A ^a   Bonadeo, Fernando ^a   Roverano, Analía V ^a   Peltomaki, Paivi ^b   Bala, Shashi ^c   Renkonen, Elise ^b   Redal, Maria A ^a   Mocetti, Esteban ^a   Mullen, Eduardo ^a   Ojea Quintana, Guillermo ^a   Benati, Mario L ^a   Rivello, Hernan Garcia ^a   Clark, Mary B ^d   Lynch, Jane F ^d   Lynch, Henry T ^d  

^a HOSPITAL ITALIANO DE BUENOS AIRES   (Argentina)

^b UNIVERSITY OF HELSINKI   (Finland)

^c THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Genetic counseling; Hereditary nonpolyposis colorectal cancer; hMSH2 hMLH1 genes; Lynch syndrome; Register

Indexed keywords

PROTEIN MSH2;

ADOLESCENT; ADULT; AGED; ARTICLE; BREAST CANCER; CANCER INCIDENCE; CODON; COLORECTAL CANCER; ENDOMETRIUM CARCINOMA; EXON; FAMILIAL CANCER; FAMILY STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MUIR TORRE SYNDROME; SEX DIFFERENCE; STOMACH ADENOCARCINOMA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ARGENTINA; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; GENETIC COUNSELING; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PEDIGREE; REFERRAL AND CONSULTATION; REGISTRIES;

EID: 35348826362     PISSN: 00123706     EISSN: 15300358     Source Type: Journal    
DOI: 10.1007/s10350-007-9037-y     Document Type: Article

References (23)

1. Voskuil DW, Vasen H, Kampman E, van't Veer P. Colorectal cancer risk in HNPCC families: development during lifetime and in successive generations. Int J Cancer 1997;72:205-9.
2. Peltomaki P, Vasen H. Mutations associated with HNPCC predisposition: Update of ICG-HNPCC-INSiGHT mutation database. Dis Markers 2004;20:269-76.
3. Wijnen J, de Leeuw W, Vasen H, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999;23:142-4.
4. Lynch HT, Lynch JF. The Lynch syndromes. Curr Opin Oncol 1993;5:687-96.
5. Muir EG, Bell AJ, Barlow KA. Multiple primary carcinomata of the colon, duodenum and larynx associated with kerato-acanthoma of the face. Br J Surg 1967;54:191-5.
6. Torre D. Multiple sebaceous tumors. Arch Dermatol 1968;98:549-51.
7. Zhang YZ, Sheng JQ, Li SR, Zhang H. Clinical phenotype and prevalence of hereditary nonpolyposis colorectal cancer syndrome in Chinese population. World J Gastroenterol 2005;11:1481-8.
8. Rossi BM, Lopes A, Oliveira Ferreira F, et al. hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer. Ann Surg Oncol 2002;9:555-61.
9. Rossi BM, Corvello CM, Epelman M, et al. Hereditary colorectal tumors: routine care and the multidisciplinary therapeutic approach. S Am J Cancer 1997;1:191-7.
10. Ferreira Oliveira F, Ferreira Napoli CC, Rossi BM, et al. Frequency of extra-colonic tumors in hereditary nonpolyposis colorectal cancer (HNPCC) and familial colorectal cancer (FCC) Brazilian families. Fam Cancer 2004;3:41-7.
11. Sarroca C, Peltomaki P, Alfano N, et al. Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch II) in Uruguay. Cancer Genet Cytogenet 2003;142:13-20.
12. Sarroca C, Valle AD, Fresco R, Renkonen R, Peltomaki P, Lynch H. Frequency of hereditary non-polyposis colorectal cancer in Uruguayan patients with colorectal cancer. Clin Genet 2005;68:80-7.
13. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-5.
14. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 1999;116:1453-6.
15. Renkonen E, Zhang Y, Lohi H, et al. Altered expression of MLH1, MSH2 and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol 2003;21:3629-37.
16. Muller W, Burgart LJ, Krause-Paulus R, et al. The reliability of inmunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) - results of an international collaborative study. Fam Cancer 2001;1:87-92.
17. Boland CR, Thibodeau SN, Hamilton SR, et al. National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-57.
18. Church J, Kiringoda R, LaGuardia L. Inherited colorectal cancer registries in the United States: the state of the union. Dis Colon Rectum 2004;47:674-8.
19. Rodriguez-Bigas MA, Lee PH, O'Malley L, et al. Establishment of a hereditary nonpolyposis colorectal cancer registry. Dis Colon Rectum 1996;39:649-53.
20. Fitzgibbons RJ Jr, Lynch HT, Stanislav GV, et al. Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II). Ann Surg 1987;206:289-95.
21. Goecke T, Schulmann K, Engel C, et al. Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J Clin Oncol 2006;24:4285-92.
22. Mangold E, Pagesntecher C, Leister M, et al. A genotype-phenotype correlation in HNPCC: strong predominance of MSH2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 2004;41:567-72.
23. Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005;293:1979-85.