Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: Role in presurgical management

Annals of Surgery

Volumn 245, Issue 4, 2007, Pages 560-565

  Guillem, Jose G ^a   Glogowski, Emily ^a   Moore, Harvey G ^a   Nafa, Khedoudja ^a   Markowitz, Arnold J ^a   Shia, Jinru ^a   Offit, Kenneth ^a   Ellis, Nathan A ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2;

ADULT; AGED; AMPLICON; ANAMNESIS; ARTICLE; CANCER RISK; CHROMATOGRAPHY; COLON RESECTION; COLORECTAL CANCER; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HETERODUPLEX ANALYSIS; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PREOPERATIVE EVALUATION; PRIORITY JOURNAL; RISK ASSESSMENT;

ADULT; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; EUROPE, EASTERN; FEMALE; HUMANS; JEWS; MALE; MICROSATELLITE INSTABILITY; MUTS HOMOLOG 2 PROTEIN; PEDIGREE; PROSPECTIVE STUDIES;

EID: 34147129607     PISSN: 00034932     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.sla.0000252589.26244.d4     Document Type: Article

References (32)

1. Guillem JG, Smith AJ, Puig-La Calle J, et al. Gastrointestinal polyposis syndromes. Curr Probl Surg. 1999;36:217-324.
2. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 1993;75:1027-1038.
3. Bronner CE, Baker SM, Morrison PT, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 1994;368:258-261.
4. Akiyama Y, Sato H, Yamada T, et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res. 1997;57:3920-3923.
5. Miyaki M, Konishi M, Tanaka K, et al. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet. 1997;17:271-272.
6. Barchana M, Lipshitz I, Rozen P. Trends in colorectal cancer incidence and mortality in the Israeli Jewish ethnic population. Fam Cancer. 2004;3:207-214.
7. Thomas MG, Weale ME, Jones AL, et al. Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors. Am J Human Genet. 2002;70:1411-1420.
8. Behar DM, Garrigan D, Kaplan ME, et al. Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations. Hum Genet. 2004;114:354-365.
9. Moisio AL, Sistonen P, Weissenbach J, et al. Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet. 1996;59:1243-1251.
10. Nystrom-Lahti M, Kristo P, Nicolaides NC, et al. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med. 1995;1:1203-1206.
11. Spirio L, Green J, Robertson J, et al. The identical 5′ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect. Hum Genet. 1999;105:388-398.
12. Salvaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2000;18:2193-2200.
13. Hutter P, Courturier A, Scott RJ, et al. Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. J Med Genet. 1996;33:636-640.
14. Chan TL, Wai Chan Y, Ho JW, et al. MSH2 c. 1452-1455de1AATG is a founder mutation and an important cause of Hereditary Nonpolyposis Colorectal Cancer in the southern Chinese population. Am J Hum Genet. 2004;74:1035-1042.
15. Lipkin SM, Rozek LS, Rennert G, et al. The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Nat Genet. 2004;36:694-699.
16. Lynch HT, Coronel SM, Okimoto R, et al. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA. 2004;291:718-724.
17. Foulkes WD, Thiffault I, Gruber SB, et al. The founder mutation MSH*1906G→C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am Hum Genet. 2002;71:1395-1412.
18. Zauber NP, Sabbath-Solitare M, Marotta S, et al. Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms. Cancer. 2005;104:719-729.
19. Guillem JG, Rapaport BS, Kirchhoff T, et al. A636P is associated with early-onset colon cancer in Ashkenazi Jews. J Am Coll Surg. 2003;196:222-225.
20. Vasen HF, Mecklin JP, Khan PM, et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424-425.
21. Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116:1453-1456.
22. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261-268.
23. Peterlongo P, Nafa K, Lerman GS, et al. MSH6 germline mutations are rare in colorectal cancer families. Int J Cancer. 2003;107:571-579.
24. Shia J, Klimstra D, Nafa K, et al. Value of immunohistochemical detection of DNA mismatch repair gene proteins in predicting germline mutation in hereditary colorectal neoplasms. Am J Surg Pathol. 2005;29:96-104.
25. Weitzel JN, McCaffrey SM, Nedelcu R, et al. Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg. 2003;138:1323-1328.
26. Schwartz MD, Lerman C, Brogan B, et al. Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol. 2004;22:1823-1829.
27. Guillem JG, Wood WC, Moley J, et al. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol. 2006;24:4642-4660.
28. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348:919-932.
29. Church J, Simmang C. Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Dis Colon Rectum. 2003;46:1001-1012.
30. Lynch HT, Lynch J. Lynch syndrome: genetics, natural history, genetic counseling, and prevention. J Clin Oncol. 2000;18(suppl 21):19-31.
31. Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354:261-269.
32. Ardern-Jones A, Kenen R, Eeles R. Too much, too soon? Patients and health professionals' view concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40. Eur J Cancer Care. 2005;14:272-281.