Lower Cancer Incidence in Amsterdam-I Criteria Families Without Mismatch Repair Deficiency
نویسندگان
چکیده
منابع مشابه
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X.
CONTEXT Approximately 60% of families that meet the Amsterdam-I criteria (AC-I) for hereditary nonpolyposis colorectal cancer (HNPCC) have a hereditary abnormality in a DNA mismatch repair (MMR) gene. Cancer incidence in AC-I families with MMR gene mutations is reported to be very high, but cancer incidence for individuals in AC-I families with no evidence of an MMR defect is unknown. OBJECTI...
متن کاملMismatch repair deficiency in colorectal cancer patients in a low-incidence area.
BACKGROUND In a previous study we identified 206 patients with colorectal adenocarcinoma in the Northern Cape province of South Africa, diagnosed between January 2002 and February 2009. The age-standardised incidence was 4.2/100 000 per year world standard population. This is 10% of the rate reported in First-World countries. In high-incidence areas, the rate of abnormal mismatch repair gene ex...
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We read the recent publications of Ychou et al. [1, 2] on ‘adjuvant’ irinotecan-based chemotherapy in high-risk localized colorectal cancer (CRC) and after resection of liver-confined metastatic disease with great interest. In contrast to the improved outcome provided by oxaliplatin-based adjuvant treatment of early-stage disease, there is now a body of evidence showing that the addition of iri...
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The mismatch repair (MMR) machinery contributes to genome integrity and the MLH1, MSH2, MSH6 and PMS2 genes play a crucial role in this process. MMR corrects single base-pair mismatches and small insertion-deletion loops that arise during replication. Moreover, the MMR system is involved in the cellular response to a variety of agents that damage DNA and in immunoglobulin class switch recombina...
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Colorectal carcinoma (CRC) is an extremely rare tumor of childhood that can be associated with cancer predisposition syndromes. A patient with CRC related to constitutional mismatch repair deficiency (CMMRD) syndrome with features of neurofibromatosis type 1 (NF-1) is presented here. A 13-year-old boy was admitted for a 4-month history of diarrhea and rectal bleeding. The patient had extensive ...
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ژورنال
عنوان ژورنال: JAMA
سال: 2005
ISSN: 0098-7484
DOI: 10.1001/jama.293.16.1979