Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

The Ohio State University, Columbus, Ohio, United States
Cancer Research (Impact Factor: 9.33). 11/2007; 67(19):9603. DOI: 10.1158/0008-5472.CAN-07-2308
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Available from: Albert de la chapelle, Apr 22, 2015
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    • "We found normal IHC expression of MMR proteins together with MSI in 3/61 cases (4.9%). Similar results were obtained by Hampel et al. 2006 (6.3%, 6/96) [13]. Moreover, we found that about 23% (14/61) "
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    ABSTRACT: Lynch syndrome (LS) is a hereditary condition that increases the risk for endometrial and other cancers. The identification of endometrial cancer (EC) patients with LS has the potential to influence life-saving interventions. We aimed to study the prevalence of LS among EC patients in our population. Universal screening for LS was applied for a consecutive series EC. Tumor testing using microsatellite instability (MSI), immunohistochemistry (IHC) for mismatch-repair (MMR) protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases. Sequencing of corresponding MMR genes was performed. One hundred and seventy-three EC (average age, 63 years) were screened. Sixty-one patients (35%) had abnormal IHC or MSI results. After MLH1 methylation analysis, 27 cases were considered suspicious of LS. From these, 22 were contacted and referred for genetic counseling. Nineteen pursued genetic testing and eight were diagnosed of LS. Mutations were more frequent in younger patients (<50 yrs). Three cases had either intact IHC or MSS and reinforce the need of implement the EC screening with both techniques. The prevalence of LS among EC patients was 4.6% (8/173); with a predictive frequency of 6.6% in the Spanish population. Universal screening of EC for LS is recommended.
    PLoS ONE 11/2013; 8(11):e79737. DOI:10.1371/journal.pone.0079737 · 3.23 Impact Factor
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    • "However, others [16] have found the mean age in a prospective unselected cohort to be 54 years. If an age cut-off of 50 years old had been selected instead for LS screening, 60% of patients would have been missed [17]. In fact, others have described that 25% of LS patients do not fit standard screening criteria, such as the Amsterdam, Bethesda, and SGO criteria, where age is a prominent factor (cut-off age 50) [18]. "
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    ABSTRACT: Lynch syndrome (LS), an autosomal dominant inherited cancer susceptibility syndrome, also known as hereditary non-polyposis colon cancer (HNPCC), is caused by a germline mutation in one of several DNA mismatch repair (MMR) genes. LS is the most common presentation of hereditary colorectal cancer (CRC), accounting for about 2--5% of all CRC cases. More recently, it is found that a similar number of endometrial cancers is also due to one of the MMR gene mutations. There has been significant progress in LS-related CRC in terms of molecular pathogenesis, risks, genetic basis, and cancer prevention. In contrast, the advance about LS-related endometrial cancer (EC) is very much limited. In this commentary, we summarize the main clinicopathologic features of LS-related EC and propose universal screening for LS in individuals with endometrial cancer.
    Journal of Hematology & Oncology 03/2013; 6(1):22. DOI:10.1186/1756-8722-6-22 · 4.81 Impact Factor
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    ABSTRACT: Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), Cowden syndrome (CS), and Peutz-Jeghers syndrome (PJS) are hereditary diseases with an increased risk for endometrial cancer. Lynch syndrome is the most frequent disease associated with hereditary endometrial cancer. Lynch syndrome is autosomal dominant disorder caused by germ-cell mutation of DNA mismatch repair genes. Patients with Lynch syndrome have a higher risk of endometrial cancer compared with the general population. Thus, these patients and their families may develop malignant tumors, including colon and endometrial cancers. The lifetime risk of endometrial cancer in females with Lynch syndrome is particularly high (28-60 %). Lynch syndrome is a typical hereditary tumor associated with endometrial cancer, and elucidation of the oncogenic mechanism is important to understand the characteristics of endometrial cancer, including sporadic endometrial cancer. The Amsterdam II Criteria are used for screening for Lynch syndrome, but some cases of hereditary endometrial cancer do not meet these criteria (masked Lynch syndrome); therefore, patients with a suspected hereditary predisposition, including juvenile-onset and double cancer, should undergo genetic tests in addition to taking of a family history.
    03/2012; 2(1). DOI:10.1007/s13669-012-0029-0
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