Erratum: Germline mutations in
 MLH1
 ,
 MSH2
 and
 MSH6
 in Korean hereditary non‐polyposis colorectal cancer families

Shin, Yongho; Heo, Seung Chul; Shin, Joo‐Ho; Ku, Ja‐Lok; Yoo, Byong Chul; Kim, Iljin; Park, Jae‐Gahb

doi:10.1002/humu.9307

Cited by 15 publications

(23 citation statements)

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“…13 Another 2 (1.8%) (SNU-HE1 and SNU-HE2) of 113 study patients were newly found to be clinical HNPCC during our study. Mutational screening revealed germline mutation of the MMR genes in 2 (SNU-H33 and SNU-HE1) of these 4 clinical HNPCC patients.…”

Section: Resultsmentioning

confidence: 62%

“…Although our sample size was relatively small, these mutation rates are comparable to the 41.5% (22/53) and 19.8% (22/111) respectively found in clinical HNPCC and s-HNPCC patients identified through Korean CRC probands and registered in the Korean Hereditary Tumor Registry. 13 We did not test the two mutation-negative clinical HNPCC patients (SNU-H24, SNU-HE2) for possible large genomic rearrangements of DNA mismatch repair genes. Further test seems to be required to identify the role of large genomic rearrangements in the pathogenesis of our study patients.…”

Section: Discussionmentioning

confidence: 99%

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Hereditary nonpolyposis colorectal cancer in endometrial cancer patients

Yoon

Shin

et al. 2007

Intl Journal of Cancer

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Endometrial cancer is the second most common cancer in hereditary nonpolyposis colorectal cancer (HNPCC). It has often been overlooked to explore the possibility of HNPCC in endometrial cancer patients. Our study was to investigate how many HNPCC patients existed among endometrial cancer patients. Among patients who underwent hysterectomy for endometrial cancer at Seoul National University Hospital from 1996 to 2004, 113 patients were included, whose family history and clinical data could be obtained and tumor specimens were available for microsatellite instability (MSI) testing and immunohistochemical (IHC) staining of MLH1, MSH2 and MSH6 proteins. There were 4 (3.5%) clinical HNPCC patients fulfilling the Amsterdam criteria II, and 2 (2/ 4, 50%) of them carried MSH2 germline mutations. There were also 8 (7.1%) suspected HNPCC (s-HNPCC) patients fulfilling the revised criteria for s-HNPCC, and one (1/8, 12.5%) of them revealed MLH1 germline mutation. In 101 patients, who were not clinical HNPCC or s-HNPCC, 11 patients showed both MSI-high and loss of expression of MLH1, MSH2 or MSH6 proteins, and 2 (2/11, 18.2%) of them showed MSH6 germline mutations. In 113 patients with endometrial cancer, we could find 5 (4.4%) HNPCC patients with MMR germline mutation and 2 (1.8%) clinical HNPCC patients without identified MMR gene mutation. Family history was critical in detecting 3 HNPCC patients with MMR germline mutation, and MSI testing with IHC staining for MLH1, MSH2 and MSH6 proteins was needed in the diagnosis of 2 HNPCC patients who were not clinical HNPCC or s-HNPCC, especially for MSH6 germline mutation. ' 2007 Wiley-Liss, Inc.Key words: endometrial cancer; hereditary nonpolyposis colorectal cancer (HNPCC); microsatellite instability (MSI); mismatch repair gene (MMR); MLH1; MSH2; MSH6The incidence of endometrial cancer has been increasing significantly among general population in Korea over the past decades. 1 According to data on cancer incidence between 1999 and 2001 from the Korea Central Cancer Registry, the crude incidence rate per year is 3.11 cases per 100,000 Korean females.2 In a total of 43,627 new cases of female cancer registered by the Korea Central Cancer Registry in 2002, 825 cases were endometrial cancers, accounting for 1.9% of all malignancies in female. 3Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease characterized by high incidence of colorectal cancer (CRC), endometrial cancer and/or a variety of other cancers. 4 Defective DNA mismatch repair (MMR) process is caused by germline mutations in the MMR genes, leading to the development of HNPCC. Germline mutations have been identified in five of these genes, MSH2, MLH1, PMS1, PMS2 and MSH6, and mutations in MSH2, MLH1 and MSH6 appear to account for the MMR defects seen in the majority of HNPCC families. 5Endometrial cancer is the second most common cancer found in HNPCC families. 6 The lifetime risk of endometrial cancer for women with HNPCC is reported 40-60%, which is the same or greater than that o...

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Section: Resultsmentioning

confidence: 62%

Section: Discussionmentioning

confidence: 99%

Hereditary nonpolyposis colorectal cancer in endometrial cancer patients

Yoon

Shin

et al. 2007

Intl Journal of Cancer

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“…The c.2252_2253delAA mutation has previously been reported in the InSiGHT LOVD database (http://www.insight-group.org/variants/database/) in a Korean family [35][36][37], a Danish family [38], and in three other occurrences as unpublished data from the UK, Germany and Australia. No details about families nor tumour tissue analysis are available.…”

Section: Discussionmentioning

confidence: 84%

A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns

et al. 2014

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The MLH1 c.2252_2253delAA mutation was\ud found in 11 unrelated families from a restricted area southwest\ud of Turin among 140 families with mutations in the\ud mismatch repair genes. The mutation is located in the highly\ud conserved C-terminal region, responsible for dimerization\ud with the PMS2 protein. Twenty-five tumour tissues from 61\ud individuals with the c.2252_2253delAA mutation were tested\ud for microsatellite instability(MSI) and protein expression.We\ud compared the clinical features of these families versus the rest\ud of our cohort and screened for a founder effect. All but one\ud tumours showed the MSI-high mutator phenotype. Normal,\ud focal and lack of MLH1 staining were observed in 16, 36 and\ud 48 % of tumours, respectively. PMS2 expression was always\ud lost. The mutation co-segregated with Lynch syndrome-related\ud cancers in all informative families. All families but one\ud fulfilled Amsterdam criteria, a frequency higher than in other\ud MLH1 mutants. This was even more evident for AC II (72.7\ud vs. 57.5 %). Moreover, all families had at least one colon\ud cancer diagnosed before 50 years and one case with multiple\ud Lynch syndrome-related tumours. Interestingly, a statistically\ud significant (p = 0.0057) higher frequency of pancreatic\ud tumourswas observed compared to familieswith other MLH1\ud mutations: 8.2 % of affected individuals versus 1.6 %. Haplotype\ud analysis demonstrated a common ancestral origin of the\ud mutation, which originated about 1,550 years ago. The\ud mutation is currently classified as having an uncertain clinical\ud significance. Clinical features, tissue analysis and co-segregation\ud with disease strongly support the hypothesis that the\ud MLH1 c.2252_2253delAA mutation has a pathogenic effec

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“…There are also some other studies that have found more mutations in the hMLH1 gene. For example, studies on the Colombian and Korean HNPCC families demonstrated the greater number of germline mutations in hMLH1 [26,27]. In a study in the USA, it is reported that point mutations in the hMLH1 gene are much more frequent than in other MMR genes [28].…”

Section: Discussionmentioning

confidence: 96%

Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients

et al. 2011

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Hereditary non-polyposis colorectal cancer (HNPCC) is one of the most common forms of hereditary colorectal cancer. It is an autosomal dominant disorder resulting from germline mutations in DNA mismatch repair genes. In this study, we screened hMLH1 gene in a group of Iranian HNPCC patients using polymerase chain reaction-single strand conformational polymorphism and direct sequencing methods. Here we report two novel frameshift mutations in this gene in our studied population. One of them results from a deletion of "T" at codon 36, exon 1 which causes premature stop codon and a truncated protein. The other results from a deletion of "T" at codon 753, exon 19 causing a delayed stop codon. There are a variety of the reported novel mutations in hMLH1 gene studies. Identification of these mutations is necessary in different populations and can help the management of colorectal cancer in these populations by screening, by prevention strategies, and by following up the suspected HNPCC families.

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Erratum: Germline mutations in MLH1 , MSH2 and MSH6 in Korean hereditary non‐polyposis colorectal cancer families

Cited by 15 publications

References 0 publications

Hereditary nonpolyposis colorectal cancer in endometrial cancer patients

Hereditary nonpolyposis colorectal cancer in endometrial cancer patients

A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns

Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients

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