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MLH1; mutL homolog 1 (3p21.3)

Gene Summary

Gene:MLH1; mutL homolog 1
Aliases: FCC2, COCA2, HNPCC, hMLH1, HNPCC2
Location:3p21.3
Summary:This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]
Databases:OMIM, VEGA, HGNC, Ensembl, GeneCard, Gene
Protein:DNA mismatch repair protein Mlh1
HPRD
Source:NCBI
Updated:06 January, 2015

Gene
Ontology:

What does this gene/protein do?
Show (34)

Pathways:

What pathways are this gene/protein implicaed in?
- Colorectal cancer KEGG
Data from KEGG and BioCarta [BIOCARTA terms] via CGAP

Cancer Overview

Research Indicators

Publications Per Year (1990-2015)
Graph generated 06 January 2015 using data from PubMed using criteria.

Literature Analysis

Mouse over the terms for more detail; many indicate links which you can click for dedicated pages about the topic.

  • Young Adult
  • MLH1
  • beta Catenin
  • Risk Assessment
  • Transcription Factors
  • Poly(ADP-ribose) Polymerases
  • Societies, Medical
  • Risk Factors
  • Colorectal Cancer
  • Sex Factors
  • DNA Repair Enzymes
  • Suppressor of Cytokine Signaling Proteins
  • DNA-Binding Proteins
  • DNA Mismatch Repair
  • Xenograft Models
  • Tumor Markers
  • Tumor Suppressor Proteins
  • Mutation
  • ras Proteins
  • DNA Methylation
  • RNA Splice Sites
  • Uterine Cancer
  • Turcot Syndrome
  • Microsatellite Instability
  • Protein Stability
  • Structural Homology, Protein
  • Oxidative Stress
  • Radiation-Induced Cancer
  • Immunohistochemistry
  • Genetic Predisposition
  • Spain
  • Pedigree
  • Signal Transducing Adaptor Proteins
  • BRAF
  • Sensitivity and Specificity
  • Survival Rate
  • Urinary System Cancers
  • Urogenital System
  • Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
  • X-Ray Computed Tomography
  • Chromosome 3
  • Western Australia
  • Lynch Syndrome II
Tag cloud generated 06 January, 2015 using data from PubMed, MeSH and CancerIndex

Notable (3)

Scope includes mutations and abnormal protein expression.

Entity Topic PubMed Papers
Hereditary Nonpolyposis Colorectal Cancer MLH1 and Lynch Syndrome
See: More details below...
View Publications1070
Lynch Syndrome IILynch Syndrome II
Hereditary nonpolyposis colorectal neoplasms associated with other malignancies, more commonly of ovarian or uterine origin. When also associated with SEBACEOUS GLAND NEOPLASMS, it is called MUIR-TORRE SYNDROME. (Source: MeSH)
See: More details below...
View Publications21
Turcot SyndromeMLH1 mutations in Turcot Syndrome View Publications15

Note: list is not exhaustive. Number of papers are based on searches of PubMed (click on topic title for arbitrary criteria used).

Related Links

MLH1 and Lynch Syndrome


See also: Colorectal (Bowel) Cancer - Clinical and Research information

Latest Publications

Lynch Syndrome II

Hereditary nonpolyposis colorectal neoplasms associated with other malignancies, more commonly of ovarian or uterine origin. When also associated with SEBACEOUS GLAND NEOPLASMS, it is called MUIR-TORRE SYNDROME. (Source: MeSH)

Latest Publications

Lee N, Luthra R, Lopez-Terrada D, et al.
Retroperitoneal undifferentiated pleomorphic sarcoma having microsatellite instability associated with Muir-Torre syndrome: case report and review of literature.
J Cutan Pathol. 2013; 40(8):730-3 [PubMed] Related Publications
Muir-Torre syndrome represents a rare autosomal dominant familial cancer predisposition disorder defined by the occurrence of cutaneous sebaceous tumors and an internal malignancy, most commonly gastrointestinal carcinoma. Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome), including the Muir-Torre syndrome, are associated with microsatellite instability (MSI) and germline mutations in mismatch repair genes-most commonly MLH1 or MSH2. We present a 58-year-old man with Muir-Torre syndrome and a large retroperitoneal mass (14.3 cm in greatest dimension) encompassing the left adrenal gland. Sections showed a cellular malignant tumor composed of spindle cells with a high mitotic index and lacking morphologic evidence of adipocytic differentiation. It was weakly reactive for smooth muscle actin (SMA) and negative for desmin, CD117, CD31, CD34, S100 protein and pan-cytokeratin. Further immunohistochemical analysis revealed intact expression of MLH1 but loss of MSH2 in tumor nuclei. Compared to non-neoplastic tissue, the tumor showed MSI in five of seven dinucleotide markers. Fluorescence in situ hybridization (FISH) failed to reveal 12q15 amplification, effectively excluding dedifferentiated liposarcoma as a diagnostic consideration. This is a rare case of a patient with Muir-Torre syndrome who developed a related high-grade undifferentiated pleomorphic sarcoma as the associated internal malignancy.

Related: Soft Tissue Sarcomas MSH2


Casper M, Weber SN, Kloor M, et al.
Hepatocellular carcinoma as extracolonic manifestation of Lynch syndrome indicates SEC63 as potential target gene in hepatocarcinogenesis.
Scand J Gastroenterol. 2013; 48(3):344-51 [PubMed] Related Publications
OBJECTIVE: Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in DNA mismatch repair (MMR) genes with microsatellite instability (MSI) as its molecular hallmark. Hepatocellular carcinoma (HCC) has not been considered part of the tumor spectrum. The aim was to provide a detailed molecular characterization of an HCC associated with Lynch Syndrome (Muir-Torre variant).
MATERIALS AND METHODS: HCC samples were analyzed for MSI, MMR protein expression and coding microsatellite instability (cMSI). Since cMSI also affected SEC63 coding for an endoplasmic reticulum membrane protein with implications for intracellular protein translocation, its impact on hepatocyte growth control was assessed in an established short-term model. Recombinant inbred mouse lines (BXD) showing different basal SEC63 expression levels were treated with the chemocarcinogen diethylnitrosamine (DEN) intraperitoneally. Proliferation and apoptosis of hepatocytes were determined after 48 h using Ki67 and TUNEL assays.
RESULTS: The HCC was high-grade microsatellite unstable with loss of MSH2 expression. cMSI was detected in four genes (ASTE1, SEC63, TAF1B, TGFBR2). However, only TGFBR2 is known to be involved in hepatocarcinogenesis. When investigating the impact of SEC63 expression on hepatocyte growth control in the murine model, low hepatic expression correlated significantly (p < 0.05) with a decrease in apoptosis and increased proliferative activity.
CONCLUSIONS: For the first time, an HCC with characteristic molecular features of association with Lynch syndrome is described. The pro-carcinogenic growth behavior of hepatocytes with low SEC63 expression in the murine model indicates a potential role for SEC63 in hepatocarcinogenesis in general, but this needs further functional validation.

Related: Apoptosis Liver Cancer MSH6 MSH2


Karamurzin Y, Soslow RA, Garg K
Histologic evaluation of prophylactic hysterectomy and oophorectomy in Lynch syndrome.
Am J Surg Pathol. 2013; 37(4):579-85 [PubMed] Related Publications
Women with Lynch syndrome (LS) are at increased risk for endometrial (EC) and ovarian carcinoma (OC). Current surveillance recommendations for detection of EC and OC in LS patients are not effective. Small studies have shown that prophylactic hysterectomy and bilateral salpingo-oophorectomy (P-TH-BSO) are the most effective and least expensive preventive measures in these patients. Data regarding histologic findings in prophylactic specimens in these patients are lacking. All LS patients who underwent P-TH-BSO at the Memorial Sloan-Kettering Cancer Center from 2000 to 2011 were identified. Slides were evaluated for the presence of endometrial hyperplasia (EH), EC, OC, or any other recurrent histologic findings. Twenty-five patients were identified, with an age range of 36 to 61 years. Fifteen patients had a synchronous or prior colorectal carcinoma, and 2 patients had a history of sebaceous carcinoma. Focal FIGO grade 1 endometrioid ECs were detected in 2 patients; 1 was 54 years of age (MSH2 mutation; superficially invasive), and the other was 56 years of age (MLH1 mutation; noninvasive). Focal complex atypical hyperplasia, unassociated with carcinoma, was seen in 3 patients, ages 35 and 45 (MLH1 mutations) and 53 years (MSH2 mutation). One patient (44 y, with MSH2 mutation) was found to have a mixed endometrioid/clear cell OC and simple EH without atypia. The OC was adherent to the colon but did not show distant metastasis. In our study, P-TH-BSOs performed because of the presence of LS revealed incidental EC and/or EH in 24% of cases and OC in 4%. The ECs were low grade, confined to the endometrium, and seen in patients older than 50 years. Prophylactic hysterectomy allows detection of early lesions in LS; these lesions appear to be small and focal. This small series of prophylactic hysterectomies may provide some clues about LS-associated endometrial carcinogenesis.

Related: Ovarian Cancer MSH2


Yozu M, Symmans P, Dray M, et al.
Muir-Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field.
Virchows Arch. 2013; 462(3):355-60 [PubMed] Related Publications
Muir-Torre syndrome is a variant of Lynch syndrome, characterised by sebaceous neoplasia and/or keratoacanthomas associated with visceral malignancies. Muir-Torre syndrome is caused by germline mutations of one of the mismatch repair genes, frequently MSH2 and less frequently MLH1 and MSH6. Visceral malignancies associated with Muir-Torre syndrome and Lynch syndrome include colorectal, endometrial and other gastrointestinal, urological and gynaecological malignancies. Small numbers of Lynch syndrome-associated soft tissue sarcomas have been reported, but there are no reported cases of soft tissue sarcomas in Muir-Torre syndrome. In this study, we report a 74-year-old man with known Muir-Torre syndrome with confirmed MSH2 germline mutation, diagnosed with pleomorphic liposarcoma of the right buttock in a previous radiation field. The tumour showed loss of expression of MSH2 and MSH6 on immunohistochemistry. Immunohistochemistry on another pleomorphic liposarcoma in a different patient with no previous history of Muir-Torre syndrome or Lynch syndrome showed no loss of expression of mismatch repair proteins. This is the first report of Muir-Torre syndrome-associated sarcoma and the first case of post-radiation sarcoma in Lynch syndrome.

Related: FISH MSH6 MSH2


Skeldon SC, Semotiuk K, Aronson M, et al.
Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.
Eur Urol. 2013; 63(2):379-85 [PubMed] Related Publications
BACKGROUND: Lynch syndrome (LS), or hereditary nonpolyposis colorectal cancer, is caused by mutations in mismatch repair (MMR) genes. An increased risk for upper tract urothelial carcinoma (UTUC) has been described in this population; however, data regarding the risk for bladder cancer (BCa) are sparse.
OBJECTIVE: To assess the risk of BCa in MMR mutation carriers and suggest screening and management recommendations.
DESIGN, SETTING, AND PARTICIPANTS: Cancer data from 1980 to 2007 were obtained from the Familial Gastrointestinal Cancer Registry in Toronto for 321 persons with known MMR mutations: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1); mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2); mutS homolog 6 (E. coli) (MSH6); and PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2).
OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Standardized incidence ratios from the Ontario Cancer Registry, using the Surveillance Epidemiology and End Results public database, were used to compare cancer risk in patients with MMR mutations with the Canadian population. Microsatellite instability analysis and immunohistochemistry (IHC) of the MMR proteins were also performed and the results compared with matched sporadic bladder tumors.
RESULTS AND LIMITATIONS: Eleven of 177 patients with MSH2 mutations (6.21%, p<0.001 compared with the Canadian population) were found to have BCa, compared with 3 of 129 patients with MLH1 mutations (2.32%, p>0.05). Of these 11 tumors, 81.8% lacked expression of MSH2 on IHC, compared with the matched sporadic cases, which all displayed normal expression of MSH2 and MLH1. The incidence of UTUC among MSH2 carriers was 3.95% (p<0.001), and all tumors were found to be deficient in MSH2 expression on IHC. Mutations in the intron 5 splice site and exon 7 of the MSH2 gene increased the risk of urothelial cancer. Limitations include possible inflated risk estimates due to ascertainment bias.
CONCLUSIONS: LS patients with MSH2 mutations are at an increased risk for not only UTUC but also BCa and could be offered appropriate screening.

Related: Transitional Cell Cancer of the Renal Pelvis and Ureter Kidney Cancer Bladder Cancer Bladder Cancer - Molecular Biology MSH2


Kacerovska D, Cerna K, Martinek P, et al.
MSH6 mutation in a family affected by Muir-Torre syndrome.
Am J Dermatopathol. 2012; 34(6):648-52 [PubMed] Related Publications
Muir-Torre syndrome (MTS), a phenotypic variant of the more common hereditary nonpolyposis colorectal cancer syndrome, or Lynch syndrome, is an autosomal dominantly inherited condition that combines at least one cutaneous sebaceous neoplasm and at least one visceral malignancy. Most patients (~90%) with MTS carry mutations in the MSH2 gene; less than 10% of the cases are associated with a mutation MLH1 gene, and only 3 MTS patients with a pathogenic MSH6 mutation have been previously documented. We report a family affected with MTS in which 3 members (father and 2 sons) were found to harbor a missense mutation c.2633T>C (p.V878A) in exon 4 of the MSH6 gene.

Related: MSH6


Kleinerman R, Marino J, Loucas E
Muir-Torre Syndrome / Turcot Syndrome overlap? A patient with sebaceous carcinoma, colon cancer, and a malignant astrocytoma.
Dermatol Online J. 2012; 18(5):3 [PubMed] Related Publications
The Muir-Torre Syndrome is characterized by the clinical constellation of sebaceous neoplasms, keratoacanthomas, and internal malignancies caused by a defect in DNA mismatch repair. Another mismatch repair defect causes Turcot syndrome, which manifests with colorectal and central nervous system neoplasms. We wish to report a case in which the manifestations of both syndromes were observed in the same patient. We further discuss the possible genetic basis for this overlap.

Related: Colorectal (Bowel) Cancer MSH2


Landis MN, Davis CL, Bellus GA, Wolverton SE
Immunosuppression and sebaceous tumors: a confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy.
J Am Acad Dermatol. 2011; 65(5):1054-1058.e1 [PubMed] Related Publications
Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis caused by mutations in the DNA mismatch repair genes MLH1 and MSH2. This case describes a patient with an extensive family history of colon cancer who experienced the onset of multiple sebaceous adenomas and carcinomas after undergoing kidney transplantation and receiving immunosuppressive therapy. The finding of deficient MSH2 expression in the immunohistochemical analysis of a sebaceous carcinoma prompted genetic testing for a systemic mutation in the mismatch repair gene. A systemic mutation of the MSH2 gene was detected and, despite the absence of a visceral malignancy, the diagnosis of MTS was made. Immunosuppression has previously been thought to play a possible role in unmasking a latent MTS phenotype in transplant recipients, but systemic mutations have not previously been analyzed. The relationship between immunosuppression and sebaceous tumors with the possibility of unmasking a MTS phenotype in transplant recipients is discussed.

Related: Skin Cancer MSH2


Guillén-Ponce C, Castillejo A, Barberá VM, et al.
Biallelic MYH germline mutations as cause of Muir-Torre syndrome.
Fam Cancer. 2010; 9(2):151-4 [PubMed] Related Publications
Muir-Torre syndrome is a rare, inherited disease predisposing of gastrointestinal and cutaneous tumours, such as keratoacanthomas and sebaceous gland adenomas. Muir-Torre syndrome is usually inherited in an autosomal dominant fashion and associated with mutations in the mismatch repair genes, predominantly in MLH1 and MSH2 genes. This report describes a man who has multiple adenomatous colon polyps, a gastric cancer, multiple colorectal cancers and sebaceous adenomas caused by biallelic MYH germline mutations. This finding demonstrates that MYH gene analysis should be considered in Muir-Torre families where no mismatch repair gene mutations have been found. Furthermore, this report contributes to characterize the clinical phenotype caused by biallelic mutations in MYH gene, which may share with other hereditary colon cancer syndromes.

Related: Colorectal (Bowel) Cancer


Tanyi M, Olasz J, Lukács G, et al.
A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas.
Eur J Surg Oncol. 2009; 35(10):1128-30 [PubMed] Related Publications
Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) is the most frequent inherited disease which can lead to the development of tumors in the colon and other locations. Its genetic basis is related to the germline mutation of the Mismatch Repair (MMR) genes. Muir-Torre syndrome is considered one of the subtypes of this disease, in which the HNPCC tumor spectrum is frequently associated with sebaceous carcinoma of the skin or keratoacanthoma. A 57 years old male patient is presented with a mucinous carcinoma of the caecum and an adenocarcinoma of the pancreas head. A malignant sebaceous carcinoma was removed from his left neck area. His family history was significant for two cases of colon carcinoma, two cases of stomach cancer and a case of metacron endometrial and skin tumor as well. Both the colon carcinoma and the skin tumor proved to be microsatellite unstable. An Arg>Pro switch missense mutation was found in codon 265 of the hMLH1 gene. This error was found in 4 other members of his family. The detected genetic alteration was considered pathogenic and was not published yet in English literature. The significance of this particular case is the rare tumor association in a patient with Muir-Torre syndrome (MTS). In cases of sebaceous skin lesions, evaluation of family history is of utmost importance in the early detection of HNPCC and in the follow up care of family members with the particular mutation.

Related: Cancer of the Pancreas Pancreatic Cancer


Morales-Burgos A, Sánchez JL, Figueroa LD, et al.
MSH-2 and MLH-1 protein expression in Muir Torre syndrome-related and sporadic sebaceous neoplasms.
P R Health Sci J. 2008; 27(4):322-7 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Muir-Torre Syndrome (MTS) is a rare autosomal-dominant disorder characterized by the predisposition to both sebaceous neoplasm and internal malignancies. MTS-associated sebaceous neoplasms reveal mutations in DNA mismatch repair (MMR) genes and microsatellite instability. A significant part of MTS patients represents a phenotypic variant, the hereditary nonpolyposis colorectal cancer (HNPCC). A strong correlation between microsatellite instability and immunostaining has been demonstrated. The early recognition of sebaceous neoplasm as part of MTS, and their differentiation from sporadic sebaceous neoplasm may have an important application in a clinical setting. The absence of MLH-1 or MSH-2 expression by immunostaining identifies tumors with mismatch repair deficiency.
OBJECTIVES: Our aim is to determine whether an immunohistochemical approach, targeting DNA repair proteins MSH-2 and MLH-1 in MTS-related sebaceous neoplasm and their sporadic counterparts, can be used for their identification.
METHODS: We examined 15 sebaceous neoplasms (including 6 internal malignancy- associated sebaceous neoplasms and 8 sporadic sebaceous neoplasms) from 11 patients for the expression of MSH-2 and MLH-1 by immunohistochemistry.
RESULTS: Four of 5 internal malignancy-associated sebaceous neoplasms showed loss of expression of MSH-2 or MLH-1. Correlation of the immunostaining pattern of the sebaceous neoplasms and the patients' positive history of colon carcinoma was 80%. Seven of 8 sporadic sebaceous neoplasms showed a positive expression of MSH-2 and MLH-1. The prevalence for loss of expression of MMR proteins in sebaceous neoplasms was 38.5%. MMR immunostaining had 87.5% specificity and 80% sensitivity.
LIMITATIONS: This study is limited by a small sample size, and by bias selection due to the use of non nationwide data-base as the resource of cases.
CONCLUSIONS: Our findings demonstrate that immunohistochemical testing for internal malignancy-associated sebaceous neoplasms is a practical approach to confirm a suspected inherited MMR gene defect, and an accurate method to distinguish between sporadic and MTS-associated sebaceous lesions.

Related: MSH2


Hare HH, Mahendraker N, Sarwate S, Tangella K
Muir-Torre syndrome: a rare but important disorder.
Cutis. 2008; 82(4):252-6 [PubMed] Related Publications
Muir-Torre syndrome (MTS) is a rare disorder characterized by the presence of at least one sebaceous gland neoplasm and at least one visceral malignancy. Sebaceous adenomas, sebaceous carcinomas, and sebaceomas (sebaceous epitheliomas) are all characteristic glandular tumors of MTS. The most common visceral malignancies associated with MTS are colorectal, followed by genitourinary. These visceral malignancies frequently have a more indolent course in patients with MTS than they would otherwise. Muir-Torre syndrome is an autosomal dominant disorder; however, sporadic cases are known to develop. It often is associated with germ-line mutations in the mutS homolog 2, colon cancer, nonpolyposis type 1 (Escherichia coli) gene, MSH2, and the mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) gene, MLH1 (similar to hereditary nonpolyposis colon cancer [HNPCC]). The diagnosis of MTS currently is based on clinical criteria; however, immunohistochemical staining for MSH2 and MLH1 can confirm the diagnosis. We report 2 patients with MTS who developed colon adenocarcinomas in conjunction with sebaceous carcinomas. Both patients demonstrated loss of MSH2 expression in tumor cells on immunohistochemical staining. One of these patients later developed gastric carcinoma, a very uncommon malignancy associated with MTS. We conclude that the diagnosis of rare sebaceous lesions associated with MTS may represent a marker of visceral disease and warrants further investigation for internal malignancies in the individual and at-risk family members.


Park DM, Yeaney GA, Hamilton RL, et al.
Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme.
Neuro Oncol. 2009; 11(4):452-5 [PubMed] Free Access to Full Article Related Publications
Patients with Muir-Torre syndrome, an autosomal-dominant familial tumor condition caused by germline mutation of the DNA mismatch repair genes, MSH2 or MLH1, present with tumors of the sebaceous gland and visceral malignancies characterized by microsatellite instability. Here we show development of glioblastoma multiforme in a patient with Muir-Torre syndrome. Immunohistochemical analysis of the brain tumor and colon cancer revealed loss of the DNA mismatch repair gene detected by the genetic test, suggesting a pathogenic link.

Related: MSH2


Murphy HR, Armstrong R, Cairns D, Greenhalgh KL
Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation.
Fam Cancer. 2008; 7(3):255-7 [PubMed] Related Publications
Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2. We draw attention to recent reports of MTS found in association with a constitutional MSH6 mutation and describe a further MTS family with a MSH6 mutation, in whom a preponderance of extra-colonic tumours was found.

Related: MSH2


Archer-Dubon C, Alvarez-Zavala B, Reyes E, Orozco-Topete R
Immunohistochemistry screening of sebaceous lesions for Muir-Torre syndrome in a 26-year period in a Mexican population.
Dermatol Online J. 2008; 14(12):1 [PubMed] Related Publications
Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis defined as the association of rare sebaceous gland skin tumors, keratoacanthomas, and a personal or familial history of malignant visceral tumors. Germline mutations in certain mismatch repair genes (MMR) have been identified in MTS families and their identification is a cornerstone for diagnosis of MTS. We reviewed our series of sebaceous neoplasms and performed immunohistochemistry (IHC) in order to screen for new MTS cases. Sebaceous neoplasms and visceral tumors from the same patient diagnosed between 1980-2006 were included. Immunohistochemistry to determine the presence or absence of MMR gene products in skin and visceral tumors was performed with mouse monoclonal antibodies anti-MSH2, anti-MSH6 and anti-MLH1. Six sebaceous neoplasms were identified in six females. Four patients presented a lack of expression of at least one of the MMR proteins in visceral and cutaneous neoplasms, thus warranting the diagnosis of MTS. Immunohistochemistry is a useful and accessible technique for the characterization of MMR gene expression in patients with sebaceous neoplasms.

Related: Monoclonal Antibodies Gastrointestinal System Cancers MSH6 MSH2


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Cite this page: Cotterill SJ. MLH1, Cancer Genetics Web: http://www.cancerindex.org/geneweb/MLH1.htm Accessed: date

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