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Article ; Online: Erratum: CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.

Abud, Jamile / Prolla, João Carlos / Koehler-Santos, Patrícia / Ashton-Prolla, Patricia

2015 Volume 52, Issue 1, Page(s) VIII

Abstract: This corrects the article DOI: 10.1590/S0004-28032012000400008. ...

Abstract	This corrects the article DOI: 10.1590/S0004-28032012000400008.
Language	English
Publishing date	2015-01
Publishing country	Brazil
Document type	Published Erratum
ZDB-ID	137743-7
ISSN	1678-4219 ; 0004-2803
ISSN (online)	1678-4219
ISSN	0004-2803
DOI	10.1590/S0004-28032015000100017
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Article: Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies.

Schlatter, Rosane Paixão / Matte, Ursula / Polanczyk, Carisi Anne / Koehler-Santos, Patrícia / Ashton-Prolla, Patricia

Genetics and molecular biology

2015 Volume 38, Issue 3, Page(s) 332–337

Abstract: This study identifies and describes the operating costs associated with the molecular diagnosis of diseases, such as hereditary cancer. To approximate the costs associated with these tests, data informed by Standard Operating Procedures for various ... ...

Abstract	This study identifies and describes the operating costs associated with the molecular diagnosis of diseases, such as hereditary cancer. To approximate the costs associated with these tests, data informed by Standard Operating Procedures for various techniques was collected from hospital software and a survey of market prices. Costs were established for four scenarios of capacity utilization to represent the possibility of suboptimal use in research laboratories. Cost description was based on a single site. The results show that only one technique was not impacted by rising costs due to underutilized capacity. Several common techniques were considerably more expensive at 30% capacity, including polymerase chain reaction (180%), microsatellite instability analysis (181%), gene rearrangement analysis by multiplex ligation probe amplification (412%), non-labeled sequencing (173%), and quantitation of nucleic acids (169%). These findings should be relevant for the definition of public policies and suggest that investment of public funds in the establishment of centralized diagnostic research centers would reduce costs to the Public Health System.
Language	English
Publishing date	2015-08-21
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	1445712-x
ISSN	1678-4685 ; 1415-4757
ISSN (online)	1678-4685
ISSN	1415-4757
DOI	10.1590/S1415-475738320140204
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Article ; Online: Effect of Diacerein on Metabolic Control and Inflammatory Markers in Patients with Type 2 Diabetes Using Antidiabetic Agents: A Randomized Controlled Trial.

Tres, Glaucia S / Fuchs, Sandra C / Piovesan, Fabiana / Koehler-Santos, Patricia / Pereira, Fernanda Dos S / Camey, Suzi / Lisboa, Hugo K / Moreira, Leila B

Journal of diabetes research

2018 Volume 2018, Page(s) 4246521

Abstract: Introduction: Studies have shown that T2DM is an inflammatory disease. Thus, the present study was aimed at evaluating whether diacerein could improve the metabolic and inflammatory profile among patients with T2DM under long-term treatment with glucose- ...

Abstract	Introduction: Studies have shown that T2DM is an inflammatory disease. Thus, the present study was aimed at evaluating whether diacerein could improve the metabolic and inflammatory profile among patients with T2DM under long-term treatment with glucose-lowering agents. Methods: This is a double-blind, parallel, placebo-controlled trial with 72 participants randomly assigned to diacerein 50 mg or placebo for 12 weeks. The primary endpoint was the between-group difference in change in HbA1c. Secondary endpoints included the proportion of patients achieving metabolic control [HbA1c ≤ 7.0% (53 mmol/mol)] and change in inflammatory mediators. Results: Participants in the diacerein group had greater reductions in mean HbA1c level in comparison to placebo (-0.98; 95% CI: -2.02 to 0.05, Conclusions: In patients with long-established T2DM under long-term treatment with glucose-lowering agents, diacerein improves metabolic control as measured by HbA1c level and has a favorable impact on inflammatory profile. Clinical trial registry: This trial is registered with Brazilian Clinical Trials Registry (ReBEC) number RBR-29j956.
MeSH term(s)	Aged ; Anthraquinones/therapeutic use ; Anti-Inflammatory Agents/therapeutic use ; Blood Glucose/metabolism ; Diabetes Mellitus, Type 2/blood ; Diabetes Mellitus, Type 2/drug therapy ; Double-Blind Method ; Female ; Glycated Hemoglobin A/metabolism ; Humans ; Hypoglycemic Agents/therapeutic use ; Inflammation/blood ; Inflammation/drug therapy ; Male ; Middle Aged ; Treatment Outcome
Chemical Substances	Anthraquinones ; Anti-Inflammatory Agents ; Blood Glucose ; Glycated Hemoglobin A ; Hypoglycemic Agents ; diacerein (4HU6J11EL5)
Language	English
Publishing date	2018-04-02
Publishing country	England
Document type	Journal Article ; Randomized Controlled Trial
ZDB-ID	2711897-6
ISSN	2314-6753 ; 2314-6753
ISSN (online)	2314-6753
ISSN	2314-6753
DOI	10.1155/2018/4246521
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Article: Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53.

Fitarelli-Kiehl, Mariana / Macedo, Gabriel S / Schlatter, Rosane Paixão / Koehler-Santos, Patricia / Matte, Ursula da Silveira / Ashton-Prolla, Patricia / Giacomazzi, Juliana

Genetics and molecular biology

2016 Volume 39, Issue 2, Page(s) 203–209

Abstract: Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in ... ...

Abstract	Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in the general population and in cancer-affected patients, probably as result of a founder effect. Several genotyping methods are used for the molecular diagnosis of LFS/LFL, however Sanger sequencing is still considered the gold standard. We compared performance, cost and turnaround time of Sanger sequencing, PCR-RFLP, TaqMan-PCR and HRM in the p.R337H genotyping. The performance was determined by analysis of 95 genomic DNA samples and results were 100% concordant for all methods. Sequencing was the most expensive method followed by TaqMan-PCR, PCR-RFLP and HRM. The overall cost of HRM increased with the prevalence of positive samples, since confirmatory sequencing must be performed when a sample shows an abnormal melting profile, but remained lower than all other methods when the mutation prevalence was less than 2.5%. Sequencing had the highest throughput and the longest turnaround time, while TaqMan-PCR showed the lowest turnaround and hands-on times. All methodologies studied are suitable for the detection of p.R337H and the choice will depend on the application and clinical scenario.
Language	English
Publishing date	2016-01-08
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	1445712-x
ISSN	1678-4685 ; 1415-4757
ISSN (online)	1678-4685
ISSN	1415-4757
DOI	10.1590/1678-4685-GMB-2014-0351
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Article ; Online: CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.

Abud, Jamile / Koehler-Santos, Patricia / Ashton-Prolla, Patricia / Prolla, João Carlos

Arquivos de gastroenterologia

2013 Volume 49, Issue 4, Page(s) 273–278

Abstract: Context: CHEK2 encodes a cell cycle checkpoint kinase that plays an important role in the DNA damage repair pathway, activated mainly by ATM (Ataxia Telangiectasia Mutated) in response to double-stranded DNA breaks. A germline mutation in CHEK2, ... ...

Abstract	Context: CHEK2 encodes a cell cycle checkpoint kinase that plays an important role in the DNA damage repair pathway, activated mainly by ATM (Ataxia Telangiectasia Mutated) in response to double-stranded DNA breaks. A germline mutation in CHEK2, 1100delC, has been described as a low penetrance allele in a significant number of families with breast and colorectal cancer in certain countries and is also associated with increased risk of contralateral breast cancer in women previously affected by the disease. About 5%-10% of all breast and colorectal cancers are associated with hereditary predisposition and its recognition is of great importance for genetic counseling and cancer risk management. Objectives: Here, we have assessed the frequency of the CHEK2 1100delC mutation in the germline of 59 unrelated Brazilian individuals with clinical criteria for the hereditary breast and colorectal cancer syndrome. Methods: A long-range PCR strategy followed by gene sequencing was used. Results: The 1100delC mutation was encountered in the germline of one (1.7%) individual in this high risk cohort. This indicates that the CHEK2 1100delC is not commonly encountered in Brazilian families with multiple diagnoses of breast and colorectal cancer. Conclusion: These results should be confirmed in a larger series of families and further testing should be undertaken to investigate the molecular mechanisms underlying the hereditary breast and colorectal cancer phenotype.
MeSH term(s)	Brazil ; Breast Neoplasms/genetics ; Checkpoint Kinase 2 ; Colonic Neoplasms/genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Germ-Line Mutation/genetics ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Protein-Serine-Threonine Kinases/genetics
Chemical Substances	Checkpoint Kinase 2 (EC 2.7.1.11) ; CHEK2 protein, human (EC 2.7.11.1) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1)
Language	English
Publishing date	2013-01-16
Publishing country	Brazil
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	137743-7
ISSN	1678-4219 ; 0004-2803
ISSN (online)	1678-4219
ISSN	0004-2803
DOI	10.1590/s0004-28032012000400008
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Article ; Online: Cytopathological tests for early detection of oral carcinogenesis.

Salgueiro, Arthur P / Martelli, Francine T / D'Ávila, Stéphanie R / Milnikel, Tainara R / Koehler-Santos, Patricia / Maraschin, Bruna J / da Silva, Viviane P / Rados, Pantelis V / Visioli, Fernanda

European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)

2019 Volume 29, Issue 1, Page(s) 73–79

Abstract: The carcinogenesis in the oral cavity occurs as a multistep process and is often preceded by potentially malignant lesions. The main risk factors for the development of oral cancer are smoking and alcohol intake. The current challenge is to identify ... ...

Abstract	The carcinogenesis in the oral cavity occurs as a multistep process and is often preceded by potentially malignant lesions. The main risk factors for the development of oral cancer are smoking and alcohol intake. The current challenge is to identify patients at greatest risk for the development of oral cancer using noninvasive and effective methods. The aim of this study is to evaluate the microsatellite mutations in the 9p21 locus, the cell proliferative activity, the pattern of epithelial desquamation, and the nucleus/cytoplasm ratio of exfoliated epithelial cells. Cytopathological samples were collected from 131 individuals divided into four groups: control (n = 26), alcohol-smoking (n = 32), leukoplakia (n = 38), and the oral squamous cell carcinoma group (OSCC, n = 35). From the cytological scraping, a slide was silver impregnated for Ag-stained nucleolar organizer region analysis and another slide was stained using the Papanicolaou technique. The remaining cells were used for DNA extraction, followed by PCR amplification and capillary electrophoresis. The cell proliferation velocity rate was higher in the leukoplakia and OSCC groups compared with the control group (P < 0.05). The leukoplakia group showed increased anucleated scales, whereas the nucleated superficial predominated in the control group and the parabasal cells in the OSCC group (P < 0.05). An increased nucleus/cytoplasm ratio was detected only in the OSCC group (P < 0.05). The 9p21 locus mutation frequency was higher in the alcohol-smoking and leukoplakia groups. 9p21 analysis and Ag-stained nucleolar organizer region methods are promising for the screening and monitoring of individuals at higher risk for the development of oral cancer.
MeSH term(s)	Adult ; Aged ; Alcohol Drinking/epidemiology ; Carcinogenesis/genetics ; Case-Control Studies ; Cell Proliferation/genetics ; Chromosomes, Human, Pair 9/genetics ; Diagnosis, Differential ; Early Detection of Cancer/methods ; Female ; Humans ; Leukoplakia, Oral/diagnosis ; Leukoplakia, Oral/genetics ; Leukoplakia, Oral/pathology ; Loss of Heterozygosity ; Male ; Microsatellite Instability ; Microsatellite Repeats/genetics ; Middle Aged ; Mouth Mucosa/pathology ; Mouth Neoplasms/diagnosis ; Mouth Neoplasms/genetics ; Mouth Neoplasms/pathology ; Mouth Neoplasms/prevention & control ; Nucleolus Organizer Region/genetics ; Papanicolaou Test ; Risk Factors ; Smoking/epidemiology ; Squamous Cell Carcinoma of Head and Neck/diagnosis ; Squamous Cell Carcinoma of Head and Neck/genetics ; Squamous Cell Carcinoma of Head and Neck/pathology ; Squamous Cell Carcinoma of Head and Neck/prevention & control
Language	English
Publishing date	2019-03-25
Publishing country	England
Document type	Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't
ZDB-ID	1137033-6
ISSN	1473-5709 ; 0959-8278
ISSN (online)	1473-5709
ISSN	0959-8278
DOI	10.1097/CEJ.0000000000000513
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Article ; Online: Pharmacokinetics, biodistribution, and in vivo toxicity of 7-nitroindazole loaded in pegylated and non-pegylated nanoemulsions in rats.

França, Angela Patricia / Silva, Thais Alves / Schulz, Daniela / Gomes-Pereira, Leonardo / Cunha, Livia Melo Arruda / Gonçalves, Merita Pereira / Vieira, João Victor Soares / Sanches, Mariele Paludetto / Koehler, Natalia / Maluf, Sharbel / Poli, Anicleto / da Silva-Santos, José Eduardo / Assreuy, Jamil / Lemos-Senna, Elenara

European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences

2024 Volume 194, Page(s) 106695

Abstract: Sepsis is a life-threatening condition caused by a dysregulated host response to infection. The development of sepsis is associated with excessive nitric oxide (NO) production, which plays an important role in controlling vascular homeostasis. 7- ... ...

Abstract	Sepsis is a life-threatening condition caused by a dysregulated host response to infection. The development of sepsis is associated with excessive nitric oxide (NO) production, which plays an important role in controlling vascular homeostasis. 7-nitroindazole (7-NI) is a selective inhibitor of neuronal nitric oxide synthase (NOS-1) with potential application for treating NO imbalance conditions. However, 7-NI exhibits a low aqueous solubility and a short plasma half-life. To circumvent these biopharmaceutical limitations, pegylated (NEPEG
MeSH term(s)	Rats ; Animals ; Rats, Wistar ; Nitric Oxide Synthase/metabolism ; Tissue Distribution ; Indazoles/toxicity ; Indazoles/pharmacokinetics ; Sepsis ; Polyethylene Glycols/toxicity ; Enzyme Inhibitors/pharmacology
Chemical Substances	Nitric Oxide Synthase (EC 1.14.13.39) ; 7-nitroindazole (UX0N37CMVH) ; Indazoles ; Polyethylene Glycols (3WJQ0SDW1A) ; Enzyme Inhibitors
Language	English
Publishing date	2024-01-07
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1154366-8
ISSN	1879-0720 ; 0928-0987
ISSN (online)	1879-0720
ISSN	0928-0987
DOI	10.1016/j.ejps.2024.106695
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Article ; Online: Metabolic dysfunction in a rat model of early-life scarcity-adversity: Modulatory role of cafeteria diet.

Sagae, Sara C / Zanardini, Bárbara / Ribeiro-Paz, Edson D / Amaral, Ana Claudia / Bronczek, Gabriela A / Lubaczeuski, Camila / Grassiolli, Sabrina / Koehler-Santos, Patrícia / de Oliveira, Jarbas Rodrigues / Donadio, Márcio Vinícius Fagundes / Raineki, Charlis

Experimental physiology

2018 Volume 103, Issue 11, Page(s) 1481–1493

Abstract: New findings: What is the central question of this study? Early-life adversity is associated with increased risk for obesity and metabolic dysfunction. However, it is unclear whether obesity and metabolic dysfunction result from coping strategies to ... ...

Abstract	New findings: What is the central question of this study? Early-life adversity is associated with increased risk for obesity and metabolic dysfunction. However, it is unclear whether obesity and metabolic dysfunction result from coping strategies to deal with adversity-related emotional dysregulation, a direct programming of systems regulating metabolic function, or a combination of both. What is the main finding and its importance? Early-life adversity increases vulnerability to later-life obesity and metabolic dysfunction, indicating that genetics and adult lifestyle are not the only determinants of obesity and related metabolic dysfunction. Moreover, consumption of cafeteria diet exacerbated metabolic dysfunction associated with early-life adversity, suggesting that poor dietary choices might have a bigger impact in the context of early-life adversity. Abstract: Early-life adversity has become recognized as an important factor contributing to adult obesity and associated metabolic dysfunction. However, it is unclear whether obesity and metabolic dysfunction associated with early-life adversity result from coping strategies to deal with adversity-related emotional dysregulation, a direct programming of systems regulating metabolic function, or a combination. Interestingly, both early-life adversity and later-life dietary choices affect immune function, favouring pro-inflammatory mechanisms that are associated with obesity-related metabolic dysfunction. To investigate the unique and/or interactive effects of early-life adversity and later-life dietary choices for increased vulnerability to obesity and metabolic dysfunction, and specifically the role of the immune system in this vulnerability, we combined a naturalistic rat model of early-life scarcity-adversity with a rat model of obesity, the cafeteria diet. Our results indicate that early-life adversity alone induces insulin resistance, reduces pancreatic insulin secretion, plasma concentrations of triglycerides and cholesterol, and increases fasting glucose and tumour necrosis factor-α plasma concentrations. Importantly, animals exposed to adverse rearing were more vulnerable to metabolic dysregulation associated with the cafeteria diet, given that they consumed more energy, showed more severe hepatic steatosis and increased concentrations of the pro-inflammatory cytokine interleukin-1β than normally reared animals fed the cafeteria diet. Together, our results suggest that early-life adversity negatively programmes physiological systems that regulate metabolic function and increases vulnerability to obesity and metabolic dysfunction in adulthood. These results highlight the intrinsic relationship between the quality of the early postnatal environment and later-life dietary choices on adult health outcomes.
MeSH term(s)	Animals ; Diet ; Disease Models, Animal ; Female ; Insulin/blood ; Insulin Resistance/physiology ; Interleukin-1beta/blood ; Male ; Obesity/metabolism ; Rats ; Rats, Wistar ; Triglycerides/blood ; Tumor Necrosis Factor-alpha/blood
Chemical Substances	Insulin ; Interleukin-1beta ; Triglycerides ; Tumor Necrosis Factor-alpha
Language	English
Publishing date	2018-10-08
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1016295-1
ISSN	1469-445X ; 0958-0670
ISSN (online)	1469-445X
ISSN	0958-0670
DOI	10.1113/EP087171
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Article ; Online: Inflammatory profile in X-linked adrenoleukodystrophy patients: Understanding disease progression.

Marchetti, Desirèe Padilha / Donida, Bruna / Jacques, Carlos Eduardo / Deon, Marion / Hauschild, Tatiane Cristina / Koehler-Santos, Patricia / de Moura Coelho, Daniella / Coitinho, Adriana Simon / Jardim, Laura Bannach / Vargas, Carmen Regla

Journal of cellular biochemistry

2017 Volume 119, Issue 1, Page(s) 1223–1233

Abstract: X-linked adrenoleukodystrophy (X-ALD) is an inherited disease characterized by progressive inflammatory demyelization in the brain, adrenal insufficiency, and an abnormal accumulation of very long chain fatty acids (VLCFA) in tissue and body fluids. ... ...

Abstract	X-linked adrenoleukodystrophy (X-ALD) is an inherited disease characterized by progressive inflammatory demyelization in the brain, adrenal insufficiency, and an abnormal accumulation of very long chain fatty acids (VLCFA) in tissue and body fluids. Considering that inflammation might be involved in pathophysiology of X-ALD, we aimed to investigate pro- and anti-inflammatory cytokines in plasma from three different male phenotypes (CCER, AMN, and asymptomatic individuals). Our results showed that asymptomatic patients presented increased levels of pro-inflammatory cytokines IL-1β, IL-2, IL-8, and TNF-α and the last one was also higher in AMN phenotype. Besides, asymptomatic patients presented higher levels of anti-inflammatory cytokines IL-4 and IL-10. AMN patients presented higher levels of IL-2, IL-5, and IL-4. We might hypothesize that inflammation in X-ALD is related to plasmatic VLCFA concentration, since there were positive correlations between C26:0 plasmatic levels and pro-inflammatory cytokines in asymptomatic and AMN patients and negative correlation between anti-inflammatory cytokine and C24:0/C22:0 ratio in AMN patients. The present work yields experimental evidence that there is an inflammatory imbalance associated Th1, (IL-2, IL-6, and IFN-γ), Th2 (IL-4 and IL-10), and macrophages response (TNF-α and IL-1β) in the periphery of asymptomatic and AMN patients, and there is correlation between VLCFA plasmatic levels and inflammatory mediators in X-ALD. Furthermore, we might also speculate that the increase of plasmatic cytokines in asymptomatic patients could be considered an early biomarker of brain damage and maybe also a predictor of disease progression.
MeSH term(s)	Adolescent ; Adrenoleukodystrophy/blood ; Adrenoleukodystrophy/immunology ; Adult ; Child ; Child, Preschool ; Cytokines/blood ; Fatty Acids/blood ; Humans ; Infant ; Interleukin-10/blood ; Interleukin-1beta/blood ; Interleukin-2/blood ; Interleukin-4/blood ; Interleukin-5/blood ; Macrophages/immunology ; Male ; Middle Aged ; Th1 Cells/immunology ; Tumor Necrosis Factor-alpha/blood ; Young Adult
Chemical Substances	Cytokines ; Fatty Acids ; IL10 protein, human ; IL1B protein, human ; IL2 protein, human ; IL4 protein, human ; IL5 protein, human ; Interleukin-1beta ; Interleukin-2 ; Interleukin-5 ; TNF protein, human ; Tumor Necrosis Factor-alpha ; Interleukin-10 (130068-27-8) ; Interleukin-4 (207137-56-2)
Language	English
Publishing date	2017-08-23
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	392402-6
ISSN	1097-4644 ; 0730-2312
ISSN (online)	1097-4644
ISSN	0730-2312
DOI	10.1002/jcb.26295
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Article ; Online: Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil.

Pitroski, Carlos E / Cossio, Silvia Liliana / Koehler-Santos, Patrícia / Graudenz, Marcia / Prolla, João Carlos / Ashton-Prolla, Patricia

International journal of colorectal disease

2011 Volume 26, Issue 7, Page(s) 841–846

Abstract: Introduction: MUTYH-associated polyposis (MAP) is an autosomal recessive cancer predisposition syndrome associated with the development of colorectal tumors and colonic polyps at an early age. MAP syndrome is associated to germline biallelic mutations ... ...

Abstract	Introduction: MUTYH-associated polyposis (MAP) is an autosomal recessive cancer predisposition syndrome associated with the development of colorectal tumors and colonic polyps at an early age. MAP syndrome is associated to germline biallelic mutations in the MUTYH gene which lead to deficient DNA repair through the base-excision repair system and accumulation of G:C→T:A transversions. Occurrence of such mutations in oncogenes and tumor suppressor genes drives colorectal carcinogenesis and is associated with the development of colonic polyps. Two common mutations, p.Y179C and p.G396D, are present in approximately 70-80% of MAP in European families with identified MUTYH germline mutations. The aim of this study was to assess the frequency of the germline MUTYH mutations p.Y179C and p.G396D in Brazilian patients with MAP and other hereditary colorectal cancer (CRC) phenotypes, as well as in sporadic CRC cases. Materials and methods: A total of 75 patients were included. Samples were screened for the MUTYH germline mutations p.Y179C and p.G396D by allelic discrimination assays using allele-specific TaqMan® probes. In all mutation-positive cases, results were confirmed by sequencing. Results and conclusions: Biallelic germline MUTYH mutations were identified in 4 of 60 (6.6%) patients with a phenotype of hereditary colorectal cancer. Germline MUTYH mutation screening should be considered in the differential diagnosis of hereditary colorectal syndromes, and not only in MAP, but also in familial adenomatous polyposis and Bethesda criteria-positive families. Additional mutation screening studies of the MUTYH gene in a larger number of Brazilian patients will be necessary to confirm these results and determine the validity and applicability of MUTYH mutation screening in our population.
MeSH term(s)	Adult ; Amino Acid Substitution/genetics ; Base Sequence ; Brazil ; Colorectal Neoplasms/diagnosis ; Colorectal Neoplasms/enzymology ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/pathology ; DNA Glycosylases/genetics ; Female ; Genetic Predisposition to Disease ; Germ-Line Mutation/genetics ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype
Chemical Substances	DNA Glycosylases (EC 3.2.2.-) ; mutY adenine glycosylase (EC 3.2.2.-)
Language	English
Publishing date	2011-03-22
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	84975-3
ISSN	1432-1262 ; 0179-1958
ISSN (online)	1432-1262
ISSN	0179-1958
DOI	10.1007/s00384-011-1172-1
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In stock of ZB MED Cologne/Königswinter

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In stock of ZB MED Cologne/Königswinter

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In stock of ZB MED Cologne/Königswinter

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