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Article ; Online: pCLE detects mucosal neoplastic vascular pattern in gastric linitis plastica.

Fornasarig, Mara / Capuano, Alessandra / Maiero, Stefania / Pivetta, Eliana / Canzonieri, Vincenzo / Belluco, Claudio / Mongiat, Maurizio / Cannizzaro, Renato / Spessotto, Paola

Clinical and experimental medicine

2022 Volume 23, Issue 2, Page(s) 547–551

Abstract: Linitis plastica (LP) is a very aggressive and rare carcinoma with a scirrhous stroma that affects the submucosal and muscular layers of the stomach even without mucosal alterations. Lack of timely diagnosis is a crucial problem related to its prognosis ... ...

Abstract	Linitis plastica (LP) is a very aggressive and rare carcinoma with a scirrhous stroma that affects the submucosal and muscular layers of the stomach even without mucosal alterations. Lack of timely diagnosis is a crucial problem related to its prognosis and treatment. In this study, we investigated the LP-associated vascular pattern as a possible means to improve the diagnosis of these patients. During standard endoscopy, mucosal architecture, tortuosity and enlargement of vessels, as well as the presence of vascular leakage and efficiency of the blood flow were assessed in six LP patients using probe-based Confocal Laser Endomicroscopy (pCLE). In all LP patients, we detected abnormal changes in vasculature. The aberrant features of the vascular network were common to all LP patients examined and consisted of vessel enlargement, tortuosity, and leakage associated with the affected submucosal layer. This is the first study to highlight the presence of marked vascularization associated with LP, characterized by the presence of abnormal and non-functional vessels, similar to what is observed in neoplastic tissues. Therefore, the analysis of LP by pCLE may provide a new endoscopic approach and strategy to better define these patients.
MeSH term(s)	Humans ; Linitis Plastica/diagnosis ; Linitis Plastica/complications ; Linitis Plastica/pathology ; Stomach Neoplasms/diagnosis ; Stomach Neoplasms/pathology ; Prognosis ; Endoscopy ; Microscopy, Confocal
Language	English
Publishing date	2022-06-01
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2053018-3
ISSN	1591-9528 ; 1591-8890
ISSN (online)	1591-9528
ISSN	1591-8890
DOI	10.1007/s10238-022-00843-y
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Article ; Online: Family's History Based on the

Caggiari, Laura / Fornasarig, Mara / De Zorzi, Mariangela / Cannizzaro, Renato / Steffan, Agostino / De Re, Valli

International journal of molecular sciences

2020 Volume 21, Issue 14

Abstract: Hereditary diffuse gastric cancer (HDGC) is a cancer susceptibility syndrome caused by germline pathogenic variant ... ...

Abstract	Hereditary diffuse gastric cancer (HDGC) is a cancer susceptibility syndrome caused by germline pathogenic variant in
MeSH term(s)	Amino Acid Sequence ; Antigens, CD/chemistry ; Antigens, CD/genetics ; Antigens, CD/physiology ; Base Sequence ; Breast Neoplasms/genetics ; Cadherins/chemistry ; Cadherins/genetics ; Cadherins/physiology ; Chromosomes, Human, Pair 16/genetics ; Codon, Nonsense ; Female ; Frameshift Mutation ; Genetic Counseling ; Germ-Line Mutation ; Humans ; Male ; Middle Aged ; Neoplastic Syndromes, Hereditary/genetics ; Pedigree ; Sequence Deletion ; Stomach Neoplasms/genetics
Chemical Substances	Antigens, CD ; CDH1 protein, human ; Cadherins ; Codon, Nonsense
Language	English
Publishing date	2020-07-11
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms21144904
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Article ; Online: pCLE highlights distinctive vascular patterns in early gastric cancer and in gastric diseases with high risk of malignant complications.

Fornasarig, Mara / Capuano, Alessandra / Maiero, Stefania / Pivetta, Eliana / Guarnieri, Giovanni / Canzonieri, Vincenzo / Zucchetto, Antonella / Mongiat, Maurizio / Cannizzaro, Renato / Spessotto, Paola

Scientific reports

2021 Volume 11, Issue 1, Page(s) 21053

Abstract: Endoscopy is widely used to detect and diagnose precancerous lesions and gastric cancer (GC). The probe-based Confocal Laser Endomicroscopy (pCLE) is an endoscopic technique suitable for subcellular resolution and for microvasculature analyses. The aim ... ...

Abstract	Endoscopy is widely used to detect and diagnose precancerous lesions and gastric cancer (GC). The probe-based Confocal Laser Endomicroscopy (pCLE) is an endoscopic technique suitable for subcellular resolution and for microvasculature analyses. The aim of this study was to use pCLE to identify specific vascular patterns in high-risk and early stage GC. Mucosal architecture, vessel tortuosity, enlargements and leakage were assessed in patients with autoimmune gastritis and early gastric cancer (EGC). We were able to stratify gastritis patients by identifying distinct vascular profiles: gastritis was usually associated with increased vascularization characterized by a high number of tortuous vessels, which were also found in atrophic autoimmune disease. Leaky and tortuous vessels, distributed in a spatially irregular network, characterized the atrophic metaplastic mucosa. The mucosal vasculature of EGC patients displayed tortuous vessels, but unlike what detected in atrophic gastritis, they appeared patchy, as is in neoplastic gastric tissue. Very importantly, we detected vascular changes even in areas without lesions, supporting the contention that vascular alterations may provide a favorable microenvironment for carcinogenesis. This report confirms that pCLE is a valid endoscopic approach to improve the definition of patients with malignant lesions or at increased risk for GC by assessing vascular changes.
MeSH term(s)	Adult ; Aged ; Endoscopy, Gastrointestinal ; Female ; Gastric Mucosa/blood supply ; Gastric Mucosa/pathology ; Gastritis, Atrophic/pathology ; Humans ; Male ; Middle Aged ; Neovascularization, Pathologic/pathology ; Precancerous Conditions/pathology ; Stomach Neoplasms/blood supply ; Stomach Neoplasms/pathology
Language	English
Publishing date	2021-10-26
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-021-00550-w
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Article: Probe-based confocal laser endomicroscopy (pCLE) is a suitable method for extrapulmonary high grade neuroendocrine rectal carcinoma (HGNEC) evaluation.

Cannizzaro, Renato / Maiero, Stefania / Fornasarig, Mara / Canzonieri, Vincenzo / Magris, Raffaella / Guarnieri, Giovanni / Urbani, Martina / Buonadonna, Angela / Baresic, Tanja / Spessotto, Paola

OncoTargets and therapy

2019 Volume 12, Page(s) 4577–4583

Abstract: The potential role of the probe-based confocal laser endomicroscopy (pCLE) has been analyzed in different pathologic conditions of the gastrointestinal tract. Here, we analyzed a case of extrapulmonary high grade neuroendocrine rectal carcinoma (HGNEC) ... ...

Abstract	The potential role of the probe-based confocal laser endomicroscopy (pCLE) has been analyzed in different pathologic conditions of the gastrointestinal tract. Here, we analyzed a case of extrapulmonary high grade neuroendocrine rectal carcinoma (HGNEC) using, for the first time, the pCLE system. A 72-year old man was diagnosed with an 8 cm diameter rectal HGNEC by standard colonoscopy integrated with the pCLE system. The diagnosis of neuroendocrine carcinoma was confirmed by immunohistochemical analyses. By using the pCLE system, we well defined and resolved vascular structures and mucosal architecture. An altered mucosal pattern and vascular defects, peculiar for HGNEC, were observed at high magnification, allowing the identification of a pattern which was quite different from that observed in poorly differentiated adenocarcinomas (PDA) where tissues appear darker, very irregular, even if glandular structures can still be recognized. This underlines the usefulness of pCLE in discriminating HGNECs from PDAs. In conclusion, pCLE could represent a valid and helpful method for in vivo HGNEC diagnosis, allowing prompt and careful management of the patient.
Language	English
Publishing date	2019-06-17
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2495130-4
ISSN	1178-6930
ISSN	1178-6930
DOI	10.2147/OTT.S198034
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Article ; Online: An Exceptional Response to Dostarlimab in Mismatch Repair Deficient, Microsatellite Instability-High and Platinum Refractory Endometrial Cancer.

Bartoletti, Michele / Giorda, Giorgio / Viel, Alessandra / Fornasarig, Mara / Zdjelar, Adrian / Segatto, Enrica / Sorio, Roberto / Corsetti, Serena / Scalone, Simona / Nicoloso, Milena Sabrina / Pivetta, Tania / Lucia, Emilio / Clemente, Nicolò / Palazzari, Elisa / Canzonieri, Vincenzo / Puglisi, Fabio

Current oncology (Toronto, Ont.)

2022 Volume 29, Issue 8, Page(s) 5209–5212

Abstract: Until recently, effective therapies for advanced endometrial cancer progressing to a platinum-based combination were lacking. In this setting, immunotherapy with anti PD-1/PDL-1 monoclonal antibodies is rising as a new paradigm in particular for patients ...

Abstract	Until recently, effective therapies for advanced endometrial cancer progressing to a platinum-based combination were lacking. In this setting, immunotherapy with anti PD-1/PDL-1 monoclonal antibodies is rising as a new paradigm in particular for patients with microsatellites instability/mismatch repair deficiency. In this case report, we describe an exceptional and rapid response to dostarlimab in a platinum refractory endometrial cancer patient with high disease burden harboring a mismatch repair deficiency.
MeSH term(s)	Antibodies, Monoclonal, Humanized ; Brain Neoplasms ; Colorectal Neoplasms ; DNA Mismatch Repair ; Endometrial Neoplasms/drug therapy ; Endometrial Neoplasms/genetics ; Female ; Humans ; Immune Checkpoint Inhibitors ; Microsatellite Instability ; Neoplastic Syndromes, Hereditary ; Platinum/therapeutic use ; Programmed Cell Death 1 Receptor
Chemical Substances	Antibodies, Monoclonal, Humanized ; Immune Checkpoint Inhibitors ; Programmed Cell Death 1 Receptor ; dostarlimab ; Platinum (49DFR088MY)
Language	English
Publishing date	2022-07-22
Publishing country	Switzerland
Document type	Case Reports ; Research Support, Non-U.S. Gov't
ZDB-ID	1236972-x
ISSN	1718-7729 ; 1198-0052
ISSN (online)	1718-7729
ISSN	1198-0052
DOI	10.3390/curroncol29080413
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Article ; Online: Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis.

Fornasarig, Mara / Magris, Raffaella / De Re, Valli / Bidoli, Ettore / Canzonieri, Vincenzo / Maiero, Stefania / Viel, Alessandra / Cannizzaro, Renato

International journal of molecular sciences

2018 Volume 19, Issue 6

Abstract: Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are autosomal dominant hereditary diseases caused by germline mutations leading to the development of colorectal cancer. Moreover, these mutations result in the development of a spectrum of ... ...

Abstract	Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are autosomal dominant hereditary diseases caused by germline mutations leading to the development of colorectal cancer. Moreover, these mutations result in the development of a spectrum of different tumors, including gastric cancers (GCs). Since the clinical characteristics of GCs associated with LS and FAP are not well known, we investigated clinical and molecular features of GCs occurring in patients with LS and FAP attending our Institution. The Hereditary Tumor Registry was established in 1994 at the Department of Oncologic Gastroenterology, CRO Aviano National Cancer Institute, Italy. It includes 139 patients with LS and 86 patients with FAP. Patients were recruited locally for prospective surveillance. Out of 139 LS patients, 4 developed GC—3 in the presence of helicobacter pylori infection and 1 on the background of autoimmune diseases. All GCs displayed a high microsatellite instability (MSI-H) and loss of related mismatch repair (MMR) protein. One of the FAP patients developed a flat adenoma, displaying low-grade dysplasia at the gastric body, and another poorly differentiated adenocarcinoma with signet ring cells like Krukenberg without HP infection. LS carriers displayed a risk of GC. The recognition of HP infection and autoimmune diseases would indicate those at higher risk for an endoscopic surveillance. Regarding FAP, the data suggested the need of suitable endoscopic surveillance in long survivals with diffuse fundic gland polyps.
MeSH term(s)	Adenomatous Polyposis Coli/genetics ; Adenomatous Polyposis Coli/pathology ; Adult ; Aged ; Antigens, CD ; Cadherins/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; DNA Mismatch Repair ; Female ; Germ-Line Mutation ; Humans ; Male ; Microsatellite Instability ; Middle Aged ; Prospective Studies ; Stomach Neoplasms/genetics ; Stomach Neoplasms/pathology
Chemical Substances	Antigens, CD ; CDH1 protein, human ; Cadherins
Language	English
Publishing date	2018-06-06
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms19061682
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Article ; Online: Deregulated expression of Elastin Microfibril Interfacer 2 (EMILIN2) in gastric cancer affects tumor growth and angiogenesis.

Andreuzzi, Eva / Fejza, Albina / Capuano, Alessandra / Poletto, Evelina / Pivetta, Eliana / Doliana, Roberto / Pellicani, Rosanna / Favero, Andrea / Maiero, Stefania / Fornasarig, Mara / Cannizzaro, Renato / Iozzo, Renato V / Spessotto, Paola / Mongiat, Maurizio

Matrix biology plus

2020 Volume 6-7, Page(s) 100029

Abstract: Gastric cancer is a frequent human tumor and often a lethal disease. Targeted therapy for gastric carcinomas is far behind vis-à-vis other solid tumors, primarily because of the paucity of cancer-driving mutations that could be efficiently and ... ...

Abstract	Gastric cancer is a frequent human tumor and often a lethal disease. Targeted therapy for gastric carcinomas is far behind vis-à-vis other solid tumors, primarily because of the paucity of cancer-driving mutations that could be efficiently and specifically targeted by current therapy. Thus, there is a need to discover actionable pathways/proteins and new diagnostic and prognostic biomarkers. In this study, we explored the role of the extracellular matrix glycoprotein EMILIN2, Elastin Microfibril Interfacer 2, in a cohort of gastric cancer patients. We discovered that EMILIN2 expression was consistently suppressed in gastric cancer and high expression levels of this glycoprotein were linked to abnormal vascular density. Furthermore, we found that EMILIN2 had a dual effect on gastric carcinoma cells: on one hand, it decreased tumor cell proliferation by triggering apoptosis, and on the other hand, it evoked the production of a number of cytokines involved in angiogenesis and inflammation, such as IL-8. Collectively, our findings posit EMILIN2 as an important onco-regulator exerting pleiotropic effects on the gastric cancer microenvironment.
Language	English
Publishing date	2020-02-19
Document type	Journal Article
ISSN	2590-0285
ISSN (online)	2590-0285
DOI	10.1016/j.mbplus.2020.100029
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Article ; Online: Low Pepsinogen I/II Ratio and High Gastrin-17 Levels Typify Chronic Atrophic Autoimmune Gastritis Patients With Gastric Neuroendocrine Tumors.

Magris, Raffaella / De Re, Valli / Maiero, Stefania / Fornasarig, Mara / Guarnieri, Giovanni / Caggiari, Laura / Mazzon, Cinzia / Zanette, Giorgio / Steffan, Agostino / Canzonieri, Vincenzo / Cannizzaro, Renato

Clinical and translational gastroenterology

2020 Volume 11, Issue 9, Page(s) e00238

Abstract: Introduction: Chronic atrophic autoimmune gastritis (CAAG) can lead to the development of gastric neuroendocrine tumors (gNETs) and can be accompanied by other autoimmune diseases. This study aimed to determine, in CAAG patients, the association of gNET ...

Abstract	Introduction: Chronic atrophic autoimmune gastritis (CAAG) can lead to the development of gastric neuroendocrine tumors (gNETs) and can be accompanied by other autoimmune diseases. This study aimed to determine, in CAAG patients, the association of gNET development, the prevalence of autoimmune diseases other than CAAG, the association of autoimmunity, and gNET development with pepsinogen I, II, gastrin-17, and Helicobacter pylori infection analysis. Methods: We determined the prevalence of gNETs and other autoimmune diseases and analyzed pepsinogen I and II, gastrin-17 serum levels, and H. pylori infection in all patients diagnosed with CAAG at our hospital between 2013 and 2017. Results: A total of 156 patients were studied and in 15.4% was observed concomitant gNET. Approximately 68.6% had at least 1 other autoimmune disease at diagnosis of CAAG. Approximately 60.9% had autoimmune thyroiditis, followed by diabetes (19.9%) and autoimmune polyendocrine syndrome (12.8%). CAAG patients with and without gNET had similar rates of comorbidity with other autoimmune diseases, but the pepsinogen I/II ratio was lower in patients with gNET (1.6 vs 4.5, P = 0.018). Receiver operating characteristic curve analyses identified a pepsinogen I/II ratio <2.3 and gastrin-17 levels >29.6 pmol/L as cutoffs distinguishing CAAG patients with gNET from those without. The combined use of these cutoff correctly identified 16 of the 18 CAAG patients with gNET (P = 0.007). H. pylori infection was observed in 28.7% of cases tested but did not associate with gNET. Discussion: This study suggests that a low pepsinogen I/II ratio and high gastrin-17 levels characterize patients with CAAG and gNET and confirms the frequent coexistence of CAAG with other autoimmune diseases.
MeSH term(s)	Adolescent ; Adult ; Aged ; Autoimmune Diseases/blood ; Autoimmune Diseases/diagnosis ; Autoimmune Diseases/epidemiology ; Autoimmune Diseases/immunology ; Biomarkers/blood ; Diagnosis, Differential ; Female ; Gastrins/blood ; Gastritis, Atrophic/blood ; Gastritis, Atrophic/diagnosis ; Gastritis, Atrophic/epidemiology ; Gastritis, Atrophic/immunology ; Helicobacter Infections/blood ; Helicobacter Infections/diagnosis ; Helicobacter Infections/epidemiology ; Helicobacter Infections/immunology ; Helicobacter pylori/immunology ; Helicobacter pylori/isolation & purification ; Humans ; Male ; Middle Aged ; Neuroendocrine Tumors/blood ; Neuroendocrine Tumors/diagnosis ; Neuroendocrine Tumors/epidemiology ; Pepsinogen A/blood ; Pepsinogen C/blood ; Prevalence ; ROC Curve ; Retrospective Studies ; Stomach Neoplasms/blood ; Stomach Neoplasms/diagnosis ; Stomach Neoplasms/epidemiology ; Young Adult
Chemical Substances	Biomarkers ; Gastrins ; gastrin 17 (60748-06-3) ; Pepsinogen C (61536-72-9) ; Pepsinogen A (9001-10-9)
Language	English
Publishing date	2020-10-23
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2581516-7
ISSN	2155-384X ; 2155-384X
ISSN (online)	2155-384X
ISSN	2155-384X
DOI	10.14309/ctg.0000000000000238
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Article: A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare

Fornasarig, Mara / Gasparotto, Daniela / Foltran, Luisa / Campigotto, Michele / Lombardi, Sara / Del Savio, Elisa / Buonadonna, Angela / Puglisi, Fabio / Sulfaro, Sandro / Canzonieri, Vincenzo / Cannizzaro, Renato / Maestro, Roberta

Journal of personalized medicine

2020 Volume 10, Issue 4

Abstract: Gastrointestinal stromal tumors (GISTs), the most common mesenchymal tumors of the gastrointestinal tract, are characterized by activating mutations ... ...

Abstract	Gastrointestinal stromal tumors (GISTs), the most common mesenchymal tumors of the gastrointestinal tract, are characterized by activating mutations in
Language	English
Publishing date	2020-11-17
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2662248-8
ISSN	2075-4426
ISSN	2075-4426
DOI	10.3390/jpm10040234
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Article ; Online: Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Dell'Elice, Anastasia / Cini, Giulia / Fornasarig, Mara / Armelao, Franco / Barana, Daniela / Bianchi, Francesca / Casalis Cavalchini, Guido Claudio / Maffè, Antonella / Mammi, Isabella / Pedroni, Monica / Percesepe, Antonio / Sorrentini, Italo / Tibiletti, Mariagrazia / Maestro, Roberta / Quaia, Michele / Viel, Alessandra

Molecular genetics & genomic medicine

2021 Volume 9, Issue 12, Page(s) e1831

Abstract: Backgrounds: MUTYH-associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with ... ...

Abstract	Backgrounds: MUTYH-associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with monoallelic MUTYH PV. The analysis focused on 26 patients with suspected MAP, belonging to 23 families. Ten probands carried also one or more additional MUTYH variants of unknown significance. Methods: Based on variant type and on the collected clinical and molecular data, these variants were reinterpreted by applying the ACMG/AMP rules. Moreover, supplementary analyses were carried out to investigate the presence of other variants and copy number variations in the coding and promoter regions of MUTYH, as well as other polyposis genes (APC, NTHL1, POLE, POLD1, MSH3, RNF43, and MCM9). Results: We reclassified 4 out of 10 MUTYH variants as pathogenic or likely pathogenic, thus supporting the diagnosis of MAP in only four cases. Two other patients belonging to the same family showed a previously undetected deletion of the APC gene promoter. No PVs were found in the other investigated genes. However, 6 out of the 18 remaining families are still interesting MAP candidates, due to the co-presence of a class 3 MUTYH variant that could be reinterpreted in the next future. Conclusion: Several efforts are necessary to fully elucidate the genetic etiology of suspected MAP patients, especially those with the most severe polyposis/tumor phenotype. Clinical data, tumor molecular profile, family history, and polyposis inheritance mode may guide variant interpretation and address supplementary studies.
MeSH term(s)	Adenomatous Polyps/diagnosis ; Adenomatous Polyps/etiology ; Alleles ; Biomarkers ; Computational Biology/methods ; DNA Glycosylases/genetics ; Female ; Genes, APC ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Genomics/methods ; Genotype ; Humans ; Male ; Pedigree ; Promoter Regions, Genetic
Chemical Substances	Biomarkers ; DNA Glycosylases (EC 3.2.2.-) ; mutY adenine glycosylase (EC 3.2.2.-)
Language	English
Publishing date	2021-10-26
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.1831
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