A5030134585- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Colorectal Cancer Screening and Detection
- BRCA gene mutations in cancer
- Colorectal Cancer Treatments and Studies
- DNA Repair Mechanisms
- Genomics and Rare Diseases
- Ovarian cancer diagnosis and treatment
- Genetic Syndromes and Imprinting
- Digestive system and related health
- Pituitary Gland Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- Colorectal and Anal Carcinomas
- RNA Research and Splicing
- Neurofibromatosis and Schwannoma Cases
- Nutrition, Genetics, and Disease
- Cancer-related molecular mechanisms research
- Endometrial and Cervical Cancer Treatments
- Epigenetics and DNA Methylation
- Adrenal and Paraganglionic Tumors
- Nuclear Structure and Function
- CRISPR and Genetic Engineering
- Family Support in Illness
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
Agostino Gemelli University Polyclinic
2001-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2019-2025
Università Cattolica del Sacro Cuore
2010-2024
Catholic University of America
2001-2021
Center for Genomic Science
2017-2021
Sapienza University of Rome
2009
Piedmont Reference Center for Epidemiology and Cancer Prevention
2006-2009
University of Florence
2003-2006
University of the Sacred Heart
2006
Istituto per lo Studio e la Prevenzione Oncologica
2006
8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during replication. When operating normally, the MUTYH glycosylase prevents 8-oxoguanine-related mutagenesis by excising incorporated adenine. Biallelic mutations impair this enzymatic function and are associated colorectal cancer (CRC) in MUTYH-Associated Polyposis (MAP) syndrome. Here, we perform whole-exome sequencing that reveals modest mutator phenotype MAP CRCs compared to sporadic...
The International Registry of Werner syndrome (www.wernersyndrome.org) has been providing molecular diagnosis the (WS) for past decade. present communication summarizes, from among 99 WS subjects, spectrum 50 distinct mutations discovered by our group and others since WRN gene (also called RECQL2 or REQ3) was first cloned in 1996; 25 these have not previously published. All reported thus far resulted elimination nuclear localization signal at C-terminus protein, precluding functional...
Abstract BACKGROUND The Muir–Torre syndrome (MTS) is an autosomal‐dominant genodermatosis characterized by the presence of sebaceous gland tumors, with or without keratoacanthomas, associated visceral malignancies. A subset patients MTS considered a variant hereditary nonpolyposis colorectal carcinoma, which caused mutations in mismatch‐repair genes. objective current study was to evaluate whether combined clinical, immunohistochemical, and biomolecular approach could be useful for...
Head and neck paragangliomas (HNPGLs) are neural crest-derived tumors. In comparison with located in the abdomen chest, which generally catecholamine secreting (sPGLs) sympathetic origin, HNPGLs are, fact, parasympathetic origin nonsecreting. Overall, 79 consecutive patients HNPGL were examined for mutations SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, MAX, TMEM127 genes by PCR/sequencing. According to a detailed family history (FH) clinical, laboratory (including metanephrines), instrumental...
67 Background: Several studies show that patients (pts) with colon cancer, particularly pts right cancer (RCC), have lower survival rates than those rectal cancer. This argues colorectal should be divided into three clinical entities: RCC, left (LCC) and (RC). In refractory metastatic (mCRC), regorafenib (R) trifluridine/piracil (T) were found to improve survival. real-life subgroup analysis focused on treatment R T, sequential or not, according the above primary tumor sites. Methods:...
One third of endometrial carcinomas (ECs) presents with mismatch repair deficiency (MMRd). Of these, 70 % are caused by somatic hypermethylation MLH1 promoter; the remaining cases determined Lynch syndrome or double inactivation MMR genes. Although associated good-intermediate prognosis, heterogeneity in treatment response and survival has been reported among MMRd ECs. We aim to investigate differences pathologic aggressiveness event-free (EFS) three EC subtypes, classified...
Hereditary nonpolyposis colorectal cancer (HNPCC) is frequently associated with constitutional mutations in a class of genes involved DNA mismatch repair. We identified 32 kindreds, germline one three hMSH2, hMLH1 or hMSH6. In this study, we purposed to evaluate how many high-risk individuals each family underwent genetic testing: moreover, assessed mutation-positive unaffected accepted colonoscopic surveillance and the main findings recommended follow-up. Families were through...
Abstract Sotos syndrome is characterized by pre‐ and post‐natal overgrowth, typical craniofacial features, advanced bone age, developmental delay. Some degree of phenotypic overlap exists with other overgrowth syndromes, in particular Weaver syndrome. caused haploinsufficiency the NSD1 (nuclear receptor SET domain containing gene 1) gene. Microdeletions involving are major cause Japanese patients, whereas intragenic mutations more frequent nonJapanese patients. aberrations have also been...
We report the clinicopathological, genetic, and immunohistochemical characterization of an atypical Turcot syndrome (TS) family with small bowel cancer. The tumor history a patient cafè-au-lait spots (CALS) early onset adenomas, duodenal cancer, glioblastoma was positive for colonic adenoma (mother), jejunal (maternal grandfather), lung (father), colorectal (paternal uncle) cancers. PMS2 genetic testing identified nonsense 1951C>T (Q643X) missense 161C>T (S46I) mutations. expression absent...
// Rossella Tricarico 1 , Salvatore Cortellino 2 Antonio Riccio 3 Shantie Jagmohan-Changur 4 Heleen Van der Klift 5 Juul Wijnen David Turner 6 Andrea Ventura 7 Valentina Rovella 8 Percesepe 9 Emanuela Lucci-Cordisco 10 Paolo Radice 11 Lucio Bertario Monica Pedroni 12 Maurizio Ponz de Leon Pietro Mancuso 1, 13 Karthik Devarajan 14 Kathy Q. Cai 15 Andres J.P. Klein-Szanto Giovanni Neri Pål Møller 16 Alessandra Viel 17 Genuardi Riccardo Fodde Alfonso Bellacosa Cancer Epigenetics...
Lynch Syndrome (LS) represents the hereditary condition that is most frequently associated with endometrial cancer (EC). The aim of this study to assess presence in young women mismatch repair (MMR)-deficient atypical hyperplasia (AEH) and non-myoinvasive FIGO G1 endometrioid EC its possible impact on outcome conservative treatment.Six MMR-deficient cases identified from a previous cohort 69 conservatively treated patients were selected be screened for germline mutations MMR genes. In each...
In this study we examined a series of 52 patients belonging to hereditary nonpolyposis colorectal cancer (HNPCC) or HNPCC-related families, all who had previously tested negative for mismatch repair (MMR) gene point mutations. Southern blot mutational screening MLH1 and MSH2 genes was carried out with the aim detecting large genomic rearrangements identifying molecular mechanisms underlying inactivation MMR genes. Three abnormal restriction patterns were found carry distinct internal...
To evaluate in current practice the performance of BOADICEA and BRCAPRO risk models empirical criteria based on cancer family history for selection individuals BRCA genetic testing.The probability mutation according to three tools was retrospectively estimated 918 index cases consecutively undergone testing at 15 Italian genetics clinics between 2006 2008.179 (19.5%) carried mutations. With strict use 173 (21.9%) mutations would have been detected 789 individuals. At commonly used 10%...