Search results for "Microsatellite"

Understanding the clinical behavior of relapsed colon cancers with microsatellite instability relative to BRAF mutations

2019

Background Microsatellite instable/deficient mismatch repair (MSI/dMMR) metastatic colorectal cancers have been reported to have a poor prognosis. Frequent co-occurrence of MSI/dMMR and BRAFV600E complicates the association. Patients and methods Patients with resected stage III colon cancer (CC) from seven adjuvant studies with available data for disease recurrence and MMR and BRAFV600E status were analyzed. The primary end point was survival after recurrence (SAR). Associations of markers with SAR were analyzed using Cox proportional hazards models adjusted for age, gender, performance status, T stage, N stage, primary tumor location, grade, KRAS status, and timing of recurrence. Results A…

Molecular characterisation of Sicilian Prunus persica cultivars using microsatellites

2005

In Sicily, a large indigenous population of cultivated peaches, nectarines, and platicarpa (flat peaches) shows a wide range of fruit quality and ripening periods. This diverse assortment of local cultivars is a resource, not yet exploited, for breeding programmes. The main purpose of this study was to fingerprint these indigenous accessions and to evaluate the molecular diversity between them. Forty indigenous and nine international accessions were analysed using 15 microsatellite, simple sequence repeat (SSR), markers. Some of the main morphological characteristics, such as flower type, petiole gland shape, flesh colour, and fruit ripening time, of these cultivars were also recorded. The …

Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise.

2015

Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs, including those conventionally used in forensic casework, have been demonstrated to improve the resolution of male lineage differentiation and to allow male relative separation usually impossible with standard Y-STRs. However, large and geographically-detailed frequency haplotype databases are required to estimate the statistical weight of RM Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian Working Group (GEFI) of the International Society for Forensic Genetics launched a collaborative ex…

Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines.

2013

J. Balmana1, F. Balaguer2, A. Cervantes3 & D. Arnold4, on behalf of the ESMO Guidelines Working Group* Department of Medical Oncology, Hospital Vall d’Hebron, Vall d’Hebron Institute of Oncology (VHIO), Universitat Autonoma de Barcelona, Barcelona; Department of Gastroenterology, Hospital Clinic, CIBERehd, IDIBAPS, University of Barcelona, Barcelona; Department of Hematology and Medical Oncology, INCLIVA, University of Valencia, Valencia, Spain; Department of Medical Oncology, Tumor Biology Clinic, Albert Ludwigs University, Freiburg, Germany;

Avian Clock gene polymorphism: evidence for a latitudinal cline in allele frequencies

2007

In comparison with most animal behaviours, circadian rhythms have a well-characterized molecular genetic basis. Detailed studies of circadian clock genes in 'model' organisms provide a foundation for interpreting the functional and evolutionary significance of polymorphic circadian clock genes found within free-living animal populations. Here, we describe allelic variation in a region of the avian Clock orthologue which encodes a functionally significant polyglutamine repeat (ClkpolyQcds), within free-living populations of two passerine birds, the migratory bluethroat (Luscinia svecica) and the predominantly nonmigratory blue tit (Cyanistes caeruleus). Multiple ClkpolyQcds alleles were foun…

HSP110 promotes colorectal cancer growth through STAT3 activation.

2017

IF 7.932; International audience; Heat shock protein 110 (HSP110) is induced by different stresses and, through its anti-apoptotic and chaperoning properties, helps cells survive these adverse situations. In colon cancers, HSP110 is abnormally abundant. We have recently shown that colorectal cancer patients with microsatellite instability (MSI) had an improved response to chemotherapy because they harbor an HSP110-inactivating mutation (HSP110DE9). In this work, we used patient biopsies, human colorectal cancer cells grown in vitro and in vivo (xenografts), and intestinal crypts to demonstrate that HSP110 is also involved in colon cancer growth. We showed that HSP110 induces colon cancer ce…

APPROACHES TO STUDY BIODIVERSITY AND SALINITY TOLERANCE MECHANISMS IN MEDITERRANEAN FRUIT TREE SPECIES

Changes in global climate are going to increase the problem of drought and soil salinity in the Mediterranean area, where increases in temperature, drought and soil and water salinity are expected. Identification of plant genotypes with positive agronomic traits, such as salt tolerance, may reduce the effects of salinity and drought on productivity. Therefore, there is considerable effort being directed toward the development of salt-tolerant genotypes through plant breeding, with the aim to the introgression of salt-tolerance traits into new cultivars. The results presented in this thesis contributed to the develop of new tools to improve knowledge on the biodiversity and salinity toleranc…

The Sicilian peach (Prunus persica L. Batsch) germplasm: Evaluation of genetic diversity using SSRs

2006

The decrease in worldwide consumption of peaches due to the poor flavour quality of the fruit has increased the demand for new tasty cultivars. The availability of plant genetic resources is an important prerequisite for improving fruit quality by breeding. In Sicily there is a large collection of local cultivated peaches, whose production fills a niche in the local markets, but which is at risk of disappearing. Their characteristics include highly aromatic fruit and late ripening. Because of their important agronomic characteristics, the Department of Colture Arboree of Palermo University has collected the most interesting accessions to safeguard them and to use the indigenous resources in…

An investigation of the self- and inter-incompatibility of the olive cultivars 'Arbequina' and 'Koroneiki' in the Mediterranean climate of Sicily

2016

In this investigation, the self-(in)compatibility of the Spanish cultivar Arbequina and the Greek cultivar Koroneiki was studied for the first time in Sicily, where these low vigour cultivars were recently introduced in super-intensive olive groves. Self- (S.P.) and openpollination (O.P.) tests, observation of fruit set and paternity test of seeds with microsatellite (SSR) markers, were performed to ascertain whether these cultivars were self-fertile and/or inter-compatible. For S.P. tests, branches with flowers at the balloon stage were bagged. For the O.P. tests, flowers were left to pollinate under natural conditions. Fruits from S.P. and O.P. were collected in November and fruit set was…

Recovery and genotyping ancient Sicilian monumental olive trees

2023

The long-lived and evergreen olive tree dominates the Mediterranean landscape, representing an agroecological and cultural symbol and a genetic heritage of inestimable value. Sicily, for historical, geographical, and cultural reasons, has a very rich and distinctive olive germplasm. In this work, a large survey was conducted to discover, collect, and characterize the genetic diversity of centennial monumental olive trees from historical sites, such as the Greek Temple Valley (Agrigento), ancient gardens, or farmland present in the western part of the island. Trees were chosen based on their height, trunk, stump size, and presumed age; particularly, only olive trees with an age estimated at …