Ilaria Spagnoletti's research while affiliated with Azienda Ospedaliera Universitaria Sassari and other places
What is this page?
This page lists the scientific contributions of an author, who either does not have a ResearchGate profile, or has not yet added these contributions to their profile.
It was automatically created by ResearchGate to create a record of this author's body of work. We create such pages to advance our goal of creating and maintaining the most comprehensive scientific repository possible. In doing so, we process publicly available (personal) data relating to the author as a member of the scientific community.
If you're a ResearchGate member, you can follow this page to keep up with this author's work.
If you are this author, and you don't want us to display this page anymore, please let us know.
It was automatically created by ResearchGate to create a record of this author's body of work. We create such pages to advance our goal of creating and maintaining the most comprehensive scientific repository possible. In doing so, we process publicly available (personal) data relating to the author as a member of the scientific community.
If you're a ResearchGate member, you can follow this page to keep up with this author's work.
If you are this author, and you don't want us to display this page anymore, please let us know.
Publications (10)
Although most BRCA sequence variants are clearly deleterious and unequivocally pathogenetic, several are still classified as variants of unknown significance.
We followed families undergoing oncogenetic counseling from risk identification to risk definition by genetic testing and risk management.
We identified two germline mutations in the BRCA2 ge...
Multiple factors are associated with an increased risk of developing breast cancer, including age, family history, exposure
to reproductive hormones, dietary factors, benign breast diseases, and environmental factors. Recently, increasing interest
has been devoted to the interaction between environmental and genetic factors. Family history has been...
We conducted a psychological assessment during oncogenetic counseling for hereditary breast/ovarian cancer. Anxiety and depression were assessed with the HAD scale, and family functioning and satisfaction with FACES III. HAD was administered at baseline (t
1), at risk communication (t
2), at genetic test result communication, or at first surveillan...
The expansion of triplet repeat microsatellite sequences is the molecular correlate of anticipation in a number of rare Mendelian neurodegenerative disorders. This finding prompted us to study these sequences in primary breast cancer in which there is evidence of genetic anticipation. We used a PCR/silver stain method to determine whether triplet-r...
Neuroendocrine tumors represent a heterogeneous category of neoplasm, with conflicting diagnostic and therapeutic demands. We here describe the case of a 72-yr-old woman with evidence of a poorly differentiated small-cell neuroendocrine carcinoma (NEC) localized in different endocrine glands and other non-endocrine organs. In particular, a large ov...
Inactivation of DNA mismatch repair genes (MRG) is a recently described pathway of cancer development and progression resulting in genetic instability. Germline mutations in MRG have been studied predominantly in patients with hereditary non-polyposis colorectal cancer (HNPCC) where it is associated with microsatellite instability (MSI). The expres...
Citations
... The significance of such deletions in the 13th and 23rd introns are unknown, despite being found in 11 and 3 samples, respectively. Previous research has suggested that variants in the splicing site of intron 13 altered the maturation of mRNA and may play a role in breast and ovarian cancer [28], but no definite associations in PC can be made. However, intronic variants newly discovered from GWAS studies rather than conventional exome-based analyses have been linked to cellular signaling and differentiation that ultimately result in PC progression [29], and as such, these novel mutations may play a role in metastatic conversion. ...
![[object Object]](https://i1.rgstatic.net/ii/profile.image/312260625403905-1451460142219_Q64/Matilde-Pensabene.jpg)
![[object Object]](https://i1.rgstatic.net/ii/profile.image/272701004709900-1442028394461_Q64/Maria-Caligo.jpg)
... While it is also possible that a well or intermediate component of the cancer is the reason for the benefit from the octreotide acetate treatment, the rapid development of liver metastases after his surgery and during the other therapies described argues in favor of the tumor component being inhibited by octreotide acetate being a PDNET component. One prior case of a PDNET did respond to octreotide acetate therapy, but that therapy involved concurrent cisplatin and etoposide use [6]. ...
![[object Object]](https://i1.rgstatic.net/ii/profile.image/11431281127152967-1678956088531_Q64/Libuse-Tauchmanova.jpg)
... Indeed, in BC cases with evidence of genetic anticipation, triplets of ATN (responsible Dentatorubral-Pallidoluysian Atrophy) and FXN (frataxin) genes were most frequently unstable (14 % of cases). TRI was defined an expansion or contraction in the length of one of the triplet repeats studied in tumor DNA with respect to blood DNA [59]. Furthermore, trinucleotide instabilities appear more frequently in lymph node metastases, advanced clinical stages, younger patients, tumor specimens negative for p53 [59]. ...
... As a result, cells begin to proliferate and differentiate indefinitely, eventually causing tumorigenesis. It's reported that people who positively express hMSH2 genes have a lower expression level of p53 compared with those who negatively express hMSH2 genes [34]. Speculating that the hMSH2 gene could be used as a protective factor, it might function via p53-dependent pathways. ...
... The measured scores in genetically affected individuals may be influenced by the baseline values of HADS-A and HADS-D scores [32,41] and distress [37,38]. Several factors may influence baseline values, and we have demonstrated that marital status, education level, and number of children may influence anxiety in pregnant women (not subjected to genetic testing). ...
