Publications by authors named "I Carnevali"

Background: The clinical utility of germline and testing is well established in patients with family history suggestive for hereditary breast and ovarian cancer syndrome. Recently, germline pathogenic variants were also associated with an increased risk of breast and other cancers and, in the Italian population, it has been described in few studies without a systematic germline analysis of , and .

Objectives And Methods: In this study, we described ASST Sette Laghi cancer genetic counselling services' experience in the analysis of 402 patients with suspected breast and ovarian cancer syndrome, by using , and germline genetic test.

View Article and Find Full Text PDF

Epithelial ovarian cancers (EOC) associated with germline or somatic BRCA pathogenetic variants have a significantly higher rate of TP53aberrations. The majority of TP53 mutations are detectable by immunohistochemistry and several studies demonstrated that an abnormal p53 pattern characterized high-grade EOCs. An abnormal p53 immunohistochemical staining in fallopian tube (serous tubal intraepithelial carcinoma (STIC) and "p53 signature" is considered as a precancerous lesion of high-grade EOCs and it is often found in fallopian tube tissues of BRCA germline mutated patients suggesting that STIC is an early lesion and the TP53 mutation is an early driver event of BRCA mutated high-grade EOCs.

View Article and Find Full Text PDF

Iron deficiency anaemia (IDA) is the most prevalent worldwide nutrient deficiency-related disease. The 30% of IDA female patients is represented by non-pregnant women and the 42% are pregnant women. Oral iron supplementation represents the first-line treatment for IDA.

View Article and Find Full Text PDF

(1) Background: hypermethylation is an epigenetic alteration in the tumorigenesis of colorectal cancer (CRC) and endometrial cancer (EC), causing gene silencing, and, as a consequence, microsatellite instability. Commonly, hypermethylation is considered a somatic and sporadic event in cancer, and its detection is recognized as a useful tool to distinguish sporadic from inherited conditions (such as, Lynch syndrome (LS)). However, hypermethylation has been described in rare cases of CRC and EC in LS patients.

View Article and Find Full Text PDF

Introduction: methylated () epithelial ovarian cancer (EOC) is a recently defined and not well-investigated subset of neoplasms. To date, no studies have focused on the transcriptional profiles of cases, and, as a matter of fact, we still do not know if this subset of EOCs is similar, and to what extent, to mutated () cases.

Methods: We compared a group of 17 cases against 10 cases using a subset of carefully selected 17 EOCs as a control group.

View Article and Find Full Text PDF