Chapters authored
Noncoding RNAs in Gallbladder Cancer
Gallbladder cancer (GBC) is the most frequent malignancy of the biliary tract, representing about 85–90% of the cancers involving this anatomical district; it is characterized by high mortality rates with less than 10% of the sufferers surviving more than 5 years. Extensive scientific research is needed in order to identify biomarkers for early diagnosis, improve the treatment options available, and assess new effective therapies. Consistent improvements have been made in recent years in the field of noncoding RNAs. More than 90% of the human genome is constituted by a noncoding portion that actively transcribes an enormous and complex amount of RNA, while only approximately 2% represents the coding genes. Noncoding RNAs are divided into two categories in accordance with their dimensions: small RNAs, which are made by less than 200 nucleotides, and long RNAs, which are bigger. MicroRNAs (miRNAs) and long noncoding RNA (lncRNAs) are the main subclasses, respectively, which concentrate consistent scientific efforts in recent times with promising results in several diseases, including cancer. In this review, we summarize the roles of miRNAs and lncRNAs in gallbladder cancer pathophysiology and their possible translational implication in the diagnosis and treatment of this aggressive disease.
Part of the book: Updates in Gallbladder Diseases
Epidemiology and Genetic Susceptibility of Breast and Ovarian Cancer in Sardinian Population
The objective of this population-based study is to describe epidemiological and genetic features of breast and ovarian cancer in North Sardinia, Italy. Patients who carry a high-risk mutation in one or both of the BRCA genes (BRCA1 or BRCA2) have a significantly increased risk of developing breast/ovarian cancer (BOC) and other cancers (e.g., prostate cancer in male). Epidemiological data on incidence distribution of breast/ovarian cancer from 2016 to 2019 in North Sardinia are obtained from the local tumor registry and from the cumulative results of 209 genetic testing for BRCA gene mutations performed in all young breast cancer patients and all women (over 50 years) with family history of BOC (total of 164 cases); further, 45 genetic testing is performed, on ovarian cancer patients, at any age. The results provide a different distribution of fraction mutations carried by women and a higher prevalence of the BRCA2 mutation in the north of Sardinia than the entire population and highlight the presence of specific germline mutation associated with the “founder effect” in distinct genetic subgroups reflecting genetic drift. Advances in next-generation sequencing technology, data analysis, and clinical investigation have revolutionized efforts to identify potential targets for BRCA molecular-based therapeutic agents.
Part of the book: Breast Cancer and Breast Reconstruction