BRCA1 missense variants of uncertain clinical significance in unaffected and breast/ovarian cancer of the Sicilian population.

Analysis of Germline Gene Copy Number Variants of Patients with Sporadic Pancreatic Adenocarcinoma Reveals Specific Variations

<b><i>Objectives:</i></b> The rapid fatality of pancreatic cancer is, in large part, the result of diagnosis at an advanced stage in the majority of patients. Identification of individuals at risk of developing pancreatic adenocarcinoma would be useful to improve the prognosis of this disease. There is presently no biological or genetic indicator allowing the detection of patients at risk. Our main goal was to identify copy number variants (CNVs) common to all patients with sporadic pancreatic cancer. <b><i>Methods:</i></b> We analyzed gene CNVs in leukocyte DNA from 31 patients with sporadic pancreatic adenocarcinoma and from 93 matched contr…

Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Sicilian family.

P16 ink4A, p53 alterations and S phase fraction are predictive of clinical outcome in laryngeal squamous cell carcinoma.