Impact of hormone receptor status and tumor subtypes of breast cancer in young BRCA carriers.

Background: Hormone receptor expression is a known positive prognostic and predictive factor in breast cancer; however, limited evidence exists on its prognostic impact on prognosis of young patients harboring a pathogenic variant (PV) in the BRCA1 and/or BRCA2 genes.

Patients And Methods: This international, multicenter, retrospective cohort study included young patients (aged ≤40 years) diagnosed with invasive breast cancer and harboring germline PVs in BRCA genes. We investigated the impact of hormone receptor status on clinical behavior and outcomes of breast cancer.

Pregnancy After Breast Cancer in Young BRCA Carriers: An International Hospital-Based Cohort Study.

Importance: Young women with breast cancer who have germline pathogenic variants in BRCA1 or BRCA2 face unique challenges regarding fertility. Previous studies demonstrating the feasibility and safety of pregnancy in breast cancer survivors included limited data regarding BRCA carriers.

Objective: To investigate cumulative incidence of pregnancy and disease-free survival in young women who are BRCA carriers.

Safety of assisted reproductive techniques in young women harboring germline pathogenic variants in BRCA1/2 with a pregnancy after prior history of breast cancer.

Background: Knowledge is growing on the safety of assisted reproductive techniques (ART) in cancer survivors. No data exist, however, for the specific population of breast cancer patients harboring germline BRCA1/2 pathogenic variants.

Patients And Methods: This is a multicenter retrospective cohort study across 30 centers worldwide including women diagnosed at ≤40 years with stage I-III breast cancer, between January 2000 and December 2012, harboring known germline BRCA1/2 pathogenic variants.

Beyond and : Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.

The 5-10% of breast/ovarian cancers (BC and OC) are inherited, and germline pathogenic (P) variants in DNA damage repair (DDR) genes and explain only 10-20% of these cases. Currently, new DDR genes have been related to BC/OC and to pancreatic (PC) cancers, but the prevalence of P variants remains to be explored. The purpose of this study was to investigate the spectrum and the prevalence of pathogenic variants in DDR pathway genes other than and to correlate the genotype with the clinical phenotype.

Pregnancy After Breast Cancer in Patients With Germline Mutations.

Purpose: Young women with germline mutations have unique reproductive challenges. Pregnancy after breast cancer does not increase the risk of recurrence; however, very limited data are available in patients with mutations. This study investigated the impact of pregnancy on breast cancer outcomes in patients with germline mutations.

Spectrum of Germline and Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Pathogenic variants (PVs) carriers in or are associated with an elevated lifetime risk of developing breast cancer (BC) and/or ovarian cancer (OC). The prevalence of and germline alterations is extremely variable among different ethnic groups. Particularly, the rate of variants in Italian BC and/or OC families is rather controversial and ranges from 8% to 37%, according to different reports.

Rapid detection of copy number variations and point mutations in genes using a single workflow by ion semiconductor sequencing pipeline.

Molecular analysis of (# and ( #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost-effective accurate strategy for the detection of pathogenic variants is crucial. Mutations detection of genes includes screening for single nucleotide variants (SNVs), small insertions or deletions (indels), and Copy Number Variations (CNVs).

Blood and sputum biomarkers in COPD and asthma: a review.

Chronic obstructive pulmonary disease (COPD) and asthma are lung inflammatory diseases that represent major public health problems. The primary, and often unique, method to evaluate lung function is spirometry, which reflects disease severity rather than disease activity. Moreover, its measurements strictly depend on patient's compliance, physician's expertise and data interpretation.

Implementation of smoking ban: a survey in a public hospital setting.

Smoking in hospitals is banned in most of European countries; nevertheless, implementing a total smoking ban is particularly difficult and policy breaches are frequent. Aim of our study was to monitor the compliance with the smoke-free policy within a hospital district by measuring particulate matters (PM2.5).

Targeted therapies and complete responses in first line treatment of metastatic renal cell carcinoma. A meta-analysis of published trials.

Antiangiogenic agents (AAs) have reported grater efficacy compared to interferon. Despite these advances, radiological complete response to therapy is rare. We meta-analyzed the incidence of complete response in patients treated with AAs and in controls in main randomized clinical trials for first-line therapy in metastatic renal cell carcinoma.

Use of discriminant analysis in assessing pulmonary function worsening in patients with sarcoidosis by a panel of inflammatory biomarkers.

Objectives And Design: To date, no sufficiently sensitive and specific single marker has been found to predict the clinical course of sarcoidosis. We designed a cohort study to investigate whether a panel of biomarkers measured in bronchoalveolar lavage (BAL) and peripheral blood could help predict pulmonary function worsening during the clinical course of sarcoidosis.

Methods: We analyzed 30 individuals with histologically proven sarcoidosis.

The combination of a smoking cessation programme with rehabilitation increases stop-smoking rate.

Objective And Study Design: A parallel group study to investigate the effectiveness of a smoking cessation programme performed during routine rehabilitation practice for outpatients.

Patients And Methods: The study participants comprised an intervention group of 102 consecutive smokers who underwent a smoking cessation programme in a rehabilitation centre and a control group of 101 consecutive smokers who were referred to a smoking cessation centre in a pulmonary hospital. All participants underwent physical examination,pulmonary function tests and received identical behavioural and/or pharmacological treatment.

Candidate target genes for loss of heterozygosity on human chromosome 17q21.

Loss of heterozygosity (LOH) on chromosome 17q21 has been detected in 30% of primary human breast tumours. The smallest common region deleted occurred in an interval between the D17S746 and D17S846 polymorphic sequences tagged sites that are located on two recombinant P1-bacteriophage clones of chromosome 17q21: 122F4 and 50H1, respectively. To identify the target gene for LOH, we defined a map of this chromosomal region.

Characterization of the human polymeric immunoglobulin receptor (PIGR) 3'UTR and differential expression of PIGR mRNA during colon tumorigenesis.

The human cell lines VACO-235 and VACO-411 constitute a novel in vitro model of colon adenoma to carcinoma progression. By differential display RT-PCR we identified a transcript that is expressed in the parental nontumorigenic adenoma line (VACO-235E), but is not expressed in the tumorigenic daughter (VACO-235L) or granddaughter (VACO-411) lines. This cDNA represents a previously uncharacterized portion of the 3'UTR of human PIGR.

p53 expression is decreased in primary breast carcinomas with microsatellite instability.

p53 and p185 expression in primary breast cancer with microsatellite instability (MSI) is still largely unexplored. To investigate the relationship between these oncoproteins and the pathways of genomic instability, we examined 52 primary invasive breast cancers stratified by the presence and absence of MSI. We determined the status of eight microsatellite loci using radioactive and silver staining methods, and evaluated the immunohistochemical expression of p53 and p185 in a consecutive series of Italian cancer patients characterized by clinical-pathological and biological parameters.

Differences in the ability of human T-cell lymphotropic virus type 1 (HTLV-1) and HTLV-2 tax to inhibit p53 function.

We have analyzed the functional activity of the p53 tumor suppressor in human T-cell lymphotropic virus type 2 (HTLV-2)-transformed cells. Abundant levels of the p53 protein were detected in both HTLV-2A and -2B virus-infected cell lines. The p53 was functionally inactive, however, both in transient-transfection assays using a p53 reporter plasmid and in induction of p53-responsive genes in response to gamma irradiation.

DNA ploidy and TLI in association with other prognostic parameters in breast cancer.

DNA ploidy and thymidine-labeling index (TLI) have been introduced as prognostic indicators to characterize the biological behavior of breast cancer for the selection of patients eligible for adjuvant therapy. The aim of this study was to evaluate the prognostic significance and correlation between ploidy status, TLI and other common histopathologic parameters such as histotype, stage, grading, lymph node metastasis, hormone receptors and recurrence. DNA ploidy and TLI were assessed for 68 breast cancer patients, 27 to 85 years of age.

Microsatellite instability in gastric cancer is associated with tumor location and family history in a high-risk population from Tuscany.

We studied the presence of microsatellite instability (MSI) in a series of 108 gastric cancers (GCs) previously identified in an epidemiological study carried out in a high-risk area around Florence. To investigate associations between MSI and GC family history, 34 cases (31.5%) who had a GC-affected first-degree relative were included in the series.

Evaluation of response to chemotherapy in patients affected with non-small cell lung cancer by means of three tumour markers elaborated by discriminant analysis.

Chemotherapy is the most effective treatment for inoperable patients (70%) affected with non-small cell lung cancer (NSCLC). The early detection of tumour progression is mandative in order to promptly shift these patients towards salvage or supportive therapy. The present authors investigated the clinical value of a panel of tumour markers, elaborated by means of discriminant analysis, as a follow-up indicator for the detection of tumour progression.

Microsatellite instability is correlated with lymph node-positive breast cancer.

We analyzed 81 cases of primary breast carcinoma and 7 cases of fibroadenoma for microsatellite instability at eight loci. Twenty-seven cases (33.3%) manifested aberrant microsatellite alleles: 7 (8.