Search results for "CA1"

Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.

2021

Abstract Background There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This study determined the prevalence and association of mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 with the risk of BOTs. Methods The study group consisted of 102 patients with histologically confirmed BOT and 1743 healthy controls. In addition, 167 cases with ovarian cancer G1 were analyzed. The analyses included genotyping of 21 founder and recurrent mutations localized in 5 genes (BRCA1, BRCA2, PALB2, RAD51C, and CHEK2). The risk for developing BOT and low-gra…

Identification and Characterization of BRCA1 and BRCA2 Founder Mutations

2012

A large number of cancer predisposing BRCA1/BRCA2 mutations have been reported, with a wide variety among populations. In some restricted groups, specific germline mutations in these tumor suppressor genes have been found with high predominance, due to a founder effect. We focused our review on the Italian founder mutations. The first Italian BRCA1 founder mutation, 5083del19, was found in Calabria: the presence of common allele in all carriers of this mutation (also in families with Calabrian origin living in other parts of Italy) confirmed its founder effect. The same BRCA1 mutation was identified in the Sicilian population, but only the haplotype analysis can reveal the common ancestor o…

Effects of low frequency electric fields on synaptic integration in hippocampal CA1 pyramidal neurons: implications for power line emissions

2014

The possible cognitive effects of low frequency external electric fields, such as those generated by power lines, are poorly understood. Their functional consequences for mechanisms at the single neuron level are very difficult to study and identify experimentally, especially in vivo. The major open problem is that experimental investigations on humans have given inconsistent or contradictory results, making it difficult to estimate the possible effects of external low frequency electric fields on cognitive functions. Here we investigate this issue with a realistic model of hippocampal CA1 pyramidal neurons. The model suggests how and why external electric fields, with environmentally obser…

Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Itali…

2022

Constitutional BRCA1/BRCA2 pathogenic or likely pathogenic variants (PVs) are associated with an increased risk for developing breast and ovarian cancers. Current evidence indicates that BRCA1/2 PVs are also associated with pancreatic cancer, and that BRCA2 PVs are associated with prostate cancer risk. The identification of carriers of constitutional PVs in the BRCA1/2 genes allows the implementation of individual and family prevention pathways, through validated screening programs and risk-reducing strategies. According to the relevant and increasing therapeutic predictive implications, the inclusion of BRCA testing in the routine management of patients with breast, ovarian, pancreatic and…

ABC A-subclass proteins: Gatekeepers of cellular phospho- and sphingolipid transport

2007

During the past years, available evidence suggests that members of a novel family of structurally highly related multispan proteins, designated ABC A-subclass transporters, exert critical functions in the control of cellular lipid transport processes. Loss-of-function scenarios, thus far, have revealed pivotal roles of individual ABC A-transporters in specialized lipid secretory pathways of the cell including HDL biogenesis (ABCA1), lung surfactant production (ABCA3), retinal integrity (ABCA4/ABCR) and skin lipid barrier formation (ABCA12). Although the specific transporter activities of many members of this novel protein family have not yet been established in detail, available evidence in…

MOLECULAR ANALYSIS OF BRCA1/2 GENES AND MULTIGENE-PANEL TESTING IN SICILIAN TRIPLE NEGATIVE BREAST CANCER

Tumor-infiltrating lymphocytes and breast cancer: Beyond the prognostic and predictive utility

2017

The importance of the immune system as a potent anti-tumor defense has been consolidated in recent times, and novel immune-related therapies are today demonstrating a strong clinical benefit in the setting of several solid neoplasms. Tumor-infiltrating lymphocytes reflect the attempt of the host to eradicate malignancies, and during the last decades, they have been shown to possess an interesting prognostic utility for breast cancer, especially in case of HER2 positive and triple-negative molecular subtypes. In parallel, the clinical evaluation of tumor-infiltrating lymphocytes has been shown to effectively predict treatment outcomes in both neoadjuvant and adjuvant settings. Currently, tu…

Estudio de la densidad mamográfica como modificador de riesgo de cáncer de mama en mujeres con mutación BRCA1/2

2015

El cáncer de mama es el tumor más frecuente en la mujer y uno de los problemas de salud más importante por los índices de mortalidad y morbilidad asociados. Los factores de riesgo más frecuentes para desarrollar esta enfermedad son la historia familiar y la edad de la mujer. En un 5-10% de la población con cáncer de mama se detecta un tumor hereditario debido a una mutación heredada de los padres. Actualmente, la alta densidad mamográfica medida en las mamografías, se considera un factor de riesgo para desarrollar cáncer de mama en la población general, pero su efecto en las mujeres portadoras de mutación en los genes BRCA1 y BRCA2 no se conoce con claridad. El propósito de este estudio es …

Dysfunction of Torr causes a Harlequin-type ichthyosis-like phenotype in Drosophila melanogaster

2019

AbstractPrevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major role in protection against exaggerated water loss. Here, we report that the ABC transporter Torr - a human ABCA12 paralog - contributes to the waterproof barrier function of the cuticle in the fruit fly Drosophila melanogaster. We show that the reduction or elimination of Torr function provokes rapid desiccation. Torr is also involved in defining the inward barrier against xenobiotics penetration. Consistently, the amounts of cuticular hydrocarbons that are involved in cuticle impermeability decrease markedly when Torr activity is redu…

Nab-paclitaxel in pretreated metastatic breast cancer: evaluation of activity, safety, and quality of life

2019

Rossella De Luca,1 Giuseppe Profita,2 Giuseppe Cicero1 1Department of Surgical, Oncological and Oral Sciences, Section of Medical Oncology, University of Palermo, Palermo, Italy; 2Department of Surgical, Oncological and Oral Sciences, Section of Surgical, University of Palermo, Palermo, Italy Objective: Metastatic breast cancer (MBC) is an incurable disease; the treatment of this disease prolongs survival, improving the quality of life (QoL) with a balance between efficacy and toxicity of the treatment. In recent years, treatment with nab-paclitaxel has improved the already known antitumor activity of conventional paclitaxel, in terms of increased efficacy and better tolerability. The aim o…