DNA aneuploidy, high SPF and specific p53 mutations are independent prognostic factors in colorectale cancer (CRC)

DNA-aneuploidy and high SPF and specific p53 mutations are independent prognostic factors in colorectal cancer (CRC).

Significance of P16INK4A hypermethylation gene in primary head/neck and colorectal tumors: it is a specific tissue event? Results of a 3-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study

Background Methylation of the p16 promoter is one of the most frequent mechanisms of gene inactivation; its incidence is extremely variable according to the type of tumor involved. Our purpose was to analyze the hypermethylation of the p16 promoter in laryngeal squamous cell carcinomas (LSCC), salivary gland (SG) tumors and in colorectal cancer (CRC), to detect any possible association with the clinicopathological features and to determine the prognostic significance of the p16 gene in the tumors analyzed. Patients and methods The hypermethylation of the p16 promoter was prospectively analyzed, by MSP, in a consecutive series of 64 locally advanced LSCC patients, in a consecutive series of …

TP53 Mutation in exon 5 and S-Phase Fraction but not Mutations in Ras gene family and DNA-ploidy are Indipendent prognostic indicators in Laryngeal Squamous Cell Carcinoma

4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).

Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these fa…

Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study.

Background Over 600 different pathogenic mutations have been identified in the BRCA1 gene. Nevertheless, numerous missense mutations of unknown biological function still exist. Understanding of biological significance of these mutations should help in genetic counselling to carriers and their families. Patients and methods A total of 104 patients with breast and/or ovarian cancer whose genetic counselling answered the criteria of the American Society of Clinical Oncology (ASCO 2003), were prospectively screened for mutations in all coding exons of the BRCA1 gene by automatic direct sequencing. Results During these mutational screening procedures one case presented three mutations classified…

TORRE DI LONDRA: DEMENZA FRONTO-TEMPORALE E DISTURBO DELL’ UMORE

Analysis of TP53, Ki-Ras and P16INK4A promoter methylation as potential prognostic factors in patients with colorectal cancer

Ductal Lavage: a valid method of risk assessment and of early diagnosis in breast cance

TP53 mutations are not prognostic indipendent indicators in bladder cancer

The prognostic role of TP53 mutations in advanced laryngeal squamous cell carcinoma (LSCC).

A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer

A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequen…

Analysis of Ki-ras mutations in stage I rectal carcinomas and respective regional lymphonodes

GENOTYPE ANALYSIS OF COLORECTAL CARCINOMAS THROUGH LASER PRESSURE CATAPULTING (LPC)

A study of a new germline mutation in BRCA1 gene in two Sicilian families: a founder mutation?

A missense mutation associated to early onset breast cancer in a sicilian woman.

Molecular detection of TP53, Ki-Ras and p16INK4A promoter methylation in plasma of patients with colorectal cancer and its association with prognosis. Results of a 3-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study

BACKGROUND:Despite the improvement in detection and surgical therapy in the last years, the outcome of patients affected by colorectal carcinoma (CRC) remains limited by metastatic relapse. The aim of this study was to investigate the presence of free tumor DNA in the plasma of CRC patients in order to understand its possible prognostic role. PATIENTS AND METHODS: Ki-Ras, TP53 mutations and p16(INK4A) methylation status were prospectively evaluated in tumor tissues and plasma of 66 CRC patients. RESULTS: In 50 of the 66 primitive tumor cases (76%) at least one significant alteration was identified in Ki-Ras and/or TP53 and/or p16(INK4A) genes. Eighteen of the 50 patients presented the same …

TP53 in exon 5 and s-Phase fraction but not mutations in Ras gen family and DNA-ploidy are indipendent indicators in laryngeal squamous cell carcinoma

Mutational analysis of BRCA1 gene in sicilian patient at risk for inherited breast and/or ovarian cancer: experience of reference center the biomolecular characterization of neoplasm and genetic screening of hereditary tumors.

BRCA1 germline mutations in Sicilian breast and/or ovarian cancer families and their implications for genetic counselling.

TP53 mutations are not prognostic independent indicators in bladder cancer.

Detection and quantification of mammaglobin in the blood of breast cancer patients: can it be useful as a potential clinical marker? Preliminary results of a GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study.

BACKGROUND: Mammaglobin is expressed mainly in mammary tissue, overexpressed in breast cancer (BC) and rarely in other tissue. The aim of this study was to assess the sensitivity and specificity of transcript MGB1 detection and to evaluate the role of MGB1 as potential clinical marker for the detection of disseminated cancer cells in the blood of BC patients. PATIENTS AND METHODS: A consecutive series of 23 BC tissues, 36 peripheral blood BC samples and 35 healthy peripheral blood samples was prospectively recruited to investigate MGB1 expression by means of a quantitative Real Time RT-PCR assay. RESULTS: MGB1 overexpression in tissue samples of BC patients is significantly associated only …

Molecular analysis of TP53, Ki-Ras and P16 methylation status in tissue and plasma of subjects affected by gastrointestinal cancer

TP53 mutation are not prognostic indipendent indicators in bladder cancer

TP53 and p16INK4A, but not H-KI-Ras, are involved in tumorigenesis and progression of pleomorphic adenomas.

The putative role of TP53 and p16INK4A tumor suppressor genes and Ras oncogenes in the development and progression of salivary gland neoplasias was studied in 28 cases of pleomorphic adenomas (PA), 4 cases of cystic adenocarcinomas, and 1 case of carcinoma ex-PA. Genetic and epigenetic alterations in the above genes were analyzed by Polymerase Chain Reaction/Single Strand Conformational Polymorphism (PCR/SSCP) and sequencing and by Methylation Specific-PCR (MS-PCR). Mutations in TP53 were found in 14% (4/28) of PAs and in 60% (3/5) of carcinomas. Mutations in H-Ras and K-Ras were identified in4%(1/28) and7% (2/28) of PAs, respectively. Only 20% (1/5) of carcinomas screened displayed mutatio…

TP 53, H-K-Ras, P16INK4A gene molecular analysis in salivary gland tumors.

Genotype analysis of colorectal carcinomas through laser pressare catapulting (LPC)

Recently, new chemotherapy agents which target the non-structural components of mitosis have been developed. An important protein involved in several mitotic phases is the Aurora-A protein. By means of the phosphorylation of different substrates, Aurora-A regulates the correct development of the various phases of mitosis. The kinase activity of this protein makes Aurora-A an excellent candidate as an oncogene. The first data of Aurora-A involvement in cancer regarded the identification of Aurora-A overexpression in primary breast and colon tumour samples. With regard to the predictive role of Aurora-A, it has been shown that its overexpression disrupts the spindle checkpoint activated by pa…

TP53, H-K-RAS, P16INK4A GENE MOLECULAR ANALYSIS IN SALIVARY GLAND TUMORS

Analysis of Ki-Ras mutations in stage I rectal carcinomas and respective regional lymph nodes.

In this work we show that the percentage of Ki-RAS mutations in codons 12 and 13 in rectal cancer are sensibly lower than in colon cancer, providing further evidence that these two kinds of tumors should be considered two different entities. Moreover, we show that the detection in regional lymph nodes of the same mutation of primary tumor might represent an indicator of lymph nodes metastasis in rectal carcinoma not detected in routine histologic examination.

Detection of free-circulating tumor DNA in plasma of patients with gastrointestinal cancer.

DNA-Aneuploidy, High SPF and Specific P53 Mutations are Indipendent Prognostic Factors in Colorectal Cancer (CRC)

A.Mutational analysis of BRCA1 in sicilian patients at risk for inherited of reference center for the biomolecular characterizaztion of neoplasm and genetic screening of hereditary tumors

Molecular analysis of TP53, Ki-Ras and P16 methylation status in tissue and plasma of subjects affected by gastrointestinal cancer (GIC)

BACKGROUND: Despite the improvement in detection and surgical therapy in the last years, the outcome of patients affected by colorectal carcinoma (CRC) remains limited by metastatic relapse. The aim of this study was to investigate the presence of free tumor DNA in the plasma of CRC patients in order to understand its possible prognostic role. PATIENTS AND METHODS: Ki-Ras, TP53 mutations and p16(INK4A) methylation status were prospectively evaluated in tumor tissues and plasma of 66 CRC patients. RESULTS: In 50 of the 66 primitive tumor cases (76%) at least one significant alteration was identified in Ki-Ras and/or TP53 and/or p16(INK4A) genes. Eighteen of the 50 patients presented the same…

Asbestos: decontamination works and use of individual protection devices. Some remarks on the right use of IPD, considering the cost-benefit relation

BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses.

PURPOSE: To evaluate the contribution of germline BRCA1 mutations in the incidence of hereditary and familial Breast Cancer (BC) and/or Ovarian Cancer (OC) in patients from Southern Italy (in the region of Sicily) and to identify a possible association between the higher frequency of BRCA1 mutations and a specific familial profile. EXPERIMENTAL DESIGN: A consecutive series of 650 patients with BC and/or OC diagnosed between 1999 and 2005 were recruited from the Southern Italian region of Sicily, after interview at the "Regional Reference Centre for the Characterization and Genetic Screening of Hereditary Tumors" at the University of Palermo. Genetic counselling allowed us to recruit a total…

Mutational analysis of BRCA1 gene in sicilian patients at risk for inherited breast and/or ovarian cancer: experience of reference centre for the biomolecular characterization of neoplasms and genetic screening of hereditary tumors.

TP53 mutations and microsatellite instability are prognostic factors in gastric cancer?

Some precautionary remarks about people exposed to chemical risks in dry- cleaners

Ductal lavage: a way of carefully tracing the breast-secreting duct

Background: Breast cancer is the most commonly diagnosed neoplasia in women after nonmelanoma skin tumors. Unfortunately, present-day diagnostic methods are unable to identify the presence of a cancer until it has been developing for several years. Currently, ductal lavage seems to represent a new method of reaching an early diagnosis of breast cancer. Materials & methods: This study analyzed 30 patients with ages ranging from 40 to 55 years; and in 26 of these patients, we were able to obtain a sufficient quantity of material for cytological and biomolecular analysis. Results & conclusion: We propose an easy, reproducible method that makes it possible to obtain a detailed map of the nipple…

TP53, Ki-Ras and P16INK4A gene molecular analysis in salivary gland tumors.

TP53 mutations and S-Phase fraction are independent prognostic indicators in locally advanced laryngeal squamous cell carcinoma

Larynx tumor is a rare neoplasia that represent only the 2% of all human tumor. In particular, the 90% of tumor that occur in this organ correspond to the laryngeal squamous cell carcinoma (LSCC). From the biomolecular point of view, it was shown that the TP53 gene mutations are the most common events observed in the early phases of LSCC carcinogenesis. However, them prognostic significance remains controversial. Besides, the prognostic significance of DNA ploidy has been well established for other solid tumors, but its role in LSCC is still controversial. The aim of this study was, therefore, to prospectively evaluate the prognostic significance of TP53 mutations, DNA-ploidy and S-phase fr…