1,720,974 research outputs found
Malignant melanoma Clustering with some familial/hereditary tumors
No full textGermline mutations of the CDKN2 and CDK4 genes that are involved in the cell cycle regulation, have been associated with malignant melanoma (MM). However, these mutations have been detected only in some cases of familial MM, particularly in Sweden and in Italy, which suggests that other genes are involved in the pathogenesis of hereditary MM. Few data are available about the clustering between MM and familial or hereditary tumours (e.g. breast cancer, ovarian cancer, colon cancer, pancreatic cancer). In this respect, the Breast Cancer Linkage Consortium reported that carriers of germline mutations in the BRCA2 predisposing gene have a significantly increased risk for MM (RR = 2.58; 95% CI = 1.28-5.17). The aim of the present study was to determine the family history of 342 consecutive cases of MM observed from 1994 to date. Specifically, we looked for: MM associated with other malignant neoplasias; familial clustering of MM; and a family history of cancer. Malignant melanoma was associated with other tumours in 20/342 patients (5.84%); a history of MM was associated to a positive family history of cancer in 31/342 cases (9.06%); and familial clustering of MM was detected in 22/342 (6.4%) of the consecutive series of patients analysed. The pedigree of patient who have a family history of MM or other cancers is being constructed
Management of patients with BRCA1/2-associated breast cancer
No full textBRCA1/2-related breast cancers (BC) can be considered a separate entity compared to sporadic ones. Current
knowledge suggests that the overall management is different. Herein, the different topics of management
of BRCA1/2-associated BC are considered including cancer genetic counseling, surveillance, chemoprevention,
prophylactic surgery, oncological treatment and psychosocial aspects. Cancer genetic counseling is a specific
modality for the management of at-risk subjects that foresees a multidisciplinary approach and patientsfocused
interventions. An integrated multidisciplinary approach in cancer genetic counseling (CGC) is required
to support women with high inherited risk of developing hereditary cancers in the complex decisions related
to cancer risk management choice. Surveillance for at-risk body sites should be integrated to the conventional
oncological follow-up of BC patients and offered to the healthy family members. Chemoprevention and
prophylactic surgery are viable options of cancer risk management. Particularly, prophylactic surgery can be
considered an effective strategy for BRCA1/2 mutation carriers, because of a significant reduction of BC and
ovarian cancer risk. Promising findings concern specific oncological treatment, including also target therapies
in this setting. It is necessary that during CGC process the subject at-risk takes an active role, facilitated by a
personalized approach and a focus on the patient’s emotional state. A patient-centered approach by a biopsychosocial
perspective is needed for the taking charge of at-risk women
Retrospective Analysis of Familial Clustering for Malignant Melanoma
No full textBackground: Malignant Melanoma (MM) is familial in 5-7% of cases. Germline mutations of the CDKN2 and CDK4 genes are involved in the pathogenesis of hereditary MM, but the high frequency of familial clustering suggests other genes involved. MM seems to cluster with hereditary syndrome such as Hereditary Breast/Ovarian Cancer (HBOC). In this respect, some authors reported that carriers of BRCA 2 germline mutations have a significantly increased risk for MM (RR: 2.58).
Aims: We investigate family history of MM patients to define the familial clustering for MM and history for othe tumours.
Methods: We retrospectively analysed family of 342 consecutive MM cases referred from 1994 to 2002 to the “Gruppo Melanoma”, Azienda Universitaria Policlinico, University “Federico II” of Naples. We divided the cases into four subsets: 1) multiple MM; 2) MM aggregated with other tumours in the proband; 3) MM with a family history of MM; and 4) MM with a family history of other tumours. We collected the pedigree, after informed consent, in all cases with a family history of MM or other tumours.
Results: data analysis showed: multiple MM in 5/342 cases (1.46%); MM aggregated with other tumours in the proband in 10/342 cases (2.9%); MM with a family history of MM in 13/342 cases (3.8%) and MM with a family history of other tumours in 28/342 cases (8.2%). We propose pedigree construction to 41 subjects: we collected 23 pedigrees, 14 pedigree are ongoing, while 4 cases refused their consent.
Conclusion: Patient affected by Malignant Melanoma seems to be at increased risk to develop other tumours and healthy individuals belonging to families with a high clustering for malignant melanoma and other tumours could be at risk for cancers
Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer
No full textEarly-onset or hereditary ovarian cancer is mostly associated with BRCA1 or BRCA2 mutations. Mismatch repair genes sequence alteration frequently cause colorectal cancer, and, in less extent, other tumors, such as ovarian cancer. Subjects with personal and/or family history suggestive for hereditary cancer should be addressed to cancer genetic counseling. The multistep Cancer Genetic Counseling model, adopted at our unit, is aimed to identification, definition and management of hereditary cancer syndrome, by a multidisciplinary approach. A woman with a very early onset epithelial ovarian cancer underwent to cancer genetic counseling and genetic testing. Two germ-line mutations have been identified in exon 11 of MSH2 gene: c.1706A>T (p.Glu569Val) and c.1711G>T (p.Glu571*). Both DNA alterations were novel mutations not yet described in literature. The first is a missense mutation that is to be considered an unclassified variant; the second is nonsense mutation that created a premature stop codon resulting in a truncated not functioning protein. In conclusion, the present report finds out two unpublished sequence alterations in exon 11 of the MSH2 gene, one on which can be considered causative of Lynch phenotype, and stresses the importance of the onco-genetic counselling in order to offer the most appropriate management of the cancer risk for the patients and her family members
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
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