1,721,481 research outputs found
High-grade ER-negative tumour breast cancers are characteristic of both very young onset cases and patients with hereditary breast cancer
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Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe 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
Use of Pyrosequencing technology to quantitate allele expression in patients with BRCA1 mutations
No full textNeuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?
No full textA BRCA1 5382insC mutation was identified in a family with multiple cases of breast and ovarian cancer and eastern European ancestry. Predictive genetic testing was offered to all family members after standard genetic counselling within the regional clinical genetics service
Clinical impact of constitutional genomic testing on current breast cancer care
No full textThe most commonly diagnosed cancer in women worldwide is cancer of the breast. Up to 20% of familial cases are attributable to pathogenic mutations in high-penetrance (BReast CAncer gene 1 [BRCA1], BRCA2, tumor protein p53 [TP53], partner and localizer of breast cancer 2 [PALB2]) or moderate-penetrance (checkpoint kinase 2 [CHEK2], Ataxia-telangiectasia mutated [ATM], RAD51C, RAD51D) breast-cancer-predisposing genes. Most of the breast-cancer-predisposing genes are involved in DNA damage repair via homologous recombination pathways. Understanding these pathways can facilitate the development of risk-reducing and therapeutic strategies. The number of breast cancer patients undergoing testing for pathogenic mutations in these genes is rapidly increasing due to various factors. Advances in multigene panel testing have led to increased detection of pathogenic mutation carriers at high risk for developing breast cancer and contralateral breast cancer. However, the lack of long-term clinical outcome data and incomplete understanding of variants, particularly for moderate-risk genes limits clinical application. In this review, we have summarized the key functions, risks, and prognosis of breast-cancer-predisposing genes listed in the National Health Service (NHS) England National Genomic Test Directory for inherited breast cancer and provide an update on current management implications including surgery, radiotherapy, systemic treatments, and post-treatment surveillance.</p
BRCA1 mutation and neuronal migration defect: Implications for chemoprevention
No full textPreviously we described a BRCA1 carrier with a neuronal migration defect and postulated that the brain abnormality was caused by functional nullisomy for BRCA1.1 We now describe another family in which a similar type of neuronal migration defect has occurred in one of female identical twins with a BRCA1 gene mutation (MIM 113705). One twin developed unusually early onset multiple primary breast cancers while the second twin remains cancer free over a decade later. The second twin had long standing epilepsy and focal subcortical heterotopia. We hypothesise that the neuronal migration defect is due to focal nullisomy of the BRCA1 and that the modified breast cancer risk is due to the anti-oestrogenic effects of long term anticonvulsant therapy
Variations on the Author
Full text link“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
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