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This study aims to analyze, from the perspective of de-medicalization, prenatal care in the private health sector. It is an integrative review with search for data between August and October 2019 in the Medline / PubMed, Web of Science, Editora Elsevier reference base, Nursing Database and Scientific Electronic Library Online. 15 articles were selected as the final sample for data analysis. It was identified that the private network offers easier access, facilities, a greater number of consultations, but an excessive performance of exams. Thus, it appears from this scenario that there is a medicalization of health care, marked by the excessive use of technology and decision-making power by health professionals. In view of this, it is concluded that demedicalization is incipient in prenatal care in the private health network. Thus, it is necessary to reflect on the decision-making role of women in the sense of powerful provocations to contribute to the reorganization of the way of health care in the private sector. Este estudio tiene como objetivo analizar, desde la perspectiva de la desmedicalización, la atención prenatal en la red de salud privada. Esta es una revisión integradora con búsqueda de datos entre agosto y octubre de 2019 en Medline / PubMed, Web of Science, base de referencia Editora Elsevier, Base de datos de enfermería y Biblioteca electrónica científica en línea. Se seleccionaron 15 artículos como muestra final para el análisis de datos. Se identificó que la red privada ofrece un acceso más fácil, instalaciones, un mayor número de consultas, pero un rendimiento excesivo de los exámenes. Por lo tanto, de este escenario parece que hay una medicalización de la atención médica, marcada por el uso excesivo de la tecnología y el poder de decisión de los profesionales de la salud. En vista de esto, se concluye que la desmedicalización es incipiente en la atención prenatal en la red de salud privada. Por lo tanto, es necesario reflexionar sobre el papel de las mujeres en la toma de decisiones en el sentido de poderosas provocaciones para contribuir a la reorganización de la forma de atención de la salud en la red privada. O presente estudo tem como objetivo analisar, sob a ótica da desmedicalização, a assistência ao pré-natal na rede privada de saúde. Trata-se de uma revisão integrativa com busca de dados entre agosto a outubro de 2019 nas bases Medline/PubMed, Web of Science, Base referencial da Editora Elsevier, Banco de Dados em Enfermagem e Scientific Electronic Library Online. Foram selecionados 15 artigos como amostra final para análise de dados. Identificou-se que a rede privada oferece maior facilidade de acesso, instalações, número maior de consultas, porém uma realização excessiva de exames. Assim, depreende-se, a partir deste cenário, que há uma medicalização da assistência em saúde, marcada pelo uso excessivo de tecnologia e do poder de decisão por profissionais de saúde. Diante disto, conclui-se que a desmedicalização é incipiente na assistência ao pré-natal na rede de saúde privada. Deste modo, cumpre refletir sobre o protagonismo decisório da mulher no sentido de provocações potentes para contribuir na reorganização da maneira de se cuidar em saúde na rede privada.

O presente estudo tem como objetivo analisar, sob a ótica da desmedicalização, a assistência ao pré-natal na rede privada de saúde. Trata-se de uma revisão integrativa com busca de dados entre agosto a outubro de 2019 nas bases Medline/PubMed, Web of Science, Base referencial da Editora Elsevier, Banco de Dados em Enfermagem e Scientific Electronic Library Online. Foram selecionados 15 artigos como amostra final para análise de dados. Identificou-se que a rede privada oferece maior facilidade de acesso, instalações, número maior de consultas, porém uma realização excessiva de exames. Assim, depreende-se, a partir deste cenário, que há uma medicalização da assistência em saúde, marcada pelo uso excessivo de tecnologia e do poder de decisão por profissionais de saúde. Diante disto, conclui-se que a desmedicalização é incipiente na assistência ao pré-natal na rede de saúde privada. Deste modo, cumpre refletir sobre o protagonismo decisório da mulher no sentido de provocações potentes para contribuir na reorganização da maneira de se cuidar em saúde na rede privada.

Variant interpretation is the key issue in molecular diagnosis. Spliceogenic variants exemplify this issue as each nucleotide variant can be deleterious via disruption or creation of splice site consensus sequences. Consequently, reliable in silico prediction of variant spliceogenicity would be a major improvement. Thanks to an international effort, a set of 395 variants studied at the mRNA level and occurring in 5′ and 3′ consensus regions (defined as the 11 and 14 bases surrounding the exon/intron junction, respectively) was collected for 11 different genes, including BRCA1, BRCA2, CFTR and RHD, and used to train and validate a new prediction protocol named Splicing Prediction in Consensus Elements (SPiCE). SPiCE combines in silico predictions from SpliceSiteFinder-like and MaxEntScan and uses logistic regression to define optimal decision thresholds. It revealed an unprecedented sensitivity and specificity of 99.5 and 95.2%, respectively, and the impact on splicing was correctly predicted for 98.8% of variants. We therefore propose SPiCE as the new tool for predicting variant spliceogenicity. It could be easily implemented in any diagnostic laboratory as a routine decision making tool to help geneticists to face the deluge of variants in the next-generation sequencing era. SPiCE is accessible at (https://sourceforge.net/projects/spicev2-1/).

Assessing the impact of variants of unknown significance (VUS) on splicing is a key issue in molecular diagnosis. This impact can be predicted by in silico tools, but proper evaluation and user guidelines are lacking. To fill this gap, we embarked upon the largest BRCA1 and BRCA2 splice study to date by testing 272 VUSs (327 analyses) within the BRCA splice network of Unicancer. All these VUSs were analyzed by using six tools (splice site prediction by neural network, splice site finder (SSF), MaxEntScan (MES), ESE finder, relative enhancer and silencer classification by unanimous enrichment, and human splicing finder) and the predictions obtained were compared with transcript analysis results. Combining MES and SSF gave 96% sensitivity and 83% specificity for VUSs occurring in the vicinity of consensus splice sites, that is, the surrounding 11 and 14 bases for the 5' and 3' sites, respectively. This study was also an opportunity to define guidelines for transcript analysis along with a tentative classification of splice variants. The guidelines drawn from this large series should be useful for the whole community, particularly in the context of growing sequencing capacities that require robust pipelines for variant interpretation.

Hereditary breast cancers account for up to 5-10 % of breast cancers and a majority are related to the BRCA1 and BRCA2 genes. However, many families with breast cancer predisposition do not carry any known mutations for BRCA1 and BRCA2 genes. We explored the incidence of rare large rearrangements in the coding, noncoding and flanking regions of BRCA1/2 and in eight other candidate genes--CHEK2, BARD1, ATM, RAD50, RAD51, BRIP1, RAP80 and PALB2. A dedicated zoom-in CGH-array was applied to screen for rearrangements in 472 unrelated French individuals from breast-ovarian cancer families that were being followed in eight French oncogenetic laboratories. No new rearrangement was found neither in the genomic regions of BRCA1/2 nor in candidate genes, except for the CHEK2 and BARD1 genes. Three heterozygous deletions were detected in the 5' and 3' flanking regions of BRCA1. One large deletion introducing a frameshift was identified in the CHEK2 gene in two families and one heterozygous deletion was detected within an intron of BARD1. The study demonstrates the usefulness of CGH-array in routine genetic analysis and, aside from the CHEK2 rearrangements, indicates there is a very low incidence of large rearrangements in BRCA1/2 and in the other eight candidate genes in families already explored for BRCA1/2 mutations. Finally, next-generation sequencing should bring new information about point mutations in intronic and flanking regions and also medium size rearrangements.

Background: Few germline BRCA2 rearrangements have been described compared with the large number of germline rearrangements reported in the BRCA1 gene. However, some BRCA2 rearrangements have been reported in families that included at least one case of male breast cancer. Objective: To estimate the contribution of large genomic rearrangements to the spectrum of BRCA2 defects. Methods: Quantitative multiplex PCR of short fluorescent fragments (QMPSF) was used to screen the BRCA2 gene for germline rearrangements in highly selected families. QMPSF was previously used to detect heterozygous deletions/duplications in many genes including BRCA1 and BRCA2 . Results: We selected a subgroup of 194 high risk families with four or more breast cancers with an average age at diagnosis of ⩽50 years, who were recruited through 14 genetic counselling centres in France and one centre in Switzerland. BRCA2 mutations were detected in 18.6% (36 index cases) and BRCA1 mutations in 12.4% (24 index cases) of these families. Of the 134 BRCA1/2 negative index cases in this subgroup, 120 were screened for large rearrangements of BRCA2 using QMPSF. Novel and distinct BRCA2 deletions were detected in three families and their boundaries were determined. We found that genomic rearrangements represent 7.7% (95% confidence interval 0% to 16%) of the BRCA2 mutation spectrum. Conclusion: The molecular diagnosis of breast cancer predisposition should include screening for BRCA2 rearrangements, at least in families with a high probability of BRCA2 defects.