Identification of a BRCA2-Specific modifier locus at 6p24 related to breast cancer risk

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9×10−8). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

Föräldragrupper inom mödra- och barnhälsovård : forskning, tillämpning och metoder om ledarskap för välfungerande grupper

Den här texten vänder sig till er som leder eller ska leda föräldragrupper. Med föräldragrupper menar vi de grupper som fungerar som stöd för blivande och nyblivna föräldrar, dvs. det handlar om föräldragrupper på mödrahälsovården (MHV) för blivande föräldrar som leds av barnmorskor och föräldragrupper inom barnhälso­vården (BHV) för nyblivna föräldrar som leds av barnsjuksköterskor eller distrikts­sköterskor. Texten är uppdelad på 7 kapitel. I det första kapitlet tar vi upp de stödjande aktivi­te­ter som riktas till blivande och nya föräldrar. Kapitel ett omfattar också vad övergången till vad föräldraskap innebär, både det som kan vara fysiskt och psykiskt påfrestande men också utvecklande. Vi kommer även in på grupper av nya föräldrar som kan behöva extra stöd, t.ex. ensamstående, samkönade, unga föräldrar och föräldrar som inte pratar svenska. I kapitel två flyttar vi fokus till vad det är som ska stödjas–barnens och föräldrarnas behov. Kapitel tre behandlar föräldrarnas förväntningar och tankar om föräldra­grupper–vad vill föräldrar att för­äldragrupper ska ta upp och hur vill de att de ska genomföras. I kapitel fyra riktas till ledaren och ledarrollen. Vi kommer in på olika förhållningssätt kopplat till att vara ledare, men också att skapa förutsättningar för ett lärande för deltagande föräldrar. Vi granskar hur den profession­ella rollen ser ut, men också svårigheterna med att uppfylla alla de förväntningar som finns på ledare för föräldragrupper. Femte kapitlet tar upp hur gruppen fungerar och vad som kan underlätta, men också försvåra arbetet med en grupp. Det handlar bl.a. om hur man skapar trygghet, om roller, normer och strukturer i en föräldragrupp. Vi avslutar med två kapitel som har fokus på strategier och metoder för att lättare kunna tackla potentiella problem och svårigheter, som man kan uppleva finns i föräldragrupper, och istället vända det till något positivt. I dessa två kapitel beskriver vi kooperativt lärande och kollegial handledning och ger också konkreta idéer på hur dessa två metoder eller strategier kan tillämpas på föräldra­gruppen

Sequence analysis of the genes coding for the molecular chaperones GrpE, DnaK and DnaJ from phytoplasma associated with peanut witches' broom

The aim of this study was to describe and understand parental group (PG) leaders experiences of creating conditions for interaction and communication. The data consisted of 10 interviews with 14 leaders. The transcribed interviews were analysed using thematic analysis. The results showed that the leaders ambition was to create a parent-centred learning environment by establishing conditions for interaction and communication between the parents in the PGs. However, the leaders experience was that their professional competencies were insufficient and that they lacked pedagogical tools to create constructive group discussions. Nevertheless, they found other ways to facilitate interactive processes. Based on their experience in the PG, the leaders constructed informal socio-emotional roles for themselves (e.g. caring role and personal role) and let their more formal task roles (e.g. professional role, group leader and consulting role) recede into the background, so as to remove the imbalance of power between the leaders and the parents. They believed this would make the parents feel more confident and make it easier for them to start communicating and interacting. This personal approach places them in a vulnerable position in the PG, in which it is easy for them to feel offended by parents criticism, questioning or silence

Cooperative learning in parental education groups – child healthcare nurses’ views on their work as leaders and on the groups

New parents are offered parental education groups as a way to support their transition to parenthood. Interactive approaches in these groups are of importance, but studies have reported a lack of activities that support interaction. Cooperative learning is a structured method when working with groups and based on five elements essential to maximizing the cooperative potential of groups. The aim was to investigate the leadership skills of child healthcare nurses as leaders for parental education groups, their ideas about creating conditions for well-functioning groups, and what is required to achieve this. The results were analyzed and discussed using social interdependence theory as a framework and especially the five elements of cooperative learning. Further, the study used a qualitative descriptive design, and eight qualitative interviews were analyzed deductively using thematic analysis. The results showed that in their narratives the nurses display vocational knowledge and describe conditions important for their groups from a cooperative learning perspective. Nevertheless, the results indicate that the nurses had difficulty explicitly instructing parents to use their personal experiences and social skills to get groups to function effectively. Knowledge developed in the workplaces from the experience of leading groups is mostly implicit, and formal knowledge and awareness of leadership is necessary for development of the role.Funding: Swedish Research CouncilSwedish Research CouncilEuropean Commission [2016-03550]</p

Parents reasons for not attending parental education groups in antenatal and child health care: A qualitative study

Aims and objectives To explore expectant and new parents reasons not to participate in parental education (PE) groups in antenatal care or child health care. Background In Sweden, expectant and new parents are offered PE groups in antenatal care and in child health care. Although many parents feel unprepared for parenthood, an urgent task is to attract parents to attend the PE groups. Design A total of 915 parents with children aged 0 to 21 months answered a web questionnaire with open questions about (a) reasons not to participate; (b) anything that could change their mind; and (c) parenting support instead of PE groups. This was analysed using content analysis. The study follows the SRQR guidelines. Results Parents expressed private reasons for not attending PE groups. Some parents also asked for more heterogeneity regarding content and methods, as well as accommodation of parents different interests. Other parents asked for like-minded individuals who were in similar situation to themselves. Lack of information or invitations from antenatal care or child health care, or that PE groups were unavailable, were additional reasons for not participating in groups. Conclusions Reasons for not attending PE groups were multifaceted from personal, self-interested and norm-critical reasons, to that the groups were not available or that the parents were not aware of their existence. Relevance to clinical practice Parents of today are a diverse group with different interests and needs. Nevertheless, all parents need to feel included in a way that makes participation in PE groups relevant for them. Thus, it is important for leaders to be aware of structures and norms, and to be able to create a group climate and a pedagogy of acceptance where group members value each others differences. However, to attract parents to participate in PE groups, it is necessary for clinical practice to work on individual, group and organisational levels.Funding Agencies|Swedish Research Council [2016-03550]</p

Maternal depression symptoms during the first 21 months after giving birth

Aims: The first year after childbirth involves a major transition for women, which can accentuate inadequacies and feelings of powerlessness, making them vulnerable to depression. The aim of this study was to investigate the prevalence and frequency of maternal postpartum depressive symptoms at different times after giving birth (0-21 months). Methods: Data were collected cross-sectionally using a web questionnaire containing the Edinburgh Postnatal Depression Scale (EPDS). A total of 888 mothers with children in the age range 0-21 months responded. Results: The results showed different levels of depression over the range of months included in the study. The overall prevalence using EPDS &amp;gt; 12 was 27.8%. There were higher levels at 9-12 months and 17-21 months. The highest levels of symptoms of depression were found at nine, 12, and 17 months after birth, and the lowest levels at two and 16 months. Conclusions:Funding Agencies|Swedish Research CouncilSwedish Research CouncilEuropean Commission [2016-03550]</p

With or without the group: Swedish midwives' and child healthcare nurses' experiences in leading parent education groups

The aim of the study was to describe and to understand midwives’ and child health care nurses’ experiences of working with parent education groups through their descriptions of the role and what they find rewarding and challenging in that work. Data were collected through three open-ended questions from a web survey: “How do you refer to your role when working in parent education?” “What is the biggest challenge or difficulty for you when working in parent education?” and “What is most rewarding when working in parent education?” The answers were analysed by using qualitative content analysis and correlation analysis. The results show that the midwives and child health care nurses either included or excluded the group when describing their role as leaders and their influence on parents. The same applies to what they found rewarding and what was difficult and challenging for them in working with the groups. Primarily, the leaders who excluded the group expressed a lack of competence on a professional level in managing groups and using the right teaching methods to process the knowledge content. One important question to deal with is how to best support midwives and nurses in child health care to be prepared for working with parent education groups. One obvious thing is to provide specialized training in an educational sense. An important aspect could also be providing supervision, individually or in groups.Funding agencies: Swedish Research Council [721-2012-5473]</p

Experiences from leading parental education groups : Perceived difficulties and rewards as an indication of skill acquisition

Developing skills in a professional setting is linked to practical experience. The relationship between experience and acquisition of skills can be seen as a transition from novice to expert. In a nursing setting, this has been studied using the Dreyfus model of skill acquisition. The aim was to investigate how experience influences midwives and child healthcare nurses views of difficulties and rewards in working with parental education groups. The study has a cross-sectional design with a mixed methods approach. A total of 437 midwives and child healthcare nurses answered a web-based survey. First, a qualitative analysis was carried out, and then patterns of experience were analysed. The results showed that less experience as a leader corresponds to a greater focus on ones own role and on personal benefits from working with parents, but not on the specific context of the group. With experience, leaders had a greater focus on the group itself and rewards of making it function well. Not being able to take the current group and the specific context into account when working as a leader reduces possibilities of achieving a well-functioning group and the goals of the parental education.Funding Agencies|Swedish Research CouncilSwedish Research CouncilEuropean Commission [721-2012-5473, 2016-03550]</p