55 research outputs found

    Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

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

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    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

    Anxiety as a cause of attachment avoidance in women with Turner Syndrome

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    Working models of attachment are internal depictions of self relative to others and have been described in terms of two dimensions: (1) attachment avoidance and (2) attachment anxiety. An exploratory qualitative study was carried out to build understandings about women with Turner Syndrome (TS) and the psychosocial impact their infertility has upon salient relationships. In one-to-one semi-structured interviews, five women with TS were asked: How do you perceive your womanhood and infertility status has affected your relationships with: (1) the opposite sex, (2) siblings and (3) peers? In opposite-sex relationships, infertility status was found to arouse fear of ending up alone and anxiety over engaging in romantic relationships. In sibling relationships, jealousy was expressed in relation to disparity with sister(s) more natural maturation to womanhood, and, within peer relationships, consequences from divulging infertility status created attachment avoidance with friends. Further investigation in this area is merited

    Effectiveness of attachment based STEEPℱ intervention in a German high-risk sample

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    STEEP(TM) was one of the first attachment-based early intervention programs. The program applied findings from the Minnesota Longitudinal Study on Risk and Adaptation to the development of a supportive program for young high-risk mothers and their infants. STEEP’s effectiveness was evaluated first in a randomized controlled study launched in 1987. The study showed effects of the one-year intervention on important individual and parenting variables, but not on quality of mother–infant attachment. In the current German study with young mothers at risk for abuse and neglect, a two-year adaptation of STEEP was evaluated within a quasi-experimental design. STEEP mother–infant pairs (N = 78) were compared with pairs who received standard services of the German Child Welfare System (GCWS, N = 29). Compared with GCWS pairs, significantly more mother–infant pairs in the intervention group showed secure attachment patterns in Ainsworth®s Strange Situation when the infants were 12 months of age. At the end of the intervention (infant age = 24 month), attachment security scores derived from Waters’ Attachment Q-Sort were in the predicted direction and showed a medium effect size, but did not reach criteria of statistical significance. At both time points, the STEEP group showed significantly fewer signs of attachment disorganization than the comparison group
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