نتایج جستجو برای: familial aggregation
تعداد نتایج: 119466 فیلتر نتایج به سال:
PURPOSE There is a paucity of data quantifying the familial risk of colorectal cancer associated with mismatch repair (MMR)-deficient and MMR-stable tumors. To address this, we analyzed a population-based series of 1,042 colorectal cancer probands with verified family histories. EXPERIMENTAL DESIGN Constitutional DNA from probands was systematically screened for MYH variants and those with ca...
BACKGROUND Although BRCA1 and BRCA2 mutations account for only ∼27% of the familial aggregation of ovarian cancer (OvC), no OvC risk prediction model currently exists that considers the effects of BRCA1, BRCA2 and other familial factors. Therefore, a currently unresolved problem in clinical genetics is how to counsel women with family history of OvC but no identifiable BRCA1/2 mutations. METH...
CONTEXT The familiality of borderline personality disorder (BPD) and its sectors of psychopathology are incompletely understood. OBJECTIVES To assess the familial aggregation of BPD and its 4 major sectors (affective, interpersonal, behavioral, and cognitive) and test whether the relationship of the familial and nonfamilial associations among these sectors can be accounted for by a latent BPD...
Many cancer predisposition syndromes are rare or have incomplete penetrance, and traditional epidemiological tools are not well suited for their detection. Here we have used an approach that employs the entire population based data in the Finnish Cancer Registry (FCR) for analyzing familial aggregation of all types of cancer, in order to find evidence for previously unrecognized cancer suscepti...
Mutation-induced aggregation of the dimeric enzyme Cu, Zn superoxide dismutase 1 (SOD1) has been implicated in the familial form of the disease amyotrophic lateral sclerosis, but the mechanism of aggregation is not known. Here, we show that in vitro SOD1 aggregation is a multistep reaction that minimally consists of dimer dissociation, metal loss from the monomers, and oligomerization of the ap...
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