PURPOSE/OBJECTIVES To describe knowledge of hereditary, familial, and sporadic breast cancer risk factors among women in the community and to identify characteristics associated with this knowledge. DESIGN Descriptive, cross-sectional. SETTING Community settings in the San Francisco Bay Area. SAMPLE 184 women who had never been diagnosed with cancer, were 30-85 years old (mean = 47 + 12),...

OBJECTIVE It has been suggested that survivors of ongoing childhood sexual abuse (CSA) tend to have been reared in ineffective family environments that render them particularly vulnerable to maltreatment and which foster psychological difficulties beyond those accounted for solely by their abuse. If this conjecture is valid, one would expect that the family of origin environments of CSA survivo...

dysplasia epipysealis hemimelica (deh) is a rare disease, prevalence is one in 1000000. the incidence is unknown. its characteristics is abnormal cartilage growth accompanied by ossification of cartilages of epiphyses of long bones, bones of foot ankle and wrist. a hereditary or familial factor hasn't yet been known. occurrence in males is three times more than females. our case is a girl ...

BACKGROUND A number of studies with conflicting results have examined the familiality of schizophrenia syndromes in Western populations. AIMS The objective of this study was to determine, using clinical data from concordant sibling pairs, whether symptom dimensions and other clinical characteristics of schizophrenia show familial aggregation and are therefore potentially useful traits in gene...

BACKGROUND Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder associated with very high levels of cholesterol, accelerated atherosclerosis and very premature death, often secondary to occlusion of the coronary ostia by supravalvular atheroma in untreated individuals. OBJECTIVE To describe molecular and clinical characteristics of HoFH enrolled at SAFEHEART registry and...

Background: Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. Case presentation: We report a rare case of...

abstract bachground and aim: mutation analysis of mitochondrial genome and brca genes are helpful in the early diagnosis of familial breast cancers. in this study, we investigated mitochondrial common deletion and brca mutations through multiplex pcr and clinical parameters for the detection of familial breast cancers in archival breast cancer samples. methods: the multiplex pcr was conducted o...

PURPOSE To determine the effect of the breast cancer susceptibility mutation PALB2 1592delT on tumor phenotype and patient survival. EXPERIMENTAL DESIGN We defined the PALB2 mutation status in 947 familial and 1,274 sporadic breast cancer patients and 1,079 population controls, and compared tumor characteristics and survival in mutation carriers relative to other familial and sporadic cases a...

background: in northeastern iran there is an area of high incidence of esophageal cancer which is populated by residents of turkmen ancestry. several environmental risk factors for esophageal cancer have been proposed, but the roles of familial and genetic factors have not been studied extensively in the turkmen population. materials and methods: we evaluated the importance of familial risk fac...