Abstract：
:Deleterious mutations in two breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2 have been identified in breast and ovarian cancer families. Women with a BRCA1 or BRCA2 mutation are candidates for additional risk reduction measures such as intensive screening, prophylactic surgery or chemoprevention. Additional susceptibility genes have been identified, including PTEN, ATM, TP53, CHEK2, CASP8, PBRL and BRIP1. Yet, many women with a personal or family history suggestive of a hereditary susceptibility to breast cancer undergo genetic testing and no significant genetic alteration is found. Thus, there are other susceptibility genes that have not been identified, and it is likely that the remaining familial contribution to breast cancer will be explained by the presence of multiple low penetrance alleles that coexist to confer high penetrance risks (a polygenic model). The American Cancer Society has identified cancer prevention as a key component of cancer management and there is interest in developing individualized cancer prevention focused on identifying high risk individuals who are most likely to benefit from more aggressive risk reduction measures. Breast cancer risk assessment and genetic counseling are currently provided by genetic counselors, oncology nurse specialist, geneticists, medical and surgical oncologists, gynecologists and other health care professionals, often working within a multidisciplinary clinical setting. Current methods for risk assessment and predictive genetic testing have limitations and improvements in molecular testing and risk assessment tools is necessary to maximize individual breast cancer risk assessment and to fulfill the promise of cancer prevention.
journal_name
Rev Endocr Metab Disordjournal_title
Reviews in endocrine & metabolic disordersauthors
Bradbury AR,Olopade OIdoi
10.1007/s11154-007-9038-0subject
Has Abstractpub_date
2007-09-01 00:00:00pages
255-67issue
3eissn
1389-9155issn
1573-2606journal_volume
8pub_type
杂志文章,评审abstract：:Management of patients with ACTH producing pituitary adenoma remains to be challenging. Removal of the pituitary adenoma through transsphenoidal surgery is the main stay of treatment. Complete resection of the adenoma is followed by the development of ACTH deficiency since the normal corticotrophs are suppressed by th...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-010-9140-6
更新日期：2010-06-01 00:00:00
abstract：:The response to retention hypothesis outlines the initial stages of atherosclerotic lesion formation. The central theme of the hypothesis is that proteoglycan mediated lipoprotein retention plays a critical step in the initiation of atherosclerosis development. Recent research using human arterial specimens, transgeni...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-008-9078-0
更新日期：2008-12-01 00:00:00
abstract：:The vascular endothelium has been identified as an important component in diabetes-associated complications, which include many cardiovascular disorders such as atherosclerosis, hypertension and peripheral neuropathy. Additionally, insulin's actions on the endothelium are now seen as a major factor in the metabolic ef...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-012-9233-5
更新日期：2013-03-01 00:00:00
abstract：:The prevalence of convenience-driven delivery via Caesarian-section (C-section) has been steadily increasing in Western as well as in developing societies. Today, significantly more deliveries occur via surgical means than medical necessity mandates. Despite tremendous advances in surgical techniques and pre- and post...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-013-9262-8
更新日期：2013-12-01 00:00:00
abstract：:Impulsivity and compulsivity are multidimensional constructs that are increasingly considered determinants of obesity. Studies using functional magnetic resonance imaging (fMRI) have provided insight on how differences in brain response during tasks exploring facets of impulsivity and compulsivity relate to the ingest...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-019-09515-x
更新日期：2019-09-01 00:00:00
abstract：:With the dramatically increasing prevalence of obesity and type 2 diabetes mellitus (T2DM) worldwide, there is an urgent need for new strategies to combat the growing epidemic of these metabolic diseases. Diet is an essential factor affecting the development of and risk for obesity and T2DM and it can either help or h...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-014-9302-z
更新日期：2015-03-01 00:00:00
abstract：:Neuroendocrine neoplasms (NENs) comprise a heterogeneous group of tumors, mainly localized in the gastrointestinal system. What characterizes NENs is the expression of hormone receptors on the tumor cell surface, making them accessible for diagnostic and therapeutic approaches (theranostics) using radiolabelled peptid...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-020-09552-x
更新日期：2020-06-03 00:00:00
abstract：:New insights on the high prevalence of functional decompensation of the thyroid among newborn and children from several states of India as well as neighbouring countries of Nepal and Bhutan helped to prevent nutritional iodine deficiency and iodine deficiency disorders through country-wide iodized salt prophylaxis. Pr...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-008-9094-0
更新日期：2008-09-01 00:00:00
abstract：:From the age of 2 years, an American child is more likely to consume a sugar-sweetened product than a fruit or vegetable on any given day-a troubling statistic, given that food preferences are established early in childhood, as well as the strong association between this dietary pattern and increased risk of developin...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-016-9360-5
更新日期：2016-06-01 00:00:00
abstract：:Vitamin D is a key hormone involved in the regulation of calcium/phosphorous balance and recently it has been implicated in the pathogenesis of sub-inflammation, insulin resistance and obesity. The two main forms of vitamin D are cholecalciferol (Vitamin D3) and ergocalciferol (Vitamin D2): the active form (1,25-dihyd...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-017-9423-2
更新日期：2017-06-01 00:00:00
abstract：:The incidence of neuroendocrine tumors (NET) increases with age. Lately, the diagnosis of NET was mainly caused by early detection of small NET (<1 cm) in the rectum and stomach, which are depicted by chance during routine and prophylactic endoscopy. Also in patients with large and metastatic pancreatic and intestinal...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-018-9469-9
更新日期：2018-06-01 00:00:00
abstract：UNLABELLED:We aimed to review and summarize the evidence from accomplished trials analyzing factors influencing mortality in patients with T2DM and to provide some recommendations for targets and treatment in the European region. The following databases were searched for relevant trials: PubMed and the Cochrane Library...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-016-9349-0
更新日期：2016-03-01 00:00:00
abstract：:Endothelial dysfunction associated with diabetes and cardiovascular disease is characterized by changes in vasoregulation, enhanced generation of reactive oxygen intermediates, inflammatory activation, and altered barrier function. These endothelial alterations contribute to excess cardiovascular disease in diabetes, ...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-013-9239-7
更新日期：2013-03-01 00:00:00
abstract：:Diabetes is a group of metabolic disorders characterized by persistent hyperglycemia and has become a major public health concern. Autoimmune type 1 diabetes (T1D) and insulin resistant type 2 diabetes (T2D) are the two main types. A combination of genetic and environmental factors contributes to the development of th...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-015-9309-0
更新日期：2015-03-01 00:00:00
abstract：:Myo-inositol (Myo-Ins) plays an important role in thyroid function and autoimmunity. Myo-Ins is the precursor for the synthesis of phosphoinositides, which takes part in the phosphatidylinositol (PtdIns) signal transduction pathway, and plays a decisive role in several cellular processes. In the thyroid cells, PtdIns ...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-018-9477-9
更新日期：2018-12-01 00:00:00
abstract：:Intrauterine growth retardation (IUGR) has been linked to later development of type 2 diabetes in adulthood. Human studies indicate that individuals who were growth retarded at birth have impaired insulin secretion and insulin resistance. Multiple animal models of IUGR demonstrate impaired beta-cell function and devel...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-007-9045-1
更新日期：2007-06-01 00:00:00
abstract：:Vitamin D deficiency is highly prevalent among children and adolescents worldwide. The high rates of vitamin D deficiency during childhood are of major public health relevance, given the growing evidence that vitamin D deficiency may play a key role in the pathophysiology of many chronic diseases beyond rickets, inclu...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-007-9072-y
更新日期：2008-06-01 00:00:00
abstract：:In the last 10 years, several studies have shown that the pancreas of patients with type 1 diabetes (T1D), and even of subjects at risk for T1D, was smaller than the pancreas from healthy subjects. This arose the question of the relationships between the endocrine and exocrine parts of the pancreas in T1D pathogenesis...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-019-09501-3
更新日期：2019-06-01 00:00:00
abstract：:Worldwide prevalence of diabetes mellitus in the adult population is increasing and when explicitly searched within specific groups of patients, as those presenting cardiovascular disease (CVD), dysglycaemia is detected in about three-quarters of the patients. Dysglycaemia alone is a major risk factor for microvascula...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-010-9136-2
更新日期：2010-03-01 00:00:00
abstract：:Glucokinase is a key enzyme involved in regulating insulin secretion from the pancreatic ß-cell. The unique role of glucokinase in human glucose physiology is illustrated by the fact that genetic mutations in glucokinase can either cause hyperglycaemia or hypoglycaemia. Heterozygous inactivating mutations in glucokina...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-010-9147-z
更新日期：2010-09-01 00:00:00
abstract：:The hypothalamic pituitary adrenal (HPA) axis is the most common of the endocrine lines/axis' to be affected by HIV infection. There are multiple factors that contribute to this HPA axis dysregulation. Direct invasion of the various organs in the axis can be either by opportunistic infections or infiltrative diseases....
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-013-9244-x
更新日期：2013-06-01 00:00:00
abstract：:The term "HCV syndrome" encompasses several organ- and systemic pathophysiological states, which often recognize autoimmunity or neoplastic evolution in their pathophysiology, as well as chronic HCV infection as trigger. The clinical features of HCV patients are heterogenous, and may include endocrine or metabolic dis...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-018-9475-y
更新日期：2018-12-01 00:00:00
abstract：:The ATP-sensitive potassium (K(ATP)) channel is composed of two subunits SUR1 and Kir6.2. The channel is key for glucose stimulated insulin release from the pancreatic beta cell. Activating mutations have been identified in the genes encoding these subunits, ABCC8 and KCNJ11, and account for approximately 40% of perma...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-010-9149-x
更新日期：2010-09-01 00:00:00
abstract：:The ovarian steroid hormones progesterone and estradiol are well established regulators of human endometrial function. However, more recent evidence suggests that androgens and locally generated steroids, such as the glucocorticoids, also have a significant impact on endometrial breakdown and repair. The temporal and ...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-012-9228-2
更新日期：2012-12-01 00:00:00
abstract：:Diabetes mellitus is a chronic, progressive, incompletely understood metabolic disorder whose prevalence has been increasing steadily worldwide. Even though little attention has been paid to lung disorders in the context of diabetes, its prevalence has recently been challenged by newer studies of disease development. ...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-019-09516-w
更新日期：2019-09-01 00:00:00
abstract：:The last decade has been characterized by an intense research on the composition of the gut microbiome and the links with human health. While previous work was focused on the effects of prebiotics and probiotics, nowadays several laboratories are describing the gut microbiome and its metabolic functions. Gut microbiom...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-019-09533-9
更新日期：2019-12-01 00:00:00
abstract：:An emerging branch of research is examining the linkage between Vitamin D and nonskeletal disorders, including endocrine diseases. In this regard, a still little studied aspect concerns the involvement of vitamin D in adrenal gland disorders. Adrenal gland disorders, which might be theoretically affected by vitamin D ...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-016-9391-y
更新日期：2017-09-01 00:00:00
abstract：:Abnormalities in thyroid function are common endocrine disorders that affect 5-10 % of the general population, with hypothyroidism occurring more frequently than hyperthyroidism. Clinical symptoms and signs are often nonspecific, particularly in hypothyroidism. Muscular symptoms (stiffness, myalgias, cramps, easy fati...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-016-9357-0
更新日期：2016-12-01 00:00:00
abstract：:Celiac disease is a chronic enteropathy caused by permanent intolerance to gluten and similar proteins found in wheat, barley and rye. The intestinal mucosa of susceptible individuals is crossed by undigested gluten, which leads to a marked inflammatory response. The clinical features may vary from overt intestinal sy...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-007-9069-6
更新日期：2008-06-01 00:00:00
abstract：:Obstructive sleep apnea (OSA) is a common disorder associated with cardiovascular disease (CVD). One theory to explain this relationship proposes that OSA can induce systemic inflammation, thereby inducing CVD. This theory is based on the premise that obesity is a pro-inflammatory state, and that physiological derange...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-014-9304-x
更新日期：2015-03-01 00:00:00
