Cancer predisposition genetic testing and risk assessment counseling. Oncology Nursing Society.
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Genetic Counseling↗
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Genetic predisposition to severe myoclonic epilepsy in infancy.
PURPOSE: To address genetic predisposition to febrile convulsions (FCs) and epilepsy as an etiologic background of severe myoclonic epilepsy in infancy (SMEI). METHODS: Familial antecedents of epilepsy and FCs were analyzed in four groups of patients with SMEI (65 cases), FCs (57 cases), childhood absences (67 cases), and a control group of patients with no neurologic problems (64 cases). RESULTS: Patients with SMEI and those with FCs had significantly increased incidence of FCs in their relatives compared with those with absence epilepsy and with the control group. The incidence of epilepsy in relatives of patients with SMEI and absence epilepsy was increased compared with that in the control group and reached statistical significance. Epilepsy in relatives with SMEI had the characteristics of idiopathic generalized epilepsy. CONCLUSIONS: A genetic predisposition could determine three types of epileptic syndromes: FCs, idiopathic generalized epilepsy, and SMEI.
Adolescent↗
[An integrated early detection concept in women with a genetic predisposition for breast cancer].
Breast cancer is in 5% of cases due to a genetic disposition. BRCA1 and BRCA2 are by far the most common breast cancer susceptibility genes. For a woman with a genetic predisposition, the individual risk of developing breast cancer sometime in her life is between 70 and 90%. Compared to the spontaneous forms of breast cancer, woman with a genetic predisposition often develop breast cancer at a much younger age. This is why conventional screening programs on the basis of mammography alone cannot be applied without modification to this high-risk group. In this article, an integrated screening concept for women with genetic predisposition for breast cancer using breast self-examination, clinical examination, ultrasound, mammography and magnetic resonance imaging is introduced.
BRCA1 Protein↗
An inherited restriction in the idiotypic variability as a possible explanation of a genetic predisposition for a monoclonal component.
Genetic factors have been proposed to play a role in the aetiology of a monoclonal proliferation of B lymphocytes. As an additional genetic factor we postulate that a restriction in the idiotypic variability of an individual contributes to a genetic predisposition to monoclonal gammopathy. To support our hypothesis, we have examined three families with multiple occurrence of M-components for sharing of idiotypic antigenicity between the related M-components and between the M-components and the sera of unaffected relatives. Idiotypic antisera against five isolated M-components were raised in guinea-pigs and used in a radiobinding inhibition assay. In none of the three families was idiotypic cross-reactivity observed between the familial M-components. However, in a family with three members with an M-component, sera of first-degree relatives showed a higher inhibitory capacity than sera of non-related individuals when an idiotypic antiserum, raised against the M-component of proposita, was employed. Within this particular family the observed restriction in the idiotypic variability could have contributed to the multiple occurrence of M-components.
Antibody Specificity↗
Genetic predisposition to hypertension and microvascular injury in the remnant kidney model.
Genetic factors have been implicated in the development and progression of glomerulosclerosis and nephron loss in both experimental animals and in humans. The influence of a differing genetic predisposition to hypertension was examined in the remnant kidney (RK) model of progressive glomerulosclerosis. Dahl salt-sensitive (S) and salt-resistant (R) rats fed a normal salt diet underwent either sham surgery or approximately 5/6 renal ablation and were studied 2 to 3 weeks later. Renal ablation resulted in significantly more severe hypertension in RK-S rats (205 +/- 6.3 mm Hg, mean +/- SEM) compared with RK-R rats (153 +/- 3.5 mm Hg; p < 0.01). Renal autoregulatory ability, a protective mechanism against renal transmission of systemic hypertension, was normal in both S and R rats with intact renal mass. Renal ablation resulted in similar impairments of renal autoregulatory ability in both strains. However, striking differences in the severity of renal microvascular and glomerular injury were observed between the remnant kidneys of S and R rats, paralleling the differences in the severity of hypertension. The RK-S rats exhibited acute fibrinoid necrosis and thrombosis of glomerular capillaries, arterioles, and small arteries, whereas only mild segmental glomerulosclerosis lesions were observed in a small percentage of glomeruli in the RK-R rats. The intact kidneys of both strains were essentially free of glomerular or vascular lesions. These data suggest that a genetic predisposition to hypertension is a major determinant of the severity of hypertension that follows severe reduction of renal mass and the severity of the resulting hypertension, in turn, critically influences the severity of glomerular injury in the RK model.
Animals↗
Association between genetic polymorphism of the pepsinogen C gene and gastric body ulcer: the genetic predisposition is not associated with Helicobacter pylori infection.
BACKGROUND AND AIMS: The genetic trait plays a part in the pathogenesis of peptic ulcer disease. To identify a DNA marker for peptic ulcer disease, the association between the restriction fragment length polymorphism (RFLP) of the pepsinogen C (PGC) gene and peptic ulcer disease was investigated. PATIENTS AND METHODS: One hundred and seventy seven unrelated controls, 75 patients with gastric ulcer, and 70 with duodenal ulcer were studied. PGC-RFLP was analysed by polymerase chain reaction (PCR), and the association between PGC-RFLP and peptic ulcer disease was examined. The relation between the genetic association of PGC polymorphism with peptic ulcer and Helicobacter pylori infection was also examined. RESULTS: Four alleles, 480 (allele 1), 450 (allele 2), 400 (allele 3), and 310 bp (allele 4), were detected by PCR. The frequency of allele 4 was significantly higher in patients with gastric body ulcer than in controls (chi (2) = 9.92, p < 0.005). Genotypes containing allele 4 were significantly more frequent in patients with gastric body ulcer than in controls and patients with gastric angular or antral ulcer. The relative risk of gastric body ulcer associated with the presence of allele 4, compared with its absence, was 4.63 and was statistically significant (chi (2) = 14.84, p < 0.005). There were no significant differences in the allelic frequencies between H pylori positive and H pylori negative groups in controls, patients with gastric body ulcer, or patients with gastric angular or antral ulcer. Both in H pylori negative and H pylori positive cases, there was an increased frequency of allele 4 in patients with gastric body ulcer compared with controls. CONCLUSIONS: These results suggest that there is a significant association between this genetic polymorphism at the PGC gene locus and gastric body ulcer. There are differences in the genetic aetiology between gastric body ulcer and gastric angular or antral ulcer. PGC-RFLP may be used as a genetic marker for a genetic predisposition to gastric body ulcer; this genetic predisposition is not associated with H pylori infection.
Adult↗
No association of dopamine receptor sensitivity in vivo with genetic predisposition for alcoholism and DRD2/DRD3 gene polymorphisms in alcohol dependence.
This study sought to examine dopamine receptor sensitivity among alcoholics in vivo and to explore whether this sensitivity might be associated with functional variations of dopamine D2 (DRD2) and D3 (DRD3) receptor genes along with a genetic predisposition for alcoholism as reflected by an alcohol-dependent first-degree relative. We analyzed the -141C Ins/Del polymorphism in the promoter region of the DRD2 gene and the Ser9Gly (BalI) polymorphism in exon 1 of the DRD3 gene in 74 alcohol-dependent Caucasian men with or without genetic predisposition for alcoholism. In vivo dopamine receptor sensitivity was assessed by measuring apomorphine-induced growth hormone release. A three-way analysis of variance revealed no significant effects of DRD2, DRD3 genotypes and genetic predisposition on dopamine receptor sensitivity. Given the explorative and preliminary character of this investigation, we cannot provide evidence that in alcohol-dependent Caucasian men a genetic predisposition for alcoholism along with functional variants of the DRD2 and DRD3 genes are associated with differences in dopamine receptor sensitivity.
Adult↗
Analysis of Tcrvb8, Il4, and Ifg as genetic predisposition factors for atopic IgE response in a murine model.
Allergen-induced synthesis of lgE Abs in genetically predisposed individuals constitutes the hallmark of allergic diseases; however, the molecular basis of this genetic predisposition remains unknown. T cell cytokines lL-4 and IFN-gamma reciprocally regulate lgE synthesis and are potential genetic factors governing atopy. To examine the inheritance patterns of IgE responsiveness and address the role of these cytokines as genetic predisposition factors, in this study we established a MHC-identical mouse colony comprising crosses between two inbred strains of mouse, A.SW and SJL, respectively representing high and low IgE responder phenotypes. Segregation analysis with 149 [(A.SW x SJL)F1 x SJL] backcross and 148 [(A.SW x SJL)F1 x F1]F2 mice suggested that persistent high IgE responsiveness was inherited as a simple Mendelian dominant trait under the control of a single non-MHC, autosomal gene of major effect in these strains. Since SJL lacked Tcrvb8 genes, we examined the possibility of Tcrvb8 as a candidate gene for IgE responsiveness. The results suggested association of neither the Tcrvb8 gene nor its expression with allergen-induced IgE phenotype. Furthermore, microsatellite marker and gene sequencing analyses revealed that neither of the ll4 and lfg genes was associated with IgE phenotype. Moreover, correlation studies between IgE and cytokine levels in splenocyte cultures indicated that IgE levels were moderately to poorly correlated with IL-4 and IFN-gamma levels. It is concluded that even though expression of Tcrvb8, II4, and Ifg genes may play pivotal roles in IgE regulation, these genes per se do not contribute to genetic predisposition of allergen-induced IgE hyperresponsiveness in these strains of mice.
Animals↗
Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition.
Previous studies have suggested that asymmetry for certain bilaterally represented features may be an indicator of genetic predisposition to cleft lip with or without cleft palate and may therefore be of value in the individual assessment of recurrence risk, particularly for sporadic cases. An asymmetry score has been devised that may be of use in identifying those with a high level of genetic predisposition. Stepwise logistic regression selected nine variables that together correctly classified 85% of familial cleft patients and unrelated non-cleft controls. Applying the same regression equation to sporadic cases, 26% fell into the range occupied by the majority of familial patients, suggesting that these had a high level of genetic predisposition.
Adolescent↗
[Genetic predisposition for multiple sclerosis].
Although the clinical manifestations and neuropathological signs of multiple sclerosis (MS) have been known for a century, the cause of this disease has not yet been determined. The epidemiological studies indicate that MS is of multifactorial etiology, including both environmental and inherited (genetic predisposition) factors. The role of the HLA system in genetic predisposition to MS has been known since the 1970s. As a result of the progress made in human genetics, it is now possible to study genetic predisposition to MS.
Genetic Predisposition to Disease↗
MRI screening for breast cancer in women with familial or genetic predisposition: design of the Dutch National Study (MRISC).
Mammography screening of women aged 50-70 years for breast cancer has proven to be effective in reducing breast cancer mortality. There is no consensus about the value of breast cancer screening in women aged 40-49 years. Five to ten per cent of all breast cancers are hereditary. One of the options to reduce the risk of breast cancer mortality for women with a familial or genetic predisposition is intensive surveillance. However, the effectiveness of mammography screening for breast cancer in these women, who are mainly younger than 50 years, is unproven. MRI might increase the effectiveness of screening in women with a familial or genetic predisposition. This paper describes the design of the Dutch national study for Magnetic Resonance Imaging (MRI) screening in women with a familial or genetic predisposition. The aims of this study are to investigate: the value of regular surveillance in women with a familial or genetic predisposition for breast cancer, the efficacy of MRI as compared to mammography, cost-effectiveness of regular screening and quality of life during surveillance. Included are women with a lifetime risk of familial breast cancer of 15% or more or BRCA1/2 mutation carriers, who visit one of the Dutch family cancer clinics. The aim is to include 2,500 women. The study started on 1 November 1999. On 1 January 2002, more than 1,700 women, including 210 proven carriers of a BRCA1 or BRCA2 mutation, were included in the study.
Adult↗
Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition.
The chromosomal radiosensitivity of breast cancer patients with a known or putative genetic predisposition was investigated and compared to a group of healthy women. The chromosomal radiosensitivity was assessed with the G2 and the G0-micronucleus assay. For the G2 assay lymphocytes were irradiated in vitro with a dose of 0.4 Gy (60)Co gamma-rays after 71 h incubation, and chromatid breaks were scored in 50 metaphases. For the micronucleus assay lymphocytes were exposed in vitro to 3.5 Gy (60)Co gamma-rays at a high dose rate or low dose rate. 70 h post-irradiation cultures were arrested and micronuclei were scored in 1000 binucleate cells. The results demonstrated that the group of breast cancer patients with a known or putative genetic predisposition was on the average more radiosensitive than a population of healthy women, and this with the G2 as well as with the high dose rate and low dose rate micronucleus assay. With the G2 assay 43% of the patients were found to be radiosensitive. A higher proportion of the patients were radiosensitive with the micronucleus assay (45% with high dose rate and 61% with low dose rate). No correlation was found between the G2 and the G0-micronucleus chromosomal radiosensitivity. Out of the different subgroups considered, the group of the young breast cancer patients without family history showed the highest percentage of radiosensitive cases in the G2 (50%) as well as in the micronucleus assay (75-78%).
Adult↗
Genetic predisposition to cancer - insights from population genetics.
Individuals differ in their inherited tendency to develop cancer. Major single-gene defects that cause early cancer onset have been known for many years from their inheritance patterns, and inherited defects that have weaker effects on predisposition were also suspected to exist. Recent progress in cancer genetics has identified specific loci that are involved in cancer progression, many of which have key roles in DNA repair, cell-cycle control and cell-death pathways. Those loci, which are often mutated somatically during cancer progression, sometimes also contain inherited mutations. Recent genetic studies and quantitative population-genetic analyses provide a framework for understanding the frequency of inherited mutations and the consequences of these mutations for increased predisposition to cancer.
Age Factors↗
The impact of learning of a genetic predisposition to nicotine dependence: an analogue study.
OBJECTIVES: To examine the consequences of informing smokers of a genetic predisposition to nicotine dependence and of providing treatment efficacy information tailored to genetic status. DESIGN: Analogue study using four vignettes; 2 (genetic status) x 2 (whether treatment efficacy information provided) between subjects design. PARTICIPANTS: 269 British adult smokers. OUTCOME MEASURES: Preferred cessation methods and perceived control over quitting. RESULTS: Gene positive participants were significantly more likely to choose the cessation method described as effective for their genetic status, but significantly less likely to choose to use their own willpower. Providing tailored treatment information did not alter these effects. Perceived control was not significantly affected by either genetic status or information provision. CONCLUSIONS: Learning of a genetic predisposition to nicotine dependence may increase desire for effective cessation methods, but may undermine the perceived importance of willpower in stopping smoking.
Adult↗
Genetic predisposition for tympanosclerotic degeneration.
Atherosclerosis and tympanosclerosis are disorders that affect different organs in the body. When tissue samples taken from atherosclerotic and tympanosclerotic lesions are compared under light and electron microscopes, common pathological characteristics become apparent in both tissues. These similarities indicate that genetic predisposition to atherosclerosis is also seen in the middle ear. For the purpose of evaluating this genetic predisposition, the incidence of tympanosclerosis in atherosclerotic patients was examined and compared with the normal population. Otoscopic examination of 1,024 atherosclerotic patients was performed, and myringosclerosis was revealed in 66.6%. Myringosclerosis was found in 36 out of 300 non-atherosclerotic patients (12%). In the group of atherosclerotic patients, 174 individuals had past histories of previous ear infections. Myringosclerosis was detected in 147 of these patients (84.5%) during ear examinations. In 637 non-atherosclerotic patients with histories of ear infections, this figure was 114 (17.7%). The high rate of tympanosclerosis observed in atherosclerotic patients in comparison to the normal population was found to be statistically significant. These findings indicate that there must be a genetic predisposition for sclerotic degeneration in some individuals.
Adult↗
[Angelman syndrome and intracranial aneurysm: fortuitous association or commune genetic predisposition?].
Although the pathogenesis of cerebral aneurysms has been studied intensively, it is yet poorly understood. However, a genetic predisposition to this pathology has been often suspected. We describe a patient with both intracranial aneurysm and Angelman syndrome. Angelman syndrome is characterized by severe mental retardation, inappropriate laughter, absent speech, dysmorphic facial features and seizures. It is due to genetic abnormalities of chromosome 15. Cerebral aneurysms are sometimes associated with inherited diseases like autosomal dominant polycystic kidney disease. Moreover several candidate genes have been analysed, to search for genetic variants which might be associated with the occurrence of intracranial aneurysms. Our question is: is the association described in our observation fortuitous or do these diseases share a same genetic predisposition? Our observation also supports the hypothesis of a genetic participation in the genesis of cerebral aneurysms.
Angelman Syndrome↗
Preterm labour and delivery: a genetic predisposition.
Preterm delivery (PTD) complicates as many as 10% of pregnancies in the United States. Moreover, prematurity accounts for more than 70% of the consequent neonatal and infantile morbidity and mortality. Serious long-term complications include cerebral palsy, respiratory disease, blindness and deafness. Despite substantial basic scientific, translational and clinical investigation in recent years, the PTD rate (10%) and the low birthweight rate (7%) remain largely unchanged. Indeed, the very aetiology and pathophysiology of PTD remain unknown in most cases. In short, PTD continues to constitute a major clinical and public health challenge of the highest order, a circumstance further compounded by the controversy surrounding the efficacy of current therapeutic regimens. In an effort to address the relevant knowledge gap, we put forth the hypothesis that PTD results, at least in part, from a genetic predisposition. Evidence supporting the hypothesis that certain women have a genetic predisposition to deliver preterm is growing. Moreover, the discovery of a gene mutation predisposing to PTD would constitute a major breakthrough for future research into the biology, prediction, and therapy of preterm labour. Presented here is a discussion of the evidence to support a genetic predisposition to PTD, molecular techniques proposed to study the genetics of preterm labour, and plausible candidate genes that warrant further investigation.
Adult↗
Organ-specific autoimmunity and genetic predisposition in interferon-treated HCV-related chronic hepatitis patients.
AIMS: Interferon alpha has been reported to enhance autoantibody production and to increase the risk of autoimmunity particularly against thyroid tissue. We designed a study with the following aims: 1) to assess the incidence of organ- and non-organ-specific autoantibodies during Interferon treatment; 2) to evaluate whether these autoantibodies have any clinical relevance; 3) to establish whether the development of autoimmune disorders can be related to a genetic predisposition. METHODS: A panel of 5 non-organ-specific and 6 organ-specific autoantibodies was evaluated in serum samples collected before treatment and then at 3 and 12 months in 47 patients enrolled in a treatment protocol with a 2b-recombinant Interferon (3 MU, 3 times a week for 12 months). In the second part of the study we explored genetic predisposition for autoimmune disorders in 31 patients by DNA-HLA class II typing using Restriction Fragment Length Polymorphism (RFPL). RESULTS: Non-organ-specific autoantibodies were absent in all patients before and after Interferon. During follow-up 6 patients showed an increment in thyroid microsomal antibody titres; 3 of these also developed thyroglobulin autoantibodies; 3 of the 6 patients developed persistent hypothyroidism; a fourth had a transient subclinical hypothyroidism and a fifth had a transient subclinical hyperthyroidism. Two patients with initial positivity for ICA and PCA maintained their reactivity during treatment without impairment of the respective target organs. Eight out of 39 initially negative patients developed one or more organ-specific autoantibodies during follow-up. One of these developed a persistent hypothyroidism, and another developed insulin-dependent diabetes. HLA-typing did not reveal any particular allele frequency in patients with thyroid antibody positivity as compared with those without autoantibodies and controls. Moreover, four of the 6 patients positive for islet-cell antibodies were carrying the non-Asp 57 allele which is considered a marker of a genetic predisposition for insulin-dependent diabetes. CONCLUSIONS: These findings suggest that, besides the thyroid gland, pancreatic beta-cells could be a target of autoimmunity during Interferon-treatment for chronic HCV hepatitis. A genetic predisposition may be important, though insufficient alone, in the development of Interferon-induced autoimmune phenomena.
Adolescent↗