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Results for “Genetic predisposition”

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PubMed1995

[Genetic predisposition for Alzheimer's disease].

Alzheimer's disease comprises senile and presenile dementia. Aetiologically the disease is heterogeneous but has common clinical and pathological characteristics. Furthermore, in patients with a family history of dementia, its incidence is higher than in the general population. In families which inherit early-onset forms of the disease in an autosomal dominant fashion, several apparently pathogenic mutations were identified in three different genes. Dominant hereditary factors are not known for the much more common late-onset forms of Alzheimer's dementia. There are, however, genetic risk factors which contribute to the development of the disease. To date just one of these factors, the apolipoprotein E allele epsilon 4 has been definitively identified. Genetic testing can currently only be done for prognosis of the early onset but not the late onset forms of the disease.

Aged↗
PubMed2004

E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients.

Approximately 30% of all hereditary diffuse gastric cancer (HDGC) families carry CDH1 germline mutations. The other two thirds remain genetically unexplained and are probably caused by alterations in other genes. Using polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP)/sequencing, we screened 32 Portuguese families with a history of gastric cancer and 23 patients with early onset gastric cancer for CDH1 germline mutations. In probands negative for CDH1 mutations, we screened genes involved in hereditary cancer syndromes in which gastric cancer may be one of the component tumours, namely p53 (Li-Fraumeni Syndrome) and hMLH1 and hMSH2 (HNPCC). We also screened in these patients for mutations in Caspase-10, a gene inactivated in sporadic gastric cancer, and SMAD4, a gene whose inactivation in mice is associated with signet-ring cell carcinoma of the stomach. One of the families fulfilling the HDGC criteria harboured a CDH1 germline mutation, and one of the families with incomplete criteria harboured a p53 germline mutation. No mutations were identified in hMLH1 and hMSH2, and only sequence variants were found in SMAD4 and Caspase-10. The present work reports for the first time CDH1 germline mutations in Portuguese gastric cancer families, and highlights the need for p53 mutation screening in families lacking CDH1 germline mutations, in a country with one of the highest incidences of gastric cancer in the world. No evidence was found for a role of germline mutations in SMAD4 and Caspase-10 in families lacking CDH1 mutations.

Adult↗
PubMed2006

[Genetic predisposition in cutaneous melanoma].

The incidence of cutaneous melanoma has increased worldwide in the last 20 years. Research on potential risk factors, both environmental and genetic, has led us to some new and interesting conclusions. Ultraviolet radiation is clearly the main environmental risk factor for melanoma, but its relationship is complex and controversial. With regard to genetic factors, the discovery of two types of genes was a great advance in further understanding the biology of the melanocyte. CDKN2A (p16) is the prototype of the high-penetrance, low-prevalence gene related to melanoma. This gene has been studied in some families in which several members have been diagnosed with melanoma. In the general population with non-familial melanoma, low-penetrance, high-prevalence genes such as MC1R seem to be more interesting. Studies on the MC1R gene have not only shown its importance in skin and hair pigmentation, but also in the development of melanoma. Functional studies on CDKN2A and MC1R have led us to new and important conclusions. The analysis of data from studies on families, twins and control cases, with the collaboration of several countries, will lead us to new discoveries. For the primary and secondary prevention of this tumor, we must promote public health campaigns on the dangers of sun exposure and the identification of individuals at high risk.

Genes, Tumor Suppressor↗
PubMed2002

Surfactant proteins and genetic predisposition to respiratory distress syndrome.

Respiratory distress syndrome (RDS) is caused by surfactant deficiency at birth. The risk of RDS decreases from the gestational age of 24 weeks to full-term. Genetic and acquired factors additionally influence the risk of RDS. Surfactant deficiency in RDS is mainly caused by immaturity and a lack of differentiation of the alveolar epithelial cells involved in surfactant synthesis and secretion. A network of hormones and growth factors regulate perinatal development. Host-related factors, including the levels of expression of surfactant proteins (SP), modulate the responsiveness of growth factors. SP-A has roles in surface activity and regulatory roles particularly in innate immunity; SP-B is essential for the processing of surfactant and for the surface activity; SP-C has roles in surfactant metabolism and function; the regulatory roles of SP-D mainly pertain to innate immunity. The genetic variation of SP-A and SP-B genes and the risk of RDS have been studied. Both SP-A and SP-B associate with susceptibility to RDS. The association between the SP-A allele and genotypes and the risk of RDS is dependent on the SP-B genotype and significantly influenced by the degree of prematurity, antenatal glucocorticoid therapy, multiple birth, and birth order. The alleles/genotypes of SP-A, SP-C, or SP-D also associate with several other inflammatory lung and airway diseases. Rare mutations in SP-B or SP-C cause serious, often fatal lung diseases. Genetic and post-genomic research is likely to eventually result in new diagnostic applications and specific therapies for the prevention of respiratory failure and inflammatory lung diseases.

Embryonic and Fetal Development↗
PubMed2003

Genetic predisposition to external apical root resorption in orthodontic patients: linkage of chromosome-18 marker.

External apical root resorption (EARR) is a common orthodontic treatment sequela. Previous studies implicate a substantial genetic component for EARR. Using a candidate gene approach, we investigated possible linkage of EARR associated with orthodontic treatment with the TNSALP, TNFalpha, and TNFRSF11A gene loci. The sample was comprised of 38 American Caucasian families with a total of 79 siblings who completed comprehensive orthodontic treatment. EARR was assessed by means of pre- and post-treatment radiographs. Buccal swab cells were collected for extraction and analysis of DNA. No evidence of linkage was found with EARR and the TNFalpha and TNSALP genes. Non-parametric sibling pair linkage analysis identified evidence of linkage (LOD = 2.5; p = 0.02) of EARR affecting the maxillary central incisor with the microsatellite marker D18S64 (tightly linked to TNFRSF11A). This indicates that the TNFRSF11A locus, or another tightly linked gene, is associated with EARR.

Child↗
PubMed1997

[Genetic predisposition in glaucoma].

The comparative study of the genetic factors implication in low-tension and high-tension glaucoma showed the presence of glaucoma familial cases in both form. In 3 cases of low-tension glaucoma the presence of other familial cases of high-tension glaucoma was revealed. The existence of hereditary cases of high-tension glaucoma in families with low-tension glaucoma suggests the existence of some common factors, responsible for producing both affections. On the other hand, the systematic research of the existent glaucomatous deficits at the patients with glaucoma familial cases deserves greater attention.

Disease Susceptibility↗
PubMed1999

[Genetic predisposition for the development of head and neck carcinomas].

BACKGROUND: While cigarette smoking and chronic alcohol consumption are the major risk factors for the development of head and neck cancer, it is assumed that genetic factors contribute to risk. Glutathione-S-transferase GSTM1 AB, GSTM3 BB and GSTP1 AA as well as TNF genotypes were determined from leucocyte DNA in 392 patients with head and neck carcinoma and 216 controls, with added immunohistochemical studies. Comparative genomic hybridization was used to screen for genetic alterations in the tumor tissue. RESULTS: While the frequency of GSTM1 AB was significantly lower in all head and neck carcinomas compared with controls, GSTM3 BB was significantly lower in the laryngeal and GSTP1 AA in the oral cavity/pharyngeal carcinoma cases; the frequency of the TNFb3 allele was higher in the laryngeal cases. Chromosomal alterations were specific for head and neck carcinomas, differing both in well differentiated and undifferentiated and in metastasizing and non-metastasizing tumors. CONCLUSIONS: Allelism at GST gene loci mediates susceptibility to head and neck carcinomas: GSTM1 AB is associated with a lower risk for all head and neck carcinomas, GSTM3 BB only for laryngeal carcinomas and GSTP1 AA only for oral cavity/pharyngeal carcinomas. The TNFb3 allele was significantly more frequent in laryngeal cancer patients. The genetic alterations in the tumor tissue are in line with the "tumor progression model". Genetic conditions are important from the first exposure with carcinogens up to late genetic events in the tumor tissue.

Alcohol Drinking↗
PubMed1994

[Genetic predisposition to cancer: familial forms of medullary thyroid cancer and breast cancer].

Most cancers appear to be sporadic. However, 5 to 10% of cancers occur in genetically predisposed individuals. This inherited genetic risk is observed in syndromes such as familial polyendocrinopathies or phacomatosis such as neurofibromatosis, but also in familial aggregations of frequent cancers such as breast or colon cancers. Thanks to studies on molecular genetics, it has been possible over the last ten years to localize and to identify a large number of predisposing genes. These discoveries have permitted to better understand the biological basis of the predisposition and to offer counselling by identifying at-risk individuals in those families. In the case of multiple endocrine neoplasia type 2 associated with an elevated risk for medullary thyroid cancer, the gene involved is a protooncogene named RET and located on chromosome 10. Point mutations affecting specific regions of this gene are the basis of the genetic predisposition. For familial breast cancer, a susceptibility gene named BRCA1 has been located on the long arm of chromosome 17. Mutation of this gene (yet to be identified) led to very elevated risk of breast cancer and also in some families of ovarian cancer.

Breast Neoplasms↗
PubMed2001

Genetic predisposition and treatment-related leukemia.

Treatment-related leukemias are one of the most devastating late complications of cancer therapy. Patients with rare cancer predisposition syndromes including neurofibromatosis type 1 and inherited p53 mutations are at an increased risk for this complication. Other patients may have increased susceptibility because they possess common genetic polymorphisms in drug-metabolizing enzymes that result in impaired detoxification of chemotherapy or inefficient repair of drug-induced genetic damage. We review studies that have identified a potential role for polymorphisms in the genes encoding the glutathione-S-transferases (GSTs), NAD(P) H: quinone oxidoreductase, myeloperoxidase, N-acetyltransferase (NATs), cytochrome P450 (CYP) 1A1 and 3A4, methylenetetrahydrofolate reductase (MTHFR), cystathionine-beta-synthase (CBS), and others in the etiology of primary or secondary acute leukemias, and therapy-related complications. The identification of high risk polymorphisms and use of pharmacogenetically-guided therapies holds promise to improve the outcome of cancer therapy and reduce the risk of treatment-related leukemias.

Genetic Predisposition to Disease↗