Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0006142 (breast cancer)
 160,383 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new method for analyzing concordance for a binary variable in extended pedigrees was developed to study tumor laterality in families with high incidence of breast cancer. It was found that related breast cancer patients in 15 high-risk Midwestern US families did not have their tumors on the same side more frequently than would be expected by chance. This finding is in contrast to previous studies in London and Denmark that reported a significant concordance for tumor laterality in related breast cancer patients. This result may reflect an increasing incidence of sporadic breast cancer in genetically susceptible families or, alternatively, independent determination of cancer susceptibility and tumor laterality.
 ...
PMID:Laterality of breast cancer in families. 46 67

Genes, which are implicated in the pathogenesis of human tumors, may demonstrate Restriction Fragment Length Polymorphism (RFLP). Population studies of such RFLP are of potential interest for a genetic analysis of cancer susceptibility. The initial data of Krontiris et al has shown a significant increase of rare c-Ha-ras-1 alleles in individuals with tumors. Since then, other significant associations have been found between other genes RFLPs and various tumors. In this paper, we report that L-myc RFLP may prove useful in identifying breast cancer patients at high risk of developing lung metastases.
 ...
PMID:[Association studies in cancerology: the example of gene L-myc polymorphism associated with the incidence of pulmonary metastases in breast cancers]. 130 34

Mutations in the p53 gene are the commonest specific genetic change in human cancer. In normal tissues, p53 protein is present in such low quantities that it is not readily detectable by immunochemical techniques. However, in many tumour cells large amounts of p53 protein accumulate and can be seen by simple immunohistochemical staining; this is generally attributed to the accumulation of stabilised, mutant protein. We have found a mother and daughter, who both have a history of breast cancer, who show strong immunohistochemical staining of p53 in most of their normal epithelial and mesenchymal cells. Their family has a history of multiple cancers developing at an early age. Detailed protein analysis and gene sequencing of material obtained from cultured cells, grown from a skin biopsy taken from the daughter, suggest that her cells contained large quantities of normal (unmutated) p53. We suggest that this phenotype defines a new inherited cancer susceptibility syndrome that is distinct from the germ-line mutations in p53 found in some Li-Fraumeni families. This new syndrome affects p53 tumour suppressor function through an indirect mechanism that stabilises normal p53. It remains to be established whether this mechanism also contributes to the accumulation of p53 in sporadic cancers.
 ...
PMID:Abnormal expression of wild type p53 protein in normal cells of a cancer family patient. 135 90

Ataxia telangiectasia (AT) is a hereditary disease transmitted in a recessive mode and characterized by chromosomal instability and radiosensitivity. AT patients have a 100-fold higher risk of cancer than the general population. Although AT is a rare disease of which the frequency has been estimated to be 1/40,000, the frequency of the heterozygosity status, when assessed with the Hardy-Weinberg equation is high (about 1.4%). Parents of AT children, thus obligate AT carriers, show chromosomal instability and radiosensitivity, but at a lower level than AT patients. Assuming that these AT characteristics deal with the cancer predisposition, it can be hypothesized that AT heterozygote individuals have a higher cancer susceptibility than the general population. To test this hypothesis, M Swift's group compared cancer incidence rates from adult blood relatives of AT patients with controls. The risk of cancer in AT heterozygotes could be increased by 3.5 and, for carrier women, the breast cancer risk could be increased by 5.1. Actually, the diagnosis of the AT heterozygote status is not possible. However, the near cloning of the gene (or genes) for the disease will permit to identify the AT carriers in a population of patients suffering from cancer and to assess precisely the impact of AT heterozygosity in the genetic predisposition to cancer.
 ...
PMID:[Ataxia telangiectasia: what impact in clinical oncology?]. 146 90

Ataxia-telangiectasia (A-T) is a syndrome that has an extremely high incidence of cancer. Patients with the disease are homozygous for a mutant gene, the A-T gene, located at 11q23. Of these individuals, 30-40% develop cancer. Of these cancers, 80% are lymphoid. Those heterozygous for the A-T gene also have an increased frequency of cancer, the most notable being the 6.8-fold increase of breast cancer in females carriers. The syndrome is characterized cytogenetically by increased nonrandom chromosome breaks and rearrangements in lymphocytes involving the sites of the immunoglobulin and T-cell receptor genes. Clones of cells having the same rearrangements are often present in the blood of the A-T patients and if the rearrangements involve certain sites, especially a locus within 14q32, the propensity to progress to a malignant transformation is great. Sequencing the A-T gene and ascertaining its function should contribute significantly to our understanding of the molecular mechanisms underlying cancer susceptibility.
 ...
PMID:Cancer susceptibility in ataxia-telangiectasia. 154 42

Recent evidence has implicated germ-line mutations of the p53 gene as the cause of cancer susceptibility in the Li-Fraumeni syndrome, associated with the development of breast cancer and other neoplasms. Furthermore, somatic mutations of the p53 gene have been detected in a high percentage of non-familial breast cancers. We therefore sought to identify potential carriers of p53 gene mutations in a cohort of patients with early onset breast cancer. We examined 126 consecutive patients who developed breast cancer at or before the age of 40 for mutations of p53 within conserved regions of the gene. One patient with an inherited germ-line mutation of the p53 gene was identified but the functional significance of this mutation was not clear. It thus appears that only a small percentage of patients with breast cancer under the age of 40 carry germ-line mutations of the p53 gene, an observation which has implications for potential screening and risk assessment in such patients.
 ...
PMID:Inherited p53 gene mutations in breast cancer. 158 12

Ataxia-telangiectasia is a syndrome with many facets, involving a progressive cerebellar ataxia, immunodeficiency, cancer susceptibility, radiosensitivity, defects in DNA repair/processing, chromosomal breakage and rearrangements, elevated serum alphafetoprotein, and premature aging. Ataxia-telangiectasia is an autosomal recessive disorder, rare in outbred populations; carriers of the ataxia-telangiectasia gene may be as common as 1 in 60 and have subclinical radiosensitivity and cancer susceptibility. One estimate suggests that 8.8% of patients with breast cancer could be carriers of ataxia-telangiectasia. These carriers may be responsible for underestimating normal tolerance doses for radiation therapy by 15% to 20%; thus by preselecting and excluding carriers of ataxia-telangiectasia from cohorts of patients with cancer, conventional radiation doses might be increased so as to improve greatly the efficacy of radiotherapy. The genes for the 3 most common ataxia-telangiectasia complementation groups, which include 97% of tested families, have recently been localized to the long arm of chromosome 11.
 ...
PMID:Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. 200 80

Only a small proportion of cancers, arising in inherited syndromes such as polyposis coli, have an unequivocally inherited basis. Nevertheless, most common cancers show familial clustering, much of which may be due to inherited predisposition. If so, there may be wide variation in genetic susceptibility to common cancers. The precise models of susceptibility are unclear, but for ovarian cancer and breast cancer there is some evidence that a small proportion of cases result from highly penetrant dominant genes. This has been confirmed recently for breast cancer by genetic linkage studies. Clear evidence for genetic susceptibility has been obtained for Hodgkin's disease and nasopharyngeal carcinoma, where the existence of susceptibility genes at the HLA locus has been demonstrated by linkage analysis. These genes could account for the majority of cases of these cancers. Identification of other cancer susceptibility genes should be possible, either directly using linkage analysis, or through identification of constitutional phenotypes related to cancer risk.
 ...
PMID:The contribution of inherited predisposition to cancer incidence. 210 19

Members of cancer families are at exceptionally high risk and can be studied as human models of cancer susceptibility. These patients represent rare "experiments of nature" that can reveal new insights into carcinogenic processes. We use clinical observations to identify the high risk patient, epidemiological studies to quantitate the excess risk, and laboratory investigations to examine the biological basis of susceptibility. We have uncovered a series of new family cancer syndromes that are under study for molecular mechanisms involved in the pathogenesis of cancers in general. This presentation describes our investigations of four disorders: the syndrome of sarcomas, breast cancer, and other neoplasms; inheritance of both renal cell carcinoma and a constitutional chromosome translocation in a kindred; familial Wilms' tumor; and the hepatoblastoma-adenomatous polyposis association.
 ...
PMID:Cancer families: human models of susceptibility to neoplasia--the Richard and Hinda Rosenthal Foundation Award lecture. 284 81

A rare EcoRI restriction fragment length polymorphism (RFLP) in the 3' end of the human c-mos locus has been identified in DNA from patients with breast tumors, esophageal carcinomas and leukemias. Until now, this RFLP has not been found in normal populations, suggesting that its presence may reflect some cancer susceptibility. To characterize this RFLP, we have isolated both alleles of the c-mos locus from DNA of a breast cancer patient and determined the nucleotide sequence of the polymorphic region. Our results show that this RFLP is due to a single nucleotide substitution (T instead of C), resulting in the disappearance of EcoRI site.
 ...
PMID:A single point mutation responsible for c-mos polymorphism in cancer patients. 289 1


1 2 3 4 5 6 7 8 9 10 Next >>