Hereditary breast cancer is frequently due to a germline heterozygous mutation of either Brca1 or Brac2. However, familial breast cancer accounts for only a small minority of breast cancer cases. Sporadic breast cancer, on the other hand, represents 90% o...
National Technical Information Service (NTIS)
... Accession Number : ADA407356. Title : Breast Tumor Kinetics in Mice Overexpressing Cyclin E and Heterozygous for Tumor Suppressor p53 or Rb. ...
DTIC Science & Technology
... S., Seal, S., Mangion, J., Collins, N., Gregory, S., Gumbs, C., and Micklem, G. Identification of the breast cancer susceptibility gene BRCA2, Nature. ...
... cases and 46,000 deaths are reported in United State alone(1). Germ-line mutations in the breast cancer susceptibility genes BRCA2 and BRCA1 ...
This paper describes the study of the markers of cellular changes that are found during the onset of
NASA Technical Reports Server (NTRS)
The ATM gene is mutated in the autosomal recessive disorder, ataxia telangiectasia (A-T), which is characterised by cancer predisposition, cerebellar ataxia and immunodeficiency. One of the most controversial topic in breast cancer genetics is whether mut...
Improvement in Screening Radiologists� Performance in an Organized Screening Program Nancy A. T. Wadden, MD, FRCPC Gregory Doyle, BSc, MBA Breast Screening Program for Newfoundland and Labrador Canada Background � Breast Screening Program for Newfoundland
Cancer.gov
Five lines of skin fibroblasts from individuals heterozygous for ataxia-telangiectasia (A-T), compared with six cell lines from age-matched normal controls, show a much higher frequency of chromatid breaks and gaps following x-irradiation during the G2 phase of the cell cycle. The magnitude of this difference suggests that G2 chromatid radiosensitivity ...
Energy Citations Database
Autologous isolates of cell types from obligate heterozygotes with the autosomal disorder ataxia-telangiectasia (A-T)were used to begin a tissue culture model for assessing pathways of radiation-induced cancer formation in this target tissue. This was don...
Deregulated expression of cyclin E may play a role in tumorigenesis through the induction of genomic instability. We generated mice heterozygous for the tumor suppressor p53 or Rb and with an inducible transgene of either wildtype human cyclin E or a hype...
Heterozygous somatic mutations of the transcription factor, GATA-3, have recently been reported in approximately 5% breast of tumors unselected for family history. We sequenced the GATA-3 gene in 55 breast tumors from women with familial breast cancer, and found seven heterozygous somatic ...
PubMed
... cells. On the base of HCT116 p220N1'A/t10x cell, the stable HCT 116 p220NFAI/L2t1°XER-Cre was established. Through ...
... of this project is that fetuin-A is a major serum derived growth factor for ... So far we have managed to get PymT+/Fet-/+ heterozygous animals that are ...
Fabry-Perot Interferometer-Based Electrooptic Modulator. Using LiNbO3 and Organic Thin FilmsAbstract ...... Lake, CA, and the Correction of Diagnosis for Genus .... Irradiated HMEC From AT Heterozygous Breast. TissueAbstract Only. ...
NASA Website
The purpose of this project was to test whether deregulated cyclin E in the mammary epithelia predisposes to chromosomal instability and hence tumorigenesis. To test this hypothesis, based on in vitro work (Spruck et al. 1999), we generated transgenic mic...
The purpose of this project is to test whether deregulated cyclin E in the mammary epithelia predisposes to chromosomal instability and hence mammary tumorigenesis. To test this hypothesis based on in vitro work we have crossed transgenic mice expressing ...
The effect of anisotonic NaCl treatment on fixation and repair of radiation-induced potentially lethal damage (PLD) was tested in normal human cells and in three homozygous ataxia-telangiectasia (A-T) and two heterozygous A-T cells strains. This effect was observed in both plateau-phase and exponentially growing normal and A-T cells. ...
Breast and ovarian cancer susceptibility gene 1 (BRCA1) was identified from the genomic analysis of breast cancer families. Women heterozygous for a germ line mutation in the BRCA1 gene have a high risk of developing breast or ovarian cancers. BRCA1-mutant mice were created to study the function of BRCA1, but the ...
Breast cancer is by far the most frequently diagnosed cancer in women Each year over 186,000 new cases and 46,000 deaths are reported in United State alone(1). Germ-line mutations in the breast cancer susceptibility genes BRCA2 and BRCA1 confer susceptibi...
Macroautophagy is associated with type II programmed cell death. Beclin 1 regulates macroautophagy. Overexpression of Beclin promotes autophagy and inhibits tumorigenesis in breast carcinoma cells, and conversely, heterozygous disruption of the Beclin gen...
Macroautophagy plays a pivotal role in type II programmed cell death. Beclin 1 regulates macroautophagy. Over expression of Beclin has been reported to promote autophagy and inhibit tumorigenesis in breast carcinoma cells, and conversely, heterozygous dis...
Macroautophagy plays a pivotal role in type II programmed cell death. Beclin 1 regulates macroautophagy. Overexpression of Beclin promotes autophagy and inhibits tumorigenesis in breast carcinoma cells, and conversely, heterozygous disruption of the Becli...
IntroductionAtaxia-telangiectasia is an autosomal-recessive disease that affects neuro-immunological functions, associated with increased susceptibility to malignancy, chromosomal instability and hypersensitivity to ionizing radiation. Although ataxia-telangiectasia mutated (ATM) heterozygous deficiency has been proposed to increase susceptibility to ...
PubMed Central
A portion of familial breast cancer cases are caused by mutations in the same genes that are inactivated in the downstream part of Fanconi anemia (FA) signaling pathway. Here we have assessed the FANCA gene for breast cancer susceptibility by examining blood DNA for aberrations from 100 Northern Finnish breast cancer families using the ...
It is important to know whether the human population includes genetically predisposed radiosensitive subsets. In vitro studies have shown that cells from individuals homozygous for ataxia telangiectasia (A-T) are much more radiosensitive than cells from unaffected individuals. Although cells heterozygous for the ATM gene (ATM+/?) may ...
Heterozygous germ line mutations in the Breast CAncer1 (BRCA1) and BRCA2 genes can lead to a high risk of breast and ovarian cancer, in addition to a significantly increased susceptibility of pancreatic, prostate and male breast cancer. The BRCA2 belongs to the tumor suppressor gene family and the protein encoded ...
Deletion of chromosome 6q is frequent in breast cancer, and the deletion often involves a region in 6q14-q16. At present, however, the underlying tumor suppressor gene has not been established. Based on a recent study identifying snoRNA U50 as a candidate for the 6q14-16 tumor suppressor gene in prostate cancer, we investigated whether U50 is also involved in ...
Base excision repair (BER) and nucleotide excision repair (NER) pathways repair damaged DNA, and polymorphisms in these genes might affect breast cancer susceptibility. We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and ...
The risk of breast and other cancers are being determined in a cohort of family members of ataxia-telangiectasia patients. Four Nordic cancer registries are participating in this record linkage study and 56 families have been identified. Using the registry based approach overcomes the problem of biased reporting of cancer history among family members. A-T ...
Breast and ovarian cancer are among the most common malignancies diagnosed in women worldwide. Together, they account for the majority of cancer-related deaths in women. These cancer types share a number of features, including their association with hereditary cancer syndromes caused by heterozygous germline mutations in BRCA1 or BRCA2. BRCA-associated ...
Evidence that HTR2A receptor gene may be subject to genomic imprinting prompted us to examine a collection of family trios for evidence of an association between the HTR2A T102C polymorphism and psychosis in schizophrenia or bipolar disorder. We also tested for the possibility of imprinting by employing quantitative RT-PCR to measure the relative ...
Beh�et's disease is a chronic, relapsing, multisystem inflammatory disease of unknown etiology. Nuclear factor ?B (NF-?B) essential modulator (NEMO) that is required for the activation of NF-?B plays an important role in inflammation. To investigate the role of NEMO in the pathogenesis of Beh�et's disease, we analyzed NEMO gene and its expression pattern in tissues in a family with Beh�et's ...
WT1 mutations have been described in a variety of syndromes, including Denys-Drash syndrome (DDS), which is characterized by predisposition to Wilms' tumor, genital abnormalities and development of early nephropathy. The most frequent WT1 defects in DDS are missense mutations located in exons 8-9. Our aim is to report a novel WT1 mutation in a 46,XY patient with a DDS variant, who presented a mild ...
... with Brcal heterozygous animals followed by breeding with bitransgenic animals heterozygous ... bitransgenic animals with Brcal heterozygous mice. ...
Breast cancer is the most common malignancy in women. The recently identified tumor suppressor gene PTEN has turned out to be a promising candidate for mammary tumorigenesis. Mice heterozygous for PTEN develops mammary tumors starting from 6 weeks. The go...
Breast cancer is the most common malignancy in women. The recently identified tumor suppressor gene PTEN has turned out to be a promising candidate for mammary tumorigenesis. Mice heterozygous for Pten develops mammary tumors starting from 6 weeks. The go...
Breast cancer is the most common malignancy in women. The recently identified tumor suppressor- gene PTEN has turned out to be a promising candidate for mammary tumorigenesis. Mice heterozygous for Pten develops mammary tumors starting from 6 weeks. The g...
To study the effects of inactivating mutations in the p53 and BRCA1 genes early in the breast cancer pathway, we will develop genetically defined human mammary epithelial cell (HMEC) lines by introducing heterozygous and homozygous mutations of each gene ...
We report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia (A-T) patients in the British Isles. Of 51 ATM mutations identified in families native to the British Isles, 11 were founder mutations, and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features. We report, in two A-T ...
Patients treated with conservative surgery and radiation therapy for early-stage breast cancer develop a contralateral breast cancer at a rate of approximately 0.75% per year. Ataxia-telangiectasia (AT) is an autosomal recessive disease that is characterized by increased sensitivity to ionizing radiation (IR) and cancer susceptibility. Epidemiologic ...
Uridine diphospho-glucuronosyltransferase 1 (UGT1A1) is involved in estradiol glucuronidation, which may play a central role in the etiology of breast cancer. A common insertion/deletion polymorphism in the TATAA-box of the promoter region of UGT1A1 results in decreased initiation of transcription, and has been associated with breast cancer risk in ...
Inherited mutations in the BRCA2-interacting protein PALB2 are known to be associated with increased risks of developing breast cancer. To evaluate the contribution of PALB2 to familial breast cancer in the United States, we sequenced the coding sequences and flanking regulatory regions of the gene from constitutional genomic DNA of 1,144 familial ...
Recently, a second susceptibility gene for hereditary breast and ovarian cancer, BRCA2, was cloned. The subsequent identification of heterozygous germ-line mutations confirmed its role as a predisposing factor in a subset of familial breast and ovarian cancer families. The possible involvement of BRCA2 in the sporadic forms of ...
?-Thalassemia is one of the most prevalent inherited diseases in China. To date, over 20 ?-thalassemia mutations have been identified in the Chinese population, and four mutations [CD41-42 (-4?bp), IVS-2-654C?T, CD17A?T, and -28A?G] account for approximately 90% of the cases. Therefore, the exploration of simple, reliable, and rapid approaches for molecular detection of these ...
PurposeTo identify the gene causing a severe form of progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease and to characterize clinical features in a large American family.MethodsWe characterized an American family who had an unusual retinal dystrophy with clinical features of Stargardt disease and severe progressive cone-rod dystrophy. Family members underwent ...
We are studying the induction and repair of DNA damage in lymphocytes of women from families with familial breast cancer and a heterozygous mutation in the breast cancer susceptibility genes BRCA1 or BRCA2. Besides various other functions, BRCA proteins seem to be involved in DNA repair processes like transcription-coupled and ...
The effectiveness of cancer radiotherapy is compromised by the small proportion (approximately 5%) of patients who sustain severe normal tissue damage after standard radiotherapy treatments. Predictive tests are required to identify these highly radiosensitive cases. Patients with the rare, recessively inherited, cancer-prone syndrome ataxia-telangiectasia (A-T) sustain ...
The PTEN gene is often mutated in primary human tumors and cell lines, but the low rate of somatic PTEN mutation in human breast cancer has led to debate over the role of this tumor suppressor in this disease. The involvement of PTEN in human mammary oncogenesis has been implicated from studies showing that germline PTEN mutation in Cowden disease predisposes to ...
E-print Network
Biallelic inactivation of ATM gene causes the rare autosomal recessive disorder Ataxia-telangiectasia (A-T). Female relatives of A-T patients have a two-fold higher risk of developing breast cancer (BC) compared with the general population. ATM mutation carrier identification is laborious and expensive, therefore, a more rapid and directed strategy for ATM ...
A primary mechanism of radiation-induced DNA damage is by generation of free radicals. Chronically increased oxidative stress from elevated body iron may increase radiation sensitivity by decreasing cellular oxygen radical scavenging capability. Hemochromatosis heterozygotes have elevated body iron. Low-level radiation sensitization by iron may be particularly pertinent for risk of ...
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