Search Results - "Eccles, D. M."

Understanding of BRCA VUS genetic results by breast cancer specialists by Eccles, B K, Copson, E, Maishman, T, Abraham, J E, Eccles, D M

“…Mainstreaming genetic medicine, increased media coverage and clinical trials for BRCA mutation carriers are leading oncologists into more patient discussions…”
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Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies by Antoniou, A., Pharoah, P.D.P., Narod, S., Risch, H.A., Eyfjord, J.E., Hopper, J.L., Loman, N., Olsson, H., Johannsson, O., Borg, Å., Pasini, B., Radice, P., Manoukian, S., Eccles, D.M., Tang, N., Olah, E., Anton-Culver, H., Warner, E., Lubinski, J., Gronwald, J., Gorski, B., Tulinius, H., Thorlacius, S., Eerola, H., Nevanlinna, H., Syrjäkoski, K., Kallioniemi, O.-P., Thompson, D., Evans, C., Peto, J., Lalloo, F., Evans, D.G., Easton, D.F.

“…Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is uncertain and may depend on…”
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Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer by Evans, D G, Howell, A, Ward, D, Lalloo, F, Jones, J L, Eccles, D M

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A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations by Wilson, J R F, Bateman, A C, Hanson, H, An, Q, Evans, G, Rahman, N, Jones, J L, Eccles, D M

“…The Li-Fraumeni Syndrome is caused by a germline TP53 mutation and is associated with a high risk of breast cancer at young ages. Basal (triple negative)…”
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Development of genetic testing for breast, ovarian and colorectal cancer predisposition: a step closer to targeted cancer prevention by Eccles, D M

“…Individuals who inherit a high penetrance cancer susceptibility gene represent a population in which cancer diagnoses occur at younger ages and much more…”
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Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification by BUNYAN, D. J, ECCLES, D. M, CROSS, N. C. P, SILLIBOURNE, J, WILKINS, E, THOMAS, N. Simon, SHEA-SIMONDS, J, DUNCAN, P. J, CURTIS, C. E, ROBINSON, D. O, HARVEY, J. F

“…Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences,…”
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Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies by Antoniou, A C, Pharoah, P D P, Narod, S, Risch, H A, Eyfjord, J E, Hopper, J L, Olsson, H, Johannsson, O, Borg, Å, Pasini, B, Radice, P, Manoukian, S, Eccles, D M, Tang, N, Olah, E, Anton-Culver, H, Warner, E, Lubinski, J, Gronwald, J, Gorski, B, Tulinius, H, Thorlacius, S, Eerola, H, Nevanlinna, H, Syrjäkoski, K, Kallioniemi, O-P, Thompson, D, Evans, C, Peto, J, Lalloo, F, Evans, D G, Easton, D F

“…A recent report estimated the breast cancer risks in carriers of the three Ashkenazi founder mutations to be higher than previously published estimates derived…”
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A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO by Evans, D G R, Eccles, D M, Rahman, N, Young, K, Bulman, M, Amir, E, Shenton, A, Howell, A, Lalloo, F

“…Purpose: To develop a simple scoring system for the likelihood of identifying a BRCA1 or BRCA2 mutation. Methods: DNA samples from affected subjects from 422…”
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The presentation, management and outcome of inflammatory breast cancer cases in the UK: Data from a multi-centre retrospective review by Copson, E., Shaaban, A.M., Maishman, T., Moseley, P.M., McKenzie, H., Bradbury, J., Borley, A., Brzezinska, M., Chan, S.Y.T., Ching, J., Cutress, R.I., Danial, I., Dall, B., Kerin, M., Lowery, A.J., Macpherson, I.R., Romics, L., Sawyer, E., Sharmat, N., Sircar, T., Vidya, R., Pan, Y., Rea, D., Jones, L., Eccles, D.M., Berditchevski, F.

“…Inflammatory Breast cancer (IBC) is a rare but aggressive form of breast cancer. Its incidence and behaviour in the UK is poorly characterised. We collected…”
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Guidelines for a genetic risk based approach to advising women with a family history of breast cancer by Eccles, D M, Evans, D G R, Mackay, J

“…A family history of breast cancer has long been recognised as a significant risk factor for breast cancer. Quantifying that risk has been approached in…”
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Hereditary cancer: guidelines in clinical practice. Breast and ovarian cancer genetics by Eccles, D.M.

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BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance by Eccles, D.M., Mitchell, G., Monteiro, A.N.A., Schmutzler, R., Couch, F.J., Spurdle, A.B., Gómez-García, E.B., Driessen, R., Lindor, N.M., Blok, M.J., Moller, P., de la Hoya, M., Pal, T., Domchek, S., Nathanson, K., Van Asperen, C., Diez, O., Rheim, K., Stoppa-Lyonnet, D., Parsons, M., Goldgar, D.

“…Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation…”
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Polymorphic variation in CYP19 and the risk of breast cancer by Baxter, S.W., Choong, D.Y.H., Eccles, D.M., Campbell, I.G.

“…The production of estrogen from androgen via the estrogen biosynthesis pathway is catalyzed by aromatase P450 (cyp19). We have assessed the frequency of…”
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Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene by ECCLES, D. M, VAN DER LUIJT, R, FODDE, R, BREUKEL, C, BULLMAN, H, BUNYAN, D, FISHER, A, BARBER, J, DU BOULAY, C, PRIMROSE, J, BURN, J

“…Desmoid tumors are slowly growing fibrous tumors highly resistant to therapy and often fatal. Here, we report hereditary desmoid disease (HDD), a novel…”
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Obesity and the outcome of young breast cancer patients in the UK: the POSH study by Copson, E.R., Cutress, R.I., Maishman, T., Eccles, B.K., Gerty, S., Stanton, L., Altman, D.G., Durcan, L., Wong, C., Simmonds, P.D., Jones, L., Eccles, D.M.

“…Obese breast cancer patients have a poorer prognosis than non-obese patients. We examined data from a large prospective cohort study to explore the…”
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The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions by Antoniou, A C, Cunningham, A P, Peto, J, Evans, D G, Lalloo, F, Narod, S A, Risch, H A, Eyfjord, J E, Hopper, J L, Southey, M C, Olsson, H, Johannsson, O, Borg, A, Passini, B, Radice, P, Manoukian, S, Eccles, D M, Tang, N, Olah, E, Anton-Culver, H, Warner, E, Lubinski, J, Gronwald, J, Gorski, B, Tryggvadottir, L, Syrjakoski, K, Kallioniemi, O-P, Eerola, H, Nevanlinna, H, Pharoah, P D P, Easton, D F

“…Multiple genetic loci confer susceptibility to breast and ovarian cancers. We have previously developed a model (BOADICEA) under which susceptibility to breast…”
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Apoptosis, ageing and cancer susceptibility by CAMPLEJOHN, R. S, GILCHRIS, R, EASTON, D, MCKENZIE-EDWARDS, E, BARNES, D. M, ECCLES, D. M, ARDERN-JONES, A, HODGSON, S. V, DUDDY, P. M, EELES, R. A

“…We have previously shown that peripheral blood lymphocytes (PBL) from individuals carrying a germline TP53 mutation show a dramatically reduced apoptotic…”
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Genetic testing in a cohort of young patients with HER2-amplified breast cancer by Eccles, D.M., Li, N., Handwerker, R., Maishman, T., Copson, E.R., Durcan, L.T., Gerty, S.M., Jones, L., Evans, D.G., Haywood, L., Campbell, I.

“…Young age at diagnosis for breast cancer raises the question of genetic susceptibility. We explored breast cancer susceptibility genes testing on ≤40-year-old…”
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Family history and outcome of young patients with breast cancer in the UK (POSH study) by Eccles, B. K., Copson, E. R., Cutress, R. I., Maishman, T., Altman, D. G., Simmonds, P., Gerty, S. M., Durcan, L., Stanton, L., Eccles, D. M.

“…Background Young patients presenting to surgical clinics with breast cancer are usually aware of their family history and frequently believe that a positive…”
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BRCA1 mutations in southern England by ECCLES, D. M, ENGLEFIELD, P, SOULBY, M. A, CAMPBELL, I. G

“…If genetic testing for breast and ovarian cancer predisposition is to become available within a public health care system there needs to be a rational and…”
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