Search Results - "Tischkowitz, M"

Fanconi anaemia: genetics, molecular biology, and cancer - implications for clinical management in children and adults by Schneider, M., Chandler, K., Tischkowitz, M., Meyer, S.

“…Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross‐linker hypersensitivity and extreme cancer predisposition…”
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Fanconi anaemia by Tischkowitz, M D, Hodgson, S V

“…Fanconi anaemia (FA) is an autosomal recessive disease characterised by congenital abnormalities, defective haemopoiesis, and a high risk of developing acute…”
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Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes by Cubuk, C., Garrett, A., Choi, S., King, L., Loveday, C., Torr, B., Burghel, G. J., Durkie, M., Callaway, A., Robinson, R., Drummond, J., Berry, I., Wallace, A., Eccles, D., Tischkowitz, M., Whiffin, N., Ware, J. S., Hanson, H., Turnbull, C., CanVIG-UK

“…Purpose Where multiple in silico tools are concordant, the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP)…”
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Compromised BRCA1–PALB2 interaction is associated with breast cancer risk by Foo, T K, Tischkowitz, M, Simhadri, S, Boshari, T, Zayed, N, Burke, K A, Berman, S H, Blecua, P, Riaz, N, Huo, Y, Ding, Y C, Neuhausen, S L, Weigelt, B, Reis-Filho, J S, Foulkes, W D, Xia, B

“…The major breast cancer suppressor proteins BRCA1 and BRCA2 play essential roles in homologous recombination (HR)-mediated DNA repair, which is thought to be…”
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Fanconi anaemia and leukaemia – clinical and molecular aspects by Tischkowitz, Marc, Dokal, Inderjeet

“…Summary Fanconi anaemia (FA) is an autosomal recessive chromosomal instability disorder, which is characterized by congenital abnormalities, defective…”
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Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer by Speight, B., Colvin, E., Epurescu, E. D., Drummond, J., Verhoef, S., Pereira, M., Evans, D. G., Tischkowitz, M.

“…Abstract Germline pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. The vast majority of these variants are inherited from a…”
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Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting by Schon, K., Rytina, E., Drummond, J., Simmonds, J., Abbs, S., Sandford, R., Tischkowitz, M.

“…Summary Background Muir–Torre syndrome (MTS) is a subtype of Lynch syndrome, which encompasses the combination of sebaceous skin tumours or keratoacanthomas…”
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Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families by Osher, D J, De Leeneer, K, Michils, G, Hamel, N, Tomiak, E, Poppe, B, Leunen, K, Legius, E, Shuen, A, Smith, E, Arseneau, J, Tonin, P, Matthijs, G, Claes, K, Tischkowitz, M D, Foulkes, W D

“…Background: Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an…”
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Rapid disease progression in a patient with mismatch repair-deficient and cortisol secreting adrenocortical carcinoma treated with pembrolizumab by Casey, R.T., Giger, O., Seetho, I., Marker, A., Pitfield, D., Boyle, L.H., Gurnell, M., Shaw, A., Tischkowitz, M., Maher, E.R., Chatterjee, V.K., Janowitz, T., Mells, G., Corrie, P., Challis, B.G.

“…Metastatic adrenocortical carcinoma (ACC) is an aggressive malignancy with a poor prognosis and limited therapeutic options. A subset of ACC is due to Lynch…”
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Informed decision-making is the key in women at high risk of breast cancer by Taylor, A, Tischkowitz, M

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Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations? by Evans, D. G., Clancy, T., Hill, J., Tischkowitz, M.

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Opportunities and challenges of next-generation DNA sequencing for breast units by Pilgrim, S. M., Pain, S. J., Tischkowitz, M. D.

“…Background The aim of this review is to introduce the topic of next‐generation DNA sequencing, a new technology that is being introduced into clinical…”
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Germline DICER1 mutations and familial cystic nephroma by Bahubeshi, Amin, Bal, Nebil, Rio Frio, Thomas, Hamel, Nancy, Pouchet, Carly, Yilmaz, Ahmet, Bouron-Dal Soglio, Dorothée, Williams, Gretchen M, Tischkowitz, Marc, Priest, John R, Foulkes, William D

“…Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neoplasms including cystic partially differentiated…”
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Dermatological manifestations of inherited cancer syndromes in children by Karalis, A., Tischkowitz, M., Millington, G.W.M.

“…Summary Various cutaneous signs presenting in childhood, for example café‐au‐lait macules, may have systemic cancer associations. Indeed, this may be the first…”
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Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study by Mitra, Anita V., Bancroft, Elizabeth K., Barbachano, Yolanda, Page, Elizabeth C., Foster, C. S., Jameson, C., Mitchell, G., Lindeman, G. J., Stapleton, A., Suthers, G., Evans, D. G., Cruger, D., Blanco, I., Mercer, C., Kirk, J., Maehle, L., Hodgson, S., Walker, L., Izatt, L., Douglas, F., Tucker, K., Dorkins, H., Clowes, V., Male, A., Donaldson, A., Brewer, C., Doherty, R., Bulman, B., Osther, P. J., Salinas, M., Eccles, D., Axcrona, K., Jobson, I., Newcombe, B., Cybulski, C., Rubinstein, W. S., Buys, S., Townshend, S., Friedman, E., Domchek, S., Ramon y Cajal, T., Spigelman, A., Teo, S. H., Nicolai, N., Aaronson, N., Ardern‐Jones, A., Bangma, C., Dearnaley, D., Eyfjord, J., Falconer, A., Grönberg, H., Hamdy, F., Johannsson, O., Khoo, V., Kote‐Jarai, Z., Lilja, H., Lubinski, J., Melia, J., Moynihan, C., Peock, S., Rennert, G., Schröder, F., Sibley, P., Suri, M., Wilson, P., Bignon, Y. J., Strom, S., Tischkowitz, M., Liljegren, A., Ilencikova, D., Abele, A., Kyriacou, K., van Asperen, C., Kiemeney, L., Easton, D. F., Eeles, Rosalind A.

“…Study Type – Diagnostic (validating cohort)
Level of Evidence 1b What’s known on the subject? and What does the study add? Scientists have found a number of…”
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Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma by Murray, M J, Bailey, S, Raby, K L, Saini, H K, de Kock, L, Burke, G A A, Foulkes, W D, Enright, A J, Coleman, N, Tischkowitz, M

“…DICER1 is a critical gene in the biogenesis of mature microRNAs, short non-coding RNAs that derive from either -3p or -5p precursor microRNA strands. Germline…”
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Deletion and reduced expression of the fanconi anemia FANCA gene in sporadic acute myeloid leukemia by TISCHKOWITZ, M. D, MORGAN, N. V, GRIMWADE, D, EDDY, C, BALL, S, VORECHOVSKY, I, LANGABEER, S, STÖGER, R, HODGSON, S. V, MATHEW, C. G

“…Fanconi anemia (FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA,C,D2,E,F,G and BRCA2)…”
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A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer by Delon, I, Taylor, A, Molenda, A, Drummond, J, Oakhill, K, Girling, A, Liu, H, Whittaker, J, Treacy, R, Tischkowitz, M

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Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population by Castellsagué, E., Liu, J., Volenik, A., Giroux, S., Gagné, R., Maranda, B., Roussel-Jobin, A., Latreille, J., Laframboise, R., Palma, L., Kasprzak, L., Marcus, V.A., Breguet, M., Nolet, S., El-Haffaf, Z., Australie, K., Gologan, A., Aleynikova, O., Oros-Klein, K., Greenwood, C., Mes-Masson, A.M., Provencher, D., Tischkowitz, M., Chong, G., Rousseau, F., Foulkes, W.D.

“…We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec. We…”
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Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing by De Leeneer, K., Van Bockstal, M., De Brouwer, S., Swietek, N., Schietecatte, P., Sabbaghian, N., Van den Ende, J., Willocx, S., Storm, K., Blaumeiser, B., Van Asperen, C. J., Wijnen, J. T., Leunen, K., Legius, E., Michils, G., Matthijs, G., Blok, M. J., Gomez-Garcia, E., De Paepe, A., Tischkowitz, M., Poppe, B., Claes, K.

“…Despite extensive analysis of the BRCA1 and BRCA2 genes, germline mutations are detected in <20% of families with a presumed genetic predisposition for breast…”
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