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Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany
Springer Science and Business Media LLC - Tập 19 - Trang 211-213 - 2020
A. Laner, A. Benet-Pages, B. Neitzel, E. Holinski-Feder
In this study we aim to determine the prevalence of the recently identified pathogenic BRCA1 variant c.-107A > T in the south-east German population. This variant causes the epigenetic silencing of the BRCA1 promotor and has been detected in two independent families from the UK without a germline BRCA1 or BRCA2 pathogenic variant. A total of 3297 individuals with suspicion of hereditary breast and...... hiện toàn bộ
Attenuated familial adenomatous polyposis (AFAP): a review of the literature
Springer Science and Business Media LLC - - 2003
Anne Lyster Knudsen, Marie Luise Bisgaard, Steffen Bülow
Over the last decade, a subset of familial adenomatous polyposis(FAP) patients with a milder course of disease termed attenuated familial adenomatous polyposis (AFAP) has been described. AFAP is not well-defined as a disease entity – the reports on AFAP are largely casuistic or only deal with a few kindreds – and the diagnostic criteria and methods of investigation differ markedly. The true incide...... hiện toàn bộ
Implementing a telephone based peer support intervention for women with a BRCA1/2 mutation
Springer Science and Business Media LLC - Tập 14 - Trang 373-382 - 2015
Ashley Farrelly, Victoria White, Mary-Anne Young, Michael Jefford, Sandra Ieropoli, Jessica Duffy, Ingrid Winship, Bettina Meiser
Women with a BRCA1/2 gene mutation face complex risk management decisions and communication issues that can lead to increased levels of distress and unmet needs. We describe the implementation of a peer-support program that aims to reduce distress among women with a BRCA1/2 mutation, including peer and support recipient satisfaction with the program, challenges and lessons learnt. Participants wit...... hiện toàn bộ
Value-based healthcare in Lynch syndrome
Springer Science and Business Media LLC - Tập 12 - Trang 347-354 - 2013
Simone D. Hennink, Nandy Hofland, Jessica P. Gopie, Corinne van der Kaa, Kimberley de Koning, Maartje Nielsen, Carli Tops, Hans Morreau, Wouter H. de Vos tot Nederveen Cappel, Alexandra M. J. Langers, James C. Hardwick, Katja N. Gaarenstroom, Rob A. Tollenaar, Roeland A. Veenendaal, Aad Tibben, Juul Wijnen, Magdalena van Heck, Christi van Asperen, Anne J. Roukema, Daan W. Hommes, Frederik J. Hes, Hans F. A. Vasen
Lynch syndrome (LS), one of the most frequent forms of hereditary colorectal cancer (CRC), is caused by a defect in one of the mismatch repair (MMR) genes. Carriers of MMR defects have a strongly increased risk of developing CRC and endometrial cancer. Over the last few years, value-based healthcare has been introduced as an approach to the cost-effective delivery of measurable patient value over ...... hiện toàn bộ
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group
Springer Science and Business Media LLC - Tập 20 - Trang 327-336 - 2020
Simone Hettmer, Guillaume Dachy, Guido Seitz, Abbas Agaimy, Catriona Duncan, Marjolijn Jongmans, Steffen Hirsch, Iris Kventsel, Uwe Kordes, Ronald R. de Krijger, Markus Metzler, Orli Michaeli, Karolina Nemes, Anna Poluha, Tim Ripperger, Alexandra Russo, Stephanie Smetsers, Monika Sparber-Sauer, Eveline Stutz, Franck Bourdeaut, Christian P. Kratz, Jean-Baptiste Demoulin
Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting in life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and is linked to PDGFRB germline variants. Somatic PDGFRB variants were also detected in s...... hiện toàn bộ
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis
Springer Science and Business Media LLC - Tập 11 - Trang 503-508 - 2012
Rania Abdelmaksoud-Dammak, Imen Miladi-Abdennadher, Ali Amouri, Nabil Tahri, Lobna Ayadi, Abdelmajid Khabir, Foued Frikha, Ali Gargouri, Raja Mokdad-Gargouri
Germline mutations in the base excision repair gene MUTYH have been associated with recessive inheritance of multiple colorectal adenomas. Screening of the MUTYH gene was carried on index cases of 10 unrelated Tunisian families and on available DNA samples from some members. Three germline mutations: c.536A > G (p.Y179C), c.1187 G > A (p.G396D) and c.1227_1228dup (p.Glu410GlyfsX43), were identifie...... hiện toàn bộ
The correlation between a family history of colorectal cancer and survival of patients with colorectal cancer
Springer Science and Business Media LLC - Tập 8 - Trang 555-561 - 2009
Helgi Birgisson, Arezo Ghanipour, Kennet Smedh, Lars Påhlman, Bengt Glimelius
The purpose was to analyze survival of patients with colorectal cancer and a positive family history for colorectal cancer in first degree relatives compared with those with no such family history and to determine whether differences in survival could be explained by known clinico-pathological factors. During 2000–2003, 318 consecutive patients with colorectal cancer answered a written questionnai...... hiện toàn bộ
Colonoscopy and chromoscopy in hereditary colorectal cancer syndromes
Springer Science and Business Media LLC - Tập 15 - Trang 453-455 - 2016
Erin Jenkins Wessling, Stephen J. Lanspa
With hereditary colorectal cancer prevention studies it is difficult to demonstrate reduced mortality. Large populations are needed with well characterized genetics followed over a long period of time. Those studies do exist for standard white light colonoscopy surveillance in Lynch syndrome, but not for newer technologies including chromoscopy. For these newer technologies adenoma detection rate ...... hiện toàn bộ
Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?
Springer Science and Business Media LLC - - 2017
R. El Tannouri, E. Albuisson, P. Jonveaux, E. Luporsi
The aim of the current analysis is to evaluate any differences of breast or ovarian cancer age at diagnosis between mothers and daughters carrying the c.3481_3491del11 mutation in the BRCA1 gene. A study cohort of 38 women carrying the c.3481_3491del11 mutation and affected by first breast or ovarian cancer who reported a first breast or ovarian cancer in their mother carrying the c.3481_3491del11...... hiện toàn bộ
Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation
Springer Science and Business Media LLC - Tập 8 - Trang 379-382 - 2009
Caterina Mian, Susi Barollo, Laura Zambonin, Gianmaria Pennelli, Paolo Bernante, Maria Rosa Pelizzo, Davide Nacamulli, Franco Mantero, Maria Elisa Girelli, Giuseppe Opocher
RET codon 609 point mutations are rare and may predispose to aggressive medullary thyroid carcinoma (MTC). In a kindred with 15 carriers of the Cys609Ser RET mutation we observed no MTC before 17 years of age, no lymph node metastases before 30 years and no distant metastases before 60 years. Two patients developed pheochromocytoma and one had primary hyperparathyroidism a...... hiện toàn bộ
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