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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
Gynecologic Cancers in Lynch Syndrome/HNPCC
Springer Science and Business Media LLC - Tập 4 - Trang 249-254 - 2005
H. Karen Lu, Russell R. Broaddus
Recent studies have estimated that the lifetime risk of endometrial cancer in women with Lynch syndrome/hereditary non-polyposis colorectal cancer syndrome (Lynch/HNPCC) is 40–60%. This risk equals or exceeds their risk for colon cancer. While much research has been done to define the natural history and molecular features of Lynch/HNPCC associated colon cancer, there has been considerably less re...... hiện toàn bộ
Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome
Springer Science and Business Media LLC - - 2013
Marry H. Nieuwenhuis, C. Marleen Kets, Maureen Murphy-Ryan, Helger G. Yntema, D. Gareth Evans, Chrystelle Colas, Pal Møller, Frederik J. Hes, Shirley V. Hodgson, Maran J. W. Olderode-Berends, Stefan Aretz, Karl Heinimann, Encarna B. Gómez García, Fiona Douglas, Allan Spigelman, Susanne Timshel, Noralane M. Lindor, Hans F. A. Vasen
Patients with germline PTEN mutations are at high risk of developing benign and malignant tumours. We aimed to evaluate the cumulative risk of several types of cancer and of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease, LDD). In addition, genotype–phenotype correlations in PTEN hamartoma tumour syndrome (PHTS) were assessed. Data on patients with PTEN mutations were collected from...... 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
An unusual BRCA mutation distribution in a high risk cancer genetics clinic
Springer Science and Business Media LLC - Tập 12 Số 1 - Trang 83-87 - 2013
Anna C. Nelson-Moseke, Joanne Jeter, Haiyan Cui, Denise J. Roe, Setsuko K. Chambers, Christina M. Laukaitis
Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma
Springer Science and Business Media LLC - - 2010
Mohamed H. Abdel‐Rahman, Robert Pilarski, Sameera Ezzat, Jennifer Sexton, Frederick H. Davidorf
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
Quality of life in patients with multiple endocrine neoplasia type 1 (MEN1)
Springer Science and Business Media LLC - Tập 2 - Trang 27-33 - 2003
G. Berglund, A. Lidén, M. G. Hansson, K. Öberg, P. O. Sjöden, K. Nordin
To study quality of life among patients living with a hereditary tumor syndrome, the small group with multiple endocrine neoplasia type 1 (MEN1) was selected. It is characterized by multifocal adenomas of the pancreas, parathyroid, anterior pituitary and other endocrine glands. Patients were assessed at an in-hospital stay and six months later at home. Patients at a specialist ward for MEN1 were r...... 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
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