Results 81 to 90 of about 2,530,443 (206)

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012 [PDF]

European Journal of Human Genetics, 2012
Update to: European Journal of Human Genetics (2010) 18, 1069; doi:10.1038/ejhg.2009.232; published online 27 January ...
Nils, Rahner, Verena, Steinke, Brigitte, Schlegelberger, Francois, Eisinger, Pierre, Hutter, Sylviane, Olschwang   +5 more
openaire   +2 more sources

GenProb‐PCSM: A Simplified Weighted Germline Score for Prostate Cancer‐Specific Mortality

The Prostate, EarlyView.
ABSTRACT Background We previously developed a tier‐based germline classification using the National Comprehensive Cancer Network (NCCN)‐recommended DNA damage repair (DDR) genes and KLK3 I179T to predict prostate cancer (PCa)‐specific mortality (PCSM).
Jun Wei, Zhuqing Shi, Lucy Lu, John Wang, Julian Xu, Ashley J. Mulford, Huy Tran, Annabelle Ashworth, S. Lilly Zheng, Alan R. Sanders, William B. Issacs, Jun Luo, Brian Helfand, Jim Lu, Jianfeng Xu   +14 more
wiley   +1 more source

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

, 2005
BACKGROUND & AIMS: Germline mutations in the DNA mismatch repair (MMR) genes MSH2, MSH6, or MLH1 predispose to colorectal cancer (CRC) with an autosomal dominant inheritance pattern.
Joerg Neuweiler, Mirco Menigatti, Jiricny, J, Schär, Primo, Russell, Anna, Kaspar Truninger, Anna Russell, Riehle, H-M, Hueseyin Yurtsever, Marra, Giancarlo, Karl Heinimann, Gebbers, J-O, Schär, P, Judith Luz, Russell, A, Yurtsever, Hueseyin, Fridolin Bannwart, Luz, J, Ritva Haider, Heinimann, K, Truninger, Kaspar, Hans Martin Riehle, Neuweiler, Joerg, Marra, Giancarlo; https://orcid.org/, Heinimann, Karl, Menigatti, Mirco, Jiricny, Josef, Cattaruzza, M S, Cattaruzza, Maria Sofia, Truninger, K, Neuweiler, J, Giancarlo Marra, Menigatti, M, Gebbers, Jan-Olaf, Bannwart, Fridolin, Haider, R, Yurtsever, H, Riehle, Hans-Martin, Haider, Ritva, Bannwart, F, Luz, Judith, Primo Schar, Jan Olaf Gebbers, Josef Jiricny   +43 more
core   +1 more source

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

Frontiers in Genetics, 2020
A genetic diagnosis facilitates personalized cancer treatment and clinical care of relatives at risk, however, although 25% of colorectal cancer cases are familial, around 95% of the families are genetically unresolved.
Malene Djursby, Majbritt B. Madsen, Jane H. Frederiksen, Lukas A. Berchtold, Christina Therkildsen, Gro L. Willemoe, Jane P. Hasselby, Friedrik Wikman, Henrik Okkels, Anne-Bine Skytte, Mef Nilbert, Karin Wadt, Anne-Marie Gerdes, Thomas van Overeem Hansen   +13 more
doaj   +1 more source

What Happens After Menopause (WHAM)? A Progress Report of a Prospective Controlled Study of Women After Pre‐Menopausal Risk‐Reducing Bilateral Salpingo‐Oophorectomy

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Surgical menopause, the removal of both ovaries prior to natural menopause, may impact short‐and long‐term physical and emotional health. An increasingly common cause of surgical menopause is risk‐reducing salpingo‐oophorectomy (RRSO) in those at high inherited risk of ovarian cancer.
Sarah A. L. Price, Pauline M. Maki, Samar R. El Khoudary, Alison Brand, Rakibul M. Islam, Susan M. Domchek, Hadine Joffe, Gita D. Mishra, Katrina M. Moss, Fiona C. Baker, Sabine Braat, John D. Wark, Martha Hickey   +12 more
wiley   +1 more source

Association of the CCR5 gene with juvenile idiopathic arthritis [PDF]

, 2010
The CC chemokine receptor 5 (CCR5) has been shown to be important in the recruitment of T-helper cells to the synovium, where they accumulate, drive the inflammatory process and the consequent synovitis and joint destruction.
Martin, P., BSPAR Study Group, Barton, A., UKRAG Consortium, Worthington, J., Gardner-Medwin, J. [CAPS and BSPAR Study Groups], Thomson, W., W Thomson, Flynn, E., A Hinks, E Flynn, J Packham, Packham, J., Hinks, A., S Eyre, J Worthington, Eyre, S.; id_orcid, Eyre, S., Barton, A.; id_orcid, P Martin, Childhood Arthritis Prospective Study (CAPS), Martin, P.; id_orcid, A Barton   +22 more
core   +1 more source

Molecular profiling of pediatric medulloblastoma in Kazakhstan: Genomic alterations, subgroup distribution, and survival

Brain Pathology, EarlyView.
A practical formalin‐fixed, paraffin‐embedded (FFPE)‐based molecular workflow integrating pathology, immunohistochemistry, and genomic profiling provides clinically meaningful subgroup classification of pediatric medulloblastoma and expands molecular evidence from an underrepresented Central Asian population. Abstract Medulloblastoma is the most common
Aidos Bolatov, Askhat Zhakupov, Aizhan Abdikadirova, Malika Sapargaliyeva, Bakytkali Ibraimov, Zhanat Zhalimbetova, Gabit Ólenbay, Berik Zhetpisbayev, Xingzhi Xu, Mirgul Bayanova   +9 more
wiley   +1 more source

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

Evaluation of microsatellite instability patterns in mismatch repair deficiency: a retrospective analysis of 285 endometrial cancers

Frontiers in Immunology
ObjectiveIn this study, we systematically compared the microsatellite shift patterns detected by PCR-based microsatellite instability analysis (PCR-MSI) in mismatch repair (MMR)-deficient ECs and analyzed the clinicopathological features associated with ...
Cheng Wang, Cheng Wang, Min Feng, Min Feng, Yuling Kou, Yuling Kou, Wei Kuang, Wei Kuang, Wei Wang, Wei Wang, Dongni Liang, Dongni Liang   +11 more
doaj   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source