Results 31 to 40 of about 3,303,931 (259)

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

, 2021
Background: The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of ...
Borghi C, Biasucci G, EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)   +2 more
core   +1 more source

Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer

Cancer Medicine, 2023
To assess the role of germline pathogenic variants (PVs) in SMARCA4 and further established ovarian cancer (OC) predisposition genes in early onset OC, we investigated a clinical cohort of 206 unrelated OC index patients with an age at diagnosis of OC ...
Natalie Herold, Johanna Schmolling, Corinna Ernst, Beyhan Ataseven, Britta Blümcke, Birgid Schömig‐Markiefka, Sebastian Heikaus, Uwe‐Jochen Göhring, Christoph Engel, Björn Lampe, Kerstin Rhiem, Philipp Harter, Jan Hauke, Rita K. Schmutzler, Eric Hahnen   +14 more
doaj   +1 more source

Clinicopathological Characteristics of HER2-Positive Breast Cancer Patients with BRCA1/2 Pathogenic Variants and Their Response to Neoadjuvant Targeted Therapy

Zhongliu Fangzhi Yanjiu
ObjectiveTo analyze the proportion and clinicopathological characteristics of HER2-positive breast cancer patients with BRCA1/2 pathogenic variants, and their response to neoadjuvant anti-HER2 targeted therapy.
Xingyu LIAO, Huimin LIU, Jie SUN, Li HU, Juan ZHANG, Lu YAO, Ye XU, Yuntao XIE   +7 more
doaj   +1 more source

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

Nature Communications, 2020
Around half of the heritability underpinning familial high-grade serous ovarian carcinoma remains unidentified. Here, the authors show that extremely rare protein encoding loss-of-function variants, with a high degree of genetic heterogeneity, may ...
Deepak N. Subramanian, Magnus Zethoven, Simone McInerny, James A. Morgan, Simone M. Rowley, Jue Er Amanda Lee, Na Li, Kylie L. Gorringe, Paul A. James, Ian G. Campbell   +9 more
doaj   +1 more source

Risk of ipsilateral breast tumor recurrence and contralateral breast cancer in patients with and without TP53 variant in a large series of breast cancer patients

Breast, 2022
Background: The association between breast cancer patients with a TP53 pathogenic variant and risk of local recurrence and contralateral breast cancer remains largely unknown.
Yonghai Guo, Qiting Wan, Tao Ouyang, Jinfeng Li, Tianfeng Wang, Zhaoqing Fan, Yuntao Xie   +6 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

The Initiation and Progression of Neoplasia in Inherited and Sporadic Colorectal Cancer. [PDF]

, 2009
PhDThis dissertation describes investigations into aspects of neoplastic initiation and progression in the gut, in the context of inherited and sporadic gastrointestinal cancer. In familial adenomatous polyposis, there is marked locoregional variation
Will, Olivia Constance Claire
core   +4 more sources

Breast cancer specialists’ experiences and attitudes towards mainstream genetic testing for patients with breast cancer

Hereditary Cancer in Clinical Practice
Background Germline genetic testing is an increasingly important component of treatment decision-making for clinicians and patients with breast cancer. To address increased demand and expedite access to genetic testing for these patients, the Parkville ...
Kirsten Allan, Linda Cicciarelli, Catherine Beard, Geoffrey J. Lindeman, G. Bruce Mann, Paul A. James, Laura E. Forrest   +6 more
doaj   +1 more source

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

Orphanet Journal of Rare Diseases, 2022
Background The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes ...
Laura Pena-Couso, María Ercibengoa, Fátima Mercadillo, David Gómez-Sánchez, Lucía Inglada-Pérez, María Santos, Javier Lanillos, David Gutiérrez-Abad, Almudena Hernández, Pablo Carbonell, Rocío Letón, Mercedes Robledo, Cristina Rodríguez-Antona, José Perea, Miguel Urioste, PHTS Working Group   +15 more
doaj   +1 more source