Results 151 to 160 of about 3,482,680 (357)

An exploration of delegation practices regarding the utilization of genetic counseling assistants for disclosure of genetic testing results

Genetic counselors (GCs) play a crucial role in the healthcare system, providing education, support and guidance regarding genetic risk assessment, testing and results interpretation. To help GCs practice at the highest level of their expertise, the role
Stone, Kristyne, Allison, Camille O., Wetherill, Leah, Delk, Paula R., Ranson, David   +4 more
core   +1 more source

Fundamentos clínicos del consejo genético en cáncer hereditario

Psicooncologia, 2005
We describe the Genetic Counseling as the translation of the hereditary cancer knowledge to the clinical practice. Genetic counseling is a process for information, which takes place at the Genetic Counseling Units, where individual cancer risk and ...
Ana López, Enrique Lastra, Beatriz Nieto, María García, Cristina Bayona, Eva Fonseca, Blanca Hernando, Rosario Hernández, Carlos García-girón   +8 more
doaj  

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

Parent experiences with genetic testing for pediatric hearing loss

The purpose of the current study was to assess parent perceptions and experiences of genetic testing, as well as barriers for not undergoing testing in a sample of families of children with hearing loss.
Yunis, Valerie, Blanton, Susan, Sarangoulis, Christina M., Cejas, Ivette, Liu, Xue Zhong, Coto, Jennifer   +5 more
core   +1 more source

Genetic counseling in the Middle East: provider perspectives of patient attitudes and cultural challenges

Human Genomics
Genomic advancements have led to increased utilization of genetic testing in clinical care, yet barriers to accessing genetic counseling and genomics services remain, particularly in the Middle East where inherited diseases are highly prevalent due to ...
Shruti Shenbagam, Alan Taylor, Ruchi Jain, Khalid Fakhro, Fowzan Alkuraya, Ahmad Abou Tayoun   +5 more
doaj   +1 more source

Liquid biopsy‐based diagnostic evaluation of hypermethylated CpG sites for ovarian cancer diagnosis

Molecular Oncology, EarlyView.
This schematic outlines the workflow from biomarker identification to duplex MethyLight assay validation for epithelial ovarian cancer diagnosis using cfDNA‐based liquid biopsy. Initial screening of hypermethylated CpG candidates (cg02957270, cg10061138 cg00480298, COL2A1) was performed in tissue using ARMS‐PCR, COBRA, qPCR and image analysis. Selected
Deepa Bisht, Sameer Gupta, Amrita Chaurasia, Manisha Sachan   +3 more
wiley   +1 more source

Patient therapy outcome modeling in cancer organoids is improved by cancer‐associated fibroblasts and organoid assembly convolution

Molecular Oncology, EarlyView.
Patient‐derived organoids (PDOs) from pancreatic, colorectal, and gastric cancers were used to evaluate standard and experimental therapies. Incorporating cancer‐associated fibroblasts (CAFs) into organoid cultures improved patient therapy outcome prediction.
Marcin Grochowski, Liudmyla Dolinchuk, Michał Jerzak, Albert Gandurski, Tomasz Grochowski, Weronika Wojtyś, Maciej Zadrożny, Wojciech Kaźmierczak, Małgorzata Lenarcik, Marta Matejak‐Górska, Radosław Samsel, Tomasz Olesiński, Dawid Walerych   +12 more
wiley   +1 more source

Loss of proton‐sensing TDAG8 increases tumor progression in mouse models of colon cancer

Molecular Oncology, EarlyView.
Loss of the pH‐sensing receptor TDAG8 accelerates colorectal cancer progression in mice. Animals lacking TDAG8 expression had increased tumor growth, DNA damage, and recruitment of tumor‐associated immune cells, including macrophages, neutrophils, and monocytes.
Ermanno Malagola, Yasmine Illi, Anna Bircher, Marijn Wilmink, Rachele F. Malagutti, Solenn Ottié, Cordelia Schuler, Pedro A. Ruiz, Cheryl de Vallière, Klaus Seuwen, Gerhard Rogler, Martin Hausmann   +11 more
wiley   +1 more source

A rare case of aniridia and balanced translocation (5;11) (p15.3; q22) arising in the same subject: A challenge for genetic counseling

, 2015
A rare case of aniridia and balanced translocation (5:11)(p15.3;q22) arising in the same subject: et challenge for genetic counseling: The authors report on a case of isolated aniridia caused by haploinsufficiency of the PAX6 gene, which is located on ...
Maciel-Guerra, AT, Vulcan-Freitas, TM
core  

Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is one of the most common autosomal codominant Mendelian diseases. The major complications of FH include tendon and cutaneous xanthomas and coronary artery disease (CAD) associated with a substantial elevation of serum ...
Tomoko Sekiya, Atsushi Watanabe, Masayuki Takamura, Hayato Tada, Masa-aki Kawashiri, Atsushi Nohara   +5 more
core   +1 more source