Results 31 to 40 of about 1,289,326 (214)

Differential diagnosis of small bowel occlusions

Clinical Management Issues, 2009
Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, and microsatellite instability (MSI).
Paolo Ghiringhelli
doaj   +1 more source

PD-1 blockage combined with vaccine therapy can facilitate immune infiltration in tumor microenvironment of Lynch syndrome colon cancer

Frontiers in Genetics, 2022
Background: Lynch syndrome is a genetic disease resulting from mismatch repair gene mutation. Vaccine therapy can enhance the immunogenicity of Lynch syndrome and improve the therapeutic efficacy of immunotherapy.
Kai Ye, Wenjin Zhong, Pengcheng Wang, Yanxin Chen, Pan Chi   +4 more
doaj   +1 more source

Association of a novel point mutation in MSH2 gene with familial multiple primary cancers

Journal of Hematology & Oncology, 2017
Background Multiple primary cancers (MPC) have been identified as two or more cancers without any subordinate relationship that occur either simultaneously or metachronously in the same or different organs of an individual. Lynch syndrome is an autosomal
Hai Hu, Hong Li, Feng Jiao, Ting Han, Meng Zhuo, Jiujie Cui, Yixue Li, Liwei Wang   +7 more
doaj   +1 more source

Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population

Cancer Biology & Medicine, 2022
Objective: Hereditary colorectal cancer (CRC) accounts for approximately 5%–10% of all CRC cases. The full profile of CRC-related germline mutations and the corresponding somatic mutational profile have not been fully determined in the Chinese population.
Jianfei Yao, Yunhuan Zhen, Jing Fan, Yuan Gong, Yumeng Ye, Shaohua Guo, Hongyi Liu, Xiaoyun Li, Guosheng Li, Pan Yang, Xiaohui Wang, Danni Liu, Tanxiao Huang, Huiya Cao, Peisu Suo, Yuemin Li, Jingbo Yu, Lele Song   +17 more
doaj   +1 more source

Modifiable risk factors for cancer among people with lynch syndrome: an international, cross-sectional survey

Hereditary Cancer in Clinical Practice
Background Lynch syndrome is the most common cause of hereditary colorectal and endometrial cancer. Lifestyle modification may provide an opportunity for adjunctive cancer prevention.
Robert F. Power, Damien E. Doherty, Roberta Horgan, Pat Fahey, David J. Gallagher, Maeve A. Lowery, Karen A. Cadoo   +6 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Genetic Counseling and Surveillance Focused on Lynch Syndrome

Journal of the Anus, Rectum and Colon, 2019
Lynch syndrome is a hereditary cancer syndrome caused by germline mutations in one of several DNA mismatch repair genes. Lynch syndrome leads to an increased lifetime risk of various cancers, particularly colorectal, and endometrial cancers.
Jin Yong Kim, Jeong-Sik Byeon
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Living at genetic risk: The patient experience of Lynch syndrome

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome is a germline cancer predisposition syndrome caused by a variant in one of four genes. Lynch syndrome places individuals at significantly higher risk for a range of cancers, especially colorectal and endometrial. Depending on which gene is affected, the risk of ovarian, gastric, small bowel, pancreatic, biliary urothelial, brain,
Nicola Reents, Georgina Hoffmann, Kelly Kohut   +2 more
wiley   +1 more source