Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma
In this study, we present the case of a young patient diagnosed with upper urinary tract urothelial carcinoma, notable for a familial history of diverse malignancies. By employing genetic analysis, we verified the presence of Lynch syndrome within the family and detected novel variants, MSH2 p.A604D and TSC2 p.C738Y, utilizing NGS technology. Subsequently, we conducted validation experiments to assess the pathogenicity of the MSH2 and TSC2 variants. We illustrated that the MSH2 variant can result in diminished MSH2 expression, compromised mismatch repair function, and induce resistance to cisplatin in urothelial carcinoma....
Source: Translational Research : the journal of laboratory and clinical medicine - November 1, 2023 Category: Laboratory Medicine Authors: Mingyang Li Xingjian Yan He Liu Wenhao Miao Wenbo Wu Yuyang Zhao Chungang Wang Haitao Liu Source Type: research
Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma
In this study, we present the case of a young patient diagnosed with upper urinary tract urothelial carcinoma, notable for a familial history of diverse malignancies. By employing genetic analysis, we verified the presence of Lynch syndrome within the family and detected novel variants, MSH2 p.A604D and TSC2 p.C738Y, utilizing NGS technology. Subsequently, we conducted validation experiments to assess the pathogenicity of the MSH2 and TSC2 variants. We illustrated that the MSH2 variant can result in diminished MSH2 expression, compromised mismatch repair function, and induce resistance to cisplatin in urothelial carcinoma....
Source: Translational Research : the journal of laboratory and clinical medicine - November 1, 2023 Category: Laboratory Medicine Authors: Mingyang Li Xingjian Yan He Liu Wenhao Miao Wenbo Wu Yuyang Zhao Chungang Wang Haitao Liu Source Type: research
Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma
In this study, we present the case of a young patient diagnosed with upper urinary tract urothelial carcinoma, notable for a familial history of diverse malignancies. By employing genetic analysis, we verified the presence of Lynch syndrome within the family and detected novel variants, MSH2 p.A604D and TSC2 p.C738Y, utilizing NGS technology. Subsequently, we conducted validation experiments to assess the pathogenicity of the MSH2 and TSC2 variants. We illustrated that the MSH2 variant can result in diminished MSH2 expression, compromised mismatch repair function, and induce resistance to cisplatin in urothelial carcinoma....
Source: Translational Research : the journal of laboratory and clinical medicine - November 1, 2023 Category: Laboratory Medicine Authors: Mingyang Li Xingjian Yan He Liu Wenhao Miao Wenbo Wu Yuyang Zhao Chungang Wang Haitao Liu Source Type: research
Screening and testing practices for Lynch syndrome in Nova Scotians with endometrial cancer: a descriptive study
CMAJ Open. 2023 Oct 31;11(5):E1012-E1019. doi: 10.9778/cmajo.20220136. Print 2023 Sep-Oct.ABSTRACTBACKGROUND: Identifying people with Lynch syndrome, a genetic condition predisposing those affected to colorectal, endometrial and other cancers, allows for implementation of risk-reducing strategies for patients and their families. The goal of this study was to describe screening and testing practices for this condition among people with endometrial cancer in Nova Scotia, Canada, and to determine the prevalence of Lynch syndrome in this population.METHODS: All patients diagnosed with endometrial cancer in Nova Scotia between ...
Source: cmaj - October 31, 2023 Category: General Medicine Authors: Marianne Levesque Richard Wood Michael D Carter Jo-Ann Brock Katharina Kieser Source Type: research
Screening and testing practices for Lynch syndrome in Nova Scotians with endometrial cancer: a descriptive study
CMAJ Open. 2023 Oct 31;11(5):E1012-E1019. doi: 10.9778/cmajo.20220136. Print 2023 Sep-Oct.ABSTRACTBACKGROUND: Identifying people with Lynch syndrome, a genetic condition predisposing those affected to colorectal, endometrial and other cancers, allows for implementation of risk-reducing strategies for patients and their families. The goal of this study was to describe screening and testing practices for this condition among people with endometrial cancer in Nova Scotia, Canada, and to determine the prevalence of Lynch syndrome in this population.METHODS: All patients diagnosed with endometrial cancer in Nova Scotia between ...
Source: cmaj - October 31, 2023 Category: General Medicine Authors: Marianne Levesque Richard Wood Michael D Carter Jo-Ann Brock Katharina Kieser Source Type: research
Screening and testing practices for Lynch syndrome in Nova Scotians with endometrial cancer: a descriptive study
CMAJ Open. 2023 Oct 31;11(5):E1012-E1019. doi: 10.9778/cmajo.20220136. Print 2023 Sep-Oct.ABSTRACTBACKGROUND: Identifying people with Lynch syndrome, a genetic condition predisposing those affected to colorectal, endometrial and other cancers, allows for implementation of risk-reducing strategies for patients and their families. The goal of this study was to describe screening and testing practices for this condition among people with endometrial cancer in Nova Scotia, Canada, and to determine the prevalence of Lynch syndrome in this population.METHODS: All patients diagnosed with endometrial cancer in Nova Scotia between ...
Source: cmaj - October 31, 2023 Category: General Medicine Authors: Marianne Levesque Richard Wood Michael D Carter Jo-Ann Brock Katharina Kieser Source Type: research
Screening and testing practices for Lynch syndrome in Nova Scotians with endometrial cancer: a descriptive study
CMAJ Open. 2023 Oct 31;11(5):E1012-E1019. doi: 10.9778/cmajo.20220136. Print 2023 Sep-Oct.ABSTRACTBACKGROUND: Identifying people with Lynch syndrome, a genetic condition predisposing those affected to colorectal, endometrial and other cancers, allows for implementation of risk-reducing strategies for patients and their families. The goal of this study was to describe screening and testing practices for this condition among people with endometrial cancer in Nova Scotia, Canada, and to determine the prevalence of Lynch syndrome in this population.METHODS: All patients diagnosed with endometrial cancer in Nova Scotia between ...
Source: cmaj - October 31, 2023 Category: General Medicine Authors: Marianne Levesque Richard Wood Michael D Carter Jo-Ann Brock Katharina Kieser Source Type: research
Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma
In this study, we present the case of a young patient diagnosed with upper urinary tract urothelial carcinoma, notable for a familial history of diverse malignancies. By employing genetic analysis, we verified the presence of Lynch syndrome within the family and detected novel variants, MSH2 p.A604D and TSC2 p.C738Y, utilizing NGS technology. (Source: Translational Research)
Source: Translational Research - October 30, 2023 Category: Research Authors: Mingyang Li, Xingjian Yan, He Liu, Wenhao Miao, Wenbo Wu, Yuyang Zhao, Chungang Wang, Haitao Liu Source Type: research
A locally advanced colon cancer patient with Muir-Torre syndrome obtains durable response to neoadjuvant and adjuvant immunotherapy
CONCLUSIONS: The results demonstrate promising performance in neoadjuvant and adjuvant settings. Further studies are needed to confirm its potential usefulness as an outcome measure in clinical practice.PMID:37880978 | DOI:10.1177/03008916231204735 (Source: Tumori)
Source: Tumori - October 26, 2023 Category: Cancer & Oncology Authors: Zhihua Guo Yue Cai Weiqiang Yin Jun Huang Source Type: research
Province-Wide Ascertainment of Lynch Syndrome in Manitoba
CONCLUSIONS: A tumour screening program is more effective at detecting individuals with lower penetrant gene variants and families who do not meet traditional family history-based criteria. Cascade genetic testing is higher among clinic referrals compared to the screening program. These findings suggest a complementary role of these two ascertainment methods for Lynch syndrome.PMID:37879520 | DOI:10.1016/j.cgh.2023.10.005 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - October 25, 2023 Category: Cancer & Oncology Authors: Heidi Rothenmund Lambert Pascal Deirdre Khan Christina Kim Bhavya Sharma Kim Serfas Bernard Chodirker Harminder Singh Source Type: research
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome
Conclusion
The PRS may slightly influence CRC risk in individuals with LS in particular in more extreme phenotypes such as early-onset disease. However, the study design and recruitment strategy strongly influence the results of PRS studies. A separate analysis by genes and its combination with other genetic and non-genetic risk factors will help refine its role as a risk modifier in LS. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 24, 2023 Category: Genetics & Stem Cells Authors: Duenas, N., Klinkhammer, H., Bonifaci, N., Spier, I., Mayr, A., Hassanin, E., Diez-Villanueva, A., Moreno, V., Pineda, M., Maj, C., Capella, G., Aretz, S., Brunet, J. Tags: Cancer genetics Source Type: research
Province-Wide Ascertainment of Lynch Syndrome in Manitoba
We describe the experience of Lynch Syndrome (LS) diagnosis in the province of Manitoba, Canada over the last twenty years. (Source: Clinical Gastroenterology and Hepatology)
Source: Clinical Gastroenterology and Hepatology - October 23, 2023 Category: Gastroenterology Authors: Heidi Rothenmund, Lambert Pascal, Deirdre Khan, Christina Kim, Bhavya Sharma, Kim Serfas, Bernard Chodirker, Harminder Singh Source Type: research
