Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
- A. Umar, C. Boland, S. Srivastava
- MedicineJournal of the National Cancer Institute
- 18 February 2004
This commentary summarizes the Workshop presentations on HNPCC and MSI testing; presents the issues relating to the performance, specificity, and specificity of the Bethesda Guidelines; outlines the revised Bethesda Guidelines for identifying individuals at risk for H NPCC; and recommend criteria for MSI testing.
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency.
This study showed that mismatch-repair status predicted clinical benefit of immune checkpoint blockade with pembrolizumab, and high somatic mutation loads were associated with prolonged progression-free survival.
The role of microRNA genes in papillary thyroid carcinoma.
- Huiling He, K. Jażdżewski, A. de la Chapelle
- Biology, MedicineProceedings of the National Academy of Sciences…
- 27 December 2005
It is concluded that up-regulation of several miRs and regulation of KIT are involved in PTC pathogenesis, and that sequence changes in genes targeted by miRNAs can contribute to their regulation.
Cancer risk in mutation carriers of DNA‐mismatch‐repair genes
- M. Aarnio, R. Sankila, H. Järvinen
- Medicine, BiologyInternational Journal of Cancer
- 12 April 1999
The tumour spectrum associated with germline mutations of DNA‐mismatch‐repair genes involves 8 or more organ sites, suggesting a need to develop methods to screen for extra‐colonic cancer also.
Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma
- K. Jażdżewski, Elizabeth L. Murray, K. Franssila, B. Jarzab, Daniel R Schoenberg, A. de la Chapelle
- BiologyProceedings of the National Academy of Sciences
- 20 May 2008
The data suggest that a common polymorphism in pre-miR-146a affects the miR expression, contributes to the genetic predisposition to PTC, and plays a role in the tumorigenesis through somatic mutation.
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
- H. Hampel, W. Frankel, A. de la Chapelle
- MedicineNew England Journal of Medicine
- 5 May 2005
Routine molecular screening of patients with colorectal adenocarcinoma for the Lynch syndrome identified mutations in patients and their family members that otherwise would not have been detected.
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease.
- L. Aaltonen, R. Salovaara, A. de la Chapelle
- Medicine, BiologyNew England Journal of Medicine
- 21 May 1998
Tumor specimens obtained from 509 consecutive patients with colorectal adenocarcinomas were screened for DNA replication errors and germ-line mutations of the mismatch-repair genes MLH1 and MSH2, finding at least 2 percent had hereditary nonpolyposis coloreCTal cancer.
Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
- H. Hampel, W. Frankel, A. de la Chapelle
- MedicineJournal of Clinical Oncology
- 10 December 2008
One of every 35 patients with CRC has LS, and each has at least three relatives with LS; all of whom can benefit from increased cancer surveillance, but IHC is more readily available and helps to direct gene testing.
Hereditary Colorectal Cancer
- H. Lynch, A. de la Chapelle
- MedicineSpringer Japan
- 1990
From the Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebr. (H.T.L.); and the Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio…
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
- H. Hampel, W. Frankel, A. de la Chapelle
- MedicineCancer Research
- 1 August 2006
It is concluded that in central Ohio, at least 1.8% (95% confidence interval, 0.9-3.5%) of newly diagnosed endometrial cancer patients had Lynch syndrome, and a combination of MSI and immunohistochemical staining followed by gene sequencing and deletion analysis is feasible and may be desirable.
...
...