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Recent advances in Lynch syndrome.
Biller LH, Syngal S, Yurgelun MB. Biller LH, et al. Fam Cancer. 2019 Apr;18(2):211-219. doi: 10.1007/s10689-018-00117-1. Fam Cancer. 2019. PMID: 30627969 Free PMC article. Review.
While the mechanism of mismatch repair deficiency and microsatellite instability and its role in Lynch-associated carcinogenesis has been known for some time, there have been significant advances recently in diagnostic testing and the understanding of the mol …
While the mechanism of mismatch repair deficiency and microsatellite instability and its role in Lynch-associated carcinogenesis has been kn …
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S. Yurgelun MB, et al. J Clin Oncol. 2017 Apr 1;35(10):1086-1095. doi: 10.1200/JCO.2016.71.0012. Epub 2017 Jan 30. J Clin Oncol. 2017. PMID: 28135145 Free PMC article.
Purpose Hereditary factors play an important role in colorectal cancer (CRC) risk, yet the prevalence of germline cancer susceptibility gene mutations in patients with CRC unselected for high-risk features (eg, early age at diagnosis, personal/famil
Purpose Hereditary factors play an important role in colorectal cancer (CRC) risk, yet the prevalence of germline cancer susce …
Recent Advances in Lynch Syndrome: Diagnosis, Treatment, and Cancer Prevention.
Yurgelun MB, Hampel H. Yurgelun MB, et al. Am Soc Clin Oncol Educ Book. 2018 May 23;38:101-109. doi: 10.1200/EDBK_208341. Am Soc Clin Oncol Educ Book. 2018. PMID: 30231390 Free article. Review.
Identification of individuals with inherited predispositions to cancer, including Lynch syndrome, can help prevent cancer and cancer-related death by allowing for the uptake of specific cancer prevention and screening as well as the use of thera …
Identification of individuals with inherited predispositions to cancer, including Lynch syndrome, can help prevent cancer and …
Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.
Boland PM, Yurgelun MB, Boland CR. Boland PM, et al. CA Cancer J Clin. 2018 May;68(3):217-231. doi: 10.3322/caac.21448. Epub 2018 Feb 27. CA Cancer J Clin. 2018. PMID: 29485237 Free PMC article. Review.
The current understanding of familial colorectal cancer was limited to descriptions of affected pedigrees until the early 1990s. ...This review largely focuses on advances in our understanding of Lynch syndrome because of the unique relationship of thi …
The current understanding of familial colorectal cancer was limited to descriptions of affected pedigrees until the …
Population genetic screening efficiently identifies carriers of autosomal dominant diseases.
Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, Rowan C, Slotnick N, Dabe S, Metcalf WJ, Lipp B, Reed H, Sharma L, Levin E, Kao J, Rashkin M, Bowes J, Dunaway K, Slonim A, Washington N, Ferber M, Bolze A, Lu JT. Grzymski JJ, et al. Nat Med. 2020 Aug;26(8):1235-1239. doi: 10.1038/s41591-020-0982-5. Epub 2020 Jul 27. Nat Med. 2020. PMID: 32719484
In typical medical practice, genetic testing for these conditions is based on personal or family history, ethnic background or other demographic characteristics(2). In this study of a cohort of 26,906 participants in the Healthy Nevada Project (HNP), we first …
In typical medical practice, genetic testing for these conditions is based on personal or family history, ethnic backgr …
Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management.
Kanth P, Grimmett J, Champine M, Burt R, Samadder NJ. Kanth P, et al. Am J Gastroenterol. 2017 Oct;112(10):1509-1525. doi: 10.1038/ajg.2017.212. Epub 2017 Aug 8. Am J Gastroenterol. 2017. PMID: 28786406 Review.
Identification of these patients through family history and appropriate genetic testing can provide estimates of cancer risk that inform appropriate cancer screening, surveillance and/or preventative interventions. This narrative r …
Identification of these patients through family history and appropriate genetic testing can provide estimates of can
Population-based genetic testing for Women's cancer prevention.
Evans O, Gaba F, Manchanda R. Evans O, et al. Best Pract Res Clin Obstet Gynaecol. 2020 May;65:139-153. doi: 10.1016/j.bpobgyn.2020.02.007. Epub 2020 Mar 2. Best Pract Res Clin Obstet Gynaecol. 2020. PMID: 32245629 Review.
This model is ineffective, resource intense, misses >50% CSG carriers, is associated with underutilisation of genetic-testing services and delays detection of mutation carriers. ...This reflects significant missed opportunities for precision-prevention. …
This model is ineffective, resource intense, misses >50% CSG carriers, is associated with underutilisation of genetic-testing
Genetic and genomic basis of the mismatch repair system involved in Lynch syndrome.
Tamura K, Kaneda M, Futagawa M, Takeshita M, Kim S, Nakama M, Kawashita N, Tatsumi-Miyajima J. Tamura K, et al. Int J Clin Oncol. 2019 Sep;24(9):999-1011. doi: 10.1007/s10147-019-01494-y. Epub 2019 Jul 4. Int J Clin Oncol. 2019. PMID: 31273487 Review.
Children with germline biallelic mismatch repair gene abnormalities were reported to develop conditions such as gastrointestinal polyposis, colorectal cancer, brain cancer, leukemia, etc., and so on, demonstrating the need to respond with new concepts in g
Children with germline biallelic mismatch repair gene abnormalities were reported to develop conditions such as gastrointestinal polyposis, …
Current clinical topics of Lynch syndrome.
Tanakaya K. Tanakaya K. Int J Clin Oncol. 2019 Sep;24(9):1013-1019. doi: 10.1007/s10147-018-1282-7. Epub 2018 May 9. Int J Clin Oncol. 2019. PMID: 29744602 Review.
Lynch syndrome (LS) is one of the most common genetic cancer syndromes, occurring at a rate of 1 per 250-1000 in the general population. ...This review discusses current clinical topics related to LS screening, diagnosis, surveillance, an …
Lynch syndrome (LS) is one of the most common genetic cancer syndromes, occurring at a rate of 1 per 250-1000 in the general …
Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation.
Snowsill T, Coelho H, Huxley N, Jones-Hughes T, Briscoe S, Frayling IM, Hyde C. Snowsill T, et al. Health Technol Assess. 2017 Sep;21(51):1-238. doi: 10.3310/hta21510. Health Technol Assess. 2017. PMID: 28895526 Free PMC article. Review.
Key determinants of whether or not screening is cost-effective are the accuracy of tumour-based tests, CRC risk without surveillance, the number of relatives identified for cascade testing, colonoscopic surveillance effectiveness and the accepta …
Key determinants of whether or not screening is cost-effective are the accuracy of tumour-based tests, CRC risk without surveillan
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