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Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.
Yang C, Jairam S, Amoroso KA, Robson ME, Walsh MF, Zhang L. Yang C, et al. Among authors: zhang l. Breast Cancer Res Treat. 2018 Apr;168(2):543-550. doi: 10.1007/s10549-017-4595-8. Epub 2017 Nov 28. Breast Cancer Res Treat. 2018. PMID: 29185120 Free PMC article.
Germline SDHA mutations in children and adults with cancer.
Dubard Gault M, Mandelker D, DeLair D, Stewart CR, Kemel Y, Sheehan MR, Siegel B, Kennedy J, Marcell V, Arnold A, Al-Ahmadie H, Modak S, Robson M, Shukla N, Roberts S, Vijai J, Topka S, Kentsis A, Cadoo K, Carlo M, Latham Schwark A, Reznik E, Dinatale R, Hechtman J, Borras Flores E, Jairam S, Yang C, Li Y, Bayraktar EC, Ceyhan-Birsoy O, Zhang L, Kohlman W, Schiffman J, Stadler Z, Birsoy K, Kung A, Offit K, Walsh MF. Dubard Gault M, et al. Among authors: zhang l. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002584. doi: 10.1101/mcs.a002584. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 30068732 Free PMC article.
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer.
Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, Middha S, Hechtman J, Zehir A, Dubard-Gault M, Tran C, Stewart C, Sheehan M, Penson A, DeLair D, Yaeger R, Vijai J, Mukherjee S, Galle J, Dickson MA, Janjigian Y, O'Reilly EM, Segal N, Saltz LB, Reidy-Lagunes D, Varghese AM, Bajorin D, Carlo MI, Cadoo K, Walsh MF, Weiser M, Aguilar JG, Klimstra DS, Diaz LA Jr, Baselga J, Zhang L, Ladanyi M, Hyman DM, Solit DB, Robson ME, Taylor BS, Offit K, Berger MF, Stadler ZK. Latham A, et al. Among authors: zhang l. J Clin Oncol. 2019 Feb 1;37(4):286-295. doi: 10.1200/JCO.18.00283. Epub 2018 Oct 30. J Clin Oncol. 2019. PMID: 30376427 Free PMC article.
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V, Shameer Z, Kemel Y, Walsh M, Cadoo K, Lipkin S, Mandelker D, Zhang L, Stadler Z, Robson M, Offit K, Vijai J. Ravichandran V, et al. Among authors: zhang l. Genet Med. 2019 Sep;21(9):2116-2125. doi: 10.1038/s41436-019-0463-8. Epub 2019 Feb 21. Genet Med. 2019. PMID: 30787465 Free PMC article.
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Zhang L, Walsh MF, Jairam S, Mandelker D, Zhong Y, Kemel Y, Chen YB, Musheyev D, Zehir A, Jayakumaran G, Brzostowski E, Birsoy O, Yang C, Li Y, Somar J, DeLair D, Pradhan N, Berger MF, Cadoo K, Carlo MI, Robson ME, Stadler ZK, Iacobuzio-Donahue CA, Joseph V, Offit K. Zhang L, et al. Hum Mutat. 2020 Jan;41(1):103-109. doi: 10.1002/humu.23900. Epub 2019 Sep 3. Hum Mutat. 2020. PMID: 31444830 Free PMC article.
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