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Page 1
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D'Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JE, Scott HS. Lewinsohn M, et al. Among authors: poplawski n. Blood. 2016 Feb 25;127(8):1017-23. doi: 10.1182/blood-2015-10-676098. Epub 2015 Dec 28. Blood. 2016. PMID: 26712909 Free PMC article.
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G. Li J, et al. Among authors: poplawski n. Am J Hum Genet. 2016 May 5;98(5):830-842. doi: 10.1016/j.ajhg.2016.03.001. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087319 Free PMC article.
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.
Cheah JJC, Brown AL, Schreiber AW, Feng J, Babic M, Moore S, Young CC, Fine M, Phillips K, Guandalini M, Wilson P, Poplawski N, Hahn CN, Scott HS. Cheah JJC, et al. Among authors: poplawski n. Haematologica. 2019 Jul;104(7):e318-e321. doi: 10.3324/haematol.2018.207316. Epub 2019 Mar 28. Haematologica. 2019. PMID: 30923096 Free PMC article. No abstract available.
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL, Arts P, Carmichael CL, Babic M, Dobbins J, Chong CE, Schreiber AW, Feng J, Phillips K, Wang PPS, Ha T, Homan CC, King-Smith SL, Rawlings L, Vakulin C, Dubowsky A, Burdett J, Moore S, McKavanagh G, Henry D, Wells A, Mercorella B, Nicola M, Suttle J, Wilkins E, Li XC, Michaud J, Brautigan P, Cannon P, Altree M, Jaensch L, Fine M, Butcher C, D'Andrea RJ, Lewis ID, Hiwase DK, Papaemmanuil E, Horwitz MS, Natsoulis G, Rienhoff HY, Patton N, Mapp S, Susman R, Morgan S, Cooney J, Currie M, Popat U, Bochtler T, Izraeli S, Bradstock K, Godley LA, Krämer A, Fröhling S, Wei AH, Forsyth C, Mar Fan H, Poplawski NK, Hahn CN, Scott HS. Brown AL, et al. Among authors: poplawski nk. Blood Adv. 2020 Mar 24;4(6):1131-1144. doi: 10.1182/bloodadvances.2019000901. Blood Adv. 2020. PMID: 32208489 Free PMC article.
A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.
Fox LC, Tan M, Brown AL, Arts P, Thompson E, Ryland GL, Lickiss J, Scott HS, Poplawski NK, Phillips K, Came NA, James P, Ting SB, Ritchie DS, Szer J, Hahn CN, Schwarer A, Blombery P. Fox LC, et al. Among authors: poplawski nk. Br J Haematol. 2020 Sep;190(5):e297-e301. doi: 10.1111/bjh.16819. Epub 2020 Jun 3. Br J Haematol. 2020. PMID: 32488879 Free article. No abstract available.
Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
Singhal D, Hahn CN, Feurstein S, Wee LYA, Moma L, Kutyna MM, Chhetri R, Eshraghi L, Schreiber AW, Feng J, Wang PP, Babic M, Parker WT, Gao S, Moore S, Das S, Thomas D, Pattnaik S, Brown AL, D'Andrea RJ, Poplawski NK, Thomas D, Scott HS, Godley LA, Hiwase DK. Singhal D, et al. Among authors: poplawski nk. Leukemia. 2021 Nov;35(11):3245-3256. doi: 10.1038/s41375-021-01246-w. Epub 2021 Apr 13. Leukemia. 2021. PMID: 33850299
RNF43 pathogenic Germline variant in a family with colorectal cancer.
Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ. Mikaeel RR, et al. Clin Genet. 2022 Jan;101(1):122-126. doi: 10.1111/cge.14064. Epub 2021 Sep 27. Clin Genet. 2022. PMID: 34541672
75 results