Publications:

Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer

Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A

Publication Date: 2020-04-07

Variant appearance in text: PTEN: 563A>G; Tyr188Cys

PubMed Link: 32264863

Variant Present in the following documents:

• 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7

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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Haematologica

Pastor, Victor B VB; Sahoo, Sushree S SS; Boklan, Jessica J; Schwabe, Georg C GC; Saribeyoglu, Ebru E; Strahm, Brigitte B; Lebrecht, Dirk D; Voss, Matthias M; Bryceson, Yenan T YT; Erlacher, Miriam M; Ehninger, Gerhard G; Niewisch, Marena M; Schlegelberger, Brigitte B; Baumann, Irith I; Achermann, John C JC; Shimamura, Akiko A; Hochrein, Jochen J; Tedgård, Ulf U; Nilsson, Lars L; Hasle, Henrik H; Boerries, Melanie M; Busch, Hauke H; Niemeyer, Charlotte M CM; Wlodarski, Marcin W MW

Publication Date: 2018-03

Variant appearance in text: PTEN: 563A>G; Y188C

PubMed Link: 29217778

Variant Present in the following documents:

• Main text
• 2017.180778.PASTOR_SUPPL.pdf
• 1030427.pdf

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