Mutational analysis of MED12 in fibroadenomas and phyllodes tumors of the breast by means of targeted next-generation sequencing

C Mishima, N Kagara, T Tanei, Y Naoi… - Breast cancer research …, 2015 - Springer
We aimed to analyze MED12 mutation in fibroadenomas (FAs) and phyllodes tumors (PTs)
of the breast, which are closely related and consist of epithelial and stromal components.
Targeted deep-sequencing using next-generation sequencing was performed in FAs (n= 58)
and PTs (n= 27). The frequency of MED12 mutant tumors was significantly higher (P= 0.016)
in PTs (74.1%) than in FAs.(46.6%). As for FAs, this frequency was significantly higher (P=
0.001) for intracanalicular type (69.0%) than for other histological subtypes such as …

[PDF][PDF] Mutational analysis of MED12 in fibroadenomas and phyllodes tumors of the breast by means of targeted next-generation sequencing

三嶋千恵子 - 2017 - ir.library.osaka-u.ac.jp
本研究は, 次世代シークエンサー (NGS) を用いて乳腺線維腺腫 (FA, 58 例) と葉状腫瘍 (PT, 27
例) における松 ſ2ſ 変異について検討したものである. FA の 47%, 及び, PT の 74% に始
D72異が検出され, exon 2 の codon 44 のミスセンス変異が大部分を占めた. 変異の頻度は FA
より PT で有意に高率であり (P= 0.016), 組織型別の検討では intracana1icu1ar FA は PT
と同等の変異頻度 (69%) を示した. さらに DNA の変異アレルの頻度は FA, PT
いずれにおいても上皮より間質において高く, かつ, 変異 mRNA は, 間質のみで発現していることが …
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