Publications:

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: KMT2C: R2609Q

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

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The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Frontiers In Oncology

Andrikopoulou, Angeliki A; Chatzinikolaou, Spyridoula S; Kyriopoulos, Ilias I; Bletsa, Garyfalia G; Kaparelou, Maria M; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F

Publication Date: 2021

Variant appearance in text: KMT2C: 7826G>A; Arg2609Gln; rs746659124

PubMed Link: 35127508

Variant Present in the following documents:

• Main text
• fonc-11-797505.pdf

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TP53 mutations determined by targeted NGS in breast cancer: a case-control study.

Oncotarget

Andrikopoulou, Angeliki A; Terpos, Evangelos E; Chatzinikolaou, Spyridoula S; Apostolidou, Kleoniki K; Ntanasis-Stathopoulos, Ioannis I; Gavriatopoulou, Maria M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F

Publication Date: 2021-10-12

Variant appearance in text: KMT2C: Arg2609Gln

PubMed Link: 34676052

Variant Present in the following documents:

• Main text
• oncotarget-12-2206.pdf

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Subclonal diversification of primary breast cancer revealed by multiregion sequencing.

Nature Medicine

Yates, Lucy R LR; Gerstung, Moritz M; Knappskog, Stian S; Desmedt, Christine C; Gundem, Gunes G; Van Loo, Peter P; Aas, Turid T; Alexandrov, Ludmil B LB; Larsimont, Denis D; Davies, Helen H; Li, Yilong Y; Ju, Young Seok YS; Ramakrishna, Manasa M; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Nik-Zainal, Serena S; McLaren, Stuart S; Butler, Adam A; Martin, Sancha S; Glodzik, Dominic D; Menzies, Andrew A; Raine, Keiran K; Hinton, Jonathan J; Jones, David D; Mudie, Laura J LJ; Jiang, Bing B; Vincent, Delphine D; Greene-Colozzi, April A; Adnet, Pierre-Yves PY; Fatima, Aquila A; Maetens, Marion M; Ignatiadis, Michail M; Stratton, Michael R MR; Sotiriou, Christos C; Richardson, Andrea L AL; Lønning, Per Eystein PE; Wedge, David C DC; Campbell, Peter J PJ

Publication Date: 2015-07

Variant appearance in text: MLL3: R2609Q

PubMed Link: 26099045

Variant Present in the following documents:

• NIHMS63566-supplement-3.xls, sheet 2
• NIHMS63566-supplement-8.xlsx, sheet 2
• NIHMS63566-supplement-7.xlsx, sheet 15
• NIHMS63566-supplement-8.xlsx, sheet 3
• NIHMS63566-supplement-3.xls, sheet 1
• NIHMS63566-supplement-8.xlsx, sheet 4
• NIHMS63566-supplement-8.xlsx, sheet 20

View BVdb publication page