Publications:

ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: TSC2: 2109G>A; W703*; rs45462192

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

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Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg

Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR

Publication Date: 2015-12

Variant appearance in text: TSC2: 2109G>A; Trp703*

PubMed Link: 25782670

Variant Present in the following documents:

• ejhg201547x1.xls, sheet 1

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Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

American Journal Of Human Genetics

Niida, Y Y; Stemmer-Rachamimov, A O AO; Logrip, M M; Tapon, D D; Perez, R R; Kwiatkowski, D J DJ; Sims, K K; MacCollin, M M; Louis, D N DN; Ramesh, V V

Publication Date: 2001-09

Variant appearance in text: TSC2: W703X

PubMed Link: 11468687

Variant Present in the following documents:

• Main text

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