Associated Papers
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A et al.
Journal of Medical Genetics, 2023
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
35768433 (PubMed )
Supplement: 41523_2022_443_MOESM9_ESM.xlsx › DuplexSeq_all
The transcriptional landscape of Shh medulloblastoma.
Skowron P et al.
Nature Communications, 2021
33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations
Landscape of Genomic Alterations in IDH Wild-Type Glioblastoma Identifies PI3K as a Favorable Prognostic Factor.
Yan Y et al.
Jco Precision Oncology, 2020
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › Combined_All
Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
Yeung KS et al.
American Journal of Medical Genetics. Part A, 2017
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G et al.
Jci Insight, 2016
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