A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

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

(2020) Elisabeth M. P. Steeghs et al.   BMC CANCER

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Hereditary diffuse gastric cancer: updated clinical practice guidelines

(2020) Vanessa R Blair et al.   LANCET ONCOLOGY

Hereditary gastric cancer: what’s new? Update 2013–2018

(2019) Rachel S. van der Post et al.   Familial Cancer

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders

(2018) Ralitsa R. Madsen et al.   TRENDS IN MOLECULAR MEDICINE

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

(2017) Ingrid P Vogelaar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

(2017) Paul Kuentz et al.   GENETICS IN MEDICINE

Heterozygous expression of the oncogenic Pik3caH1047R mutation during murine development results in fatal embryonic and extraembryonic defects

(2015) Lauren M. Hare et al.   DEVELOPMENTAL BIOLOGY

Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

(2015) Ingrid P. Vogelaar et al.   Familial Cancer

Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal

(2013) J. Gao et al.   Science Signaling

Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes

(2012) Mohammed S. Orloff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer

(2012) Ian J Majewski et al.   JOURNAL OF PATHOLOGY

The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data: Figure 1.

(2012) Ethan Cerami et al.   Cancer Discovery

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome

(2011) D L Worthley et al.   GUT

Germline CDH1 deletions in hereditary diffuse gastric cancer families

(2009) C. Oliveira et al.   HUMAN MOLECULAR GENETICS