Insertion of Alu elements at a PTEN hotspot in Cowden syndrome

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

(2015) Lamis Yehia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing

(2014) E. Helman et al.   GENOME RESEARCH

Cowden syndrome: Recognizing and managing a not-so-rare hereditary cancer syndrome

(2014) Jessica Mester et al.   JOURNAL OF SURGICAL ONCOLOGY

Comprehensive analysis of PTEN status in breast carcinomas

(2013) Natalie Jones et al.   INTERNATIONAL JOURNAL OF CANCER

High cumulative risks of cancer in patients withPTENhamartoma tumour syndrome

(2013) Virginie Bubien et al.   JOURNAL OF MEDICAL GENETICS

Finding the lost treasures in exome sequencing data

(2013) David C. Samuels et al.   TRENDS IN GENETICS

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

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

Succinate Dehydrogenase Gene Variants and Their Role in Cowden Syndrome

(2011) Jean-Pierre Bayley   AMERICAN JOURNAL OF HUMAN GENETICS

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

(2011) R. Pilarski et al.   JOURNAL OF MEDICAL GENETICS

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

(2011) Katharina Wimmer et al.   PLoS Genetics

A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands

(2010) Min-Han Tan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

(2010) Ana Peixoto et al.   BREAST CANCER RESEARCH AND TREATMENT

Allele-specific tumor spectrum in Pten knockin mice

(2010) H. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes

(2008) Ying Ni et al.   AMERICAN JOURNAL OF HUMAN GENETICS