A new POT1 germline mutation—expanding the spectrum of POT1-associated cancers

Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia

(2016) H. E. Speedy et al.   BLOOD

Genetic predisposition to endocrine tumors: Diagnosis, surveillance and challenges in care

(2016) Elisabeth Joye Petr et al.   SEMINARS IN ONCOLOGY

Unified representation of genetic variants

(2015) Adrian Tan et al.   BIOINFORMATICS

CHEK2mutations and the risk of papillary thyroid cancer

(2015) Monika Siołek et al.   INTERNATIONAL JOURNAL OF CANCER

Melanoma genetics

(2015) Jazlyn Read et al.   JOURNAL OF MEDICAL GENETICS

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

(2015) Oriol Calvete et al.   Nature Communications

MC1Rvariants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: A pooled-analysis from the M-SKIP project

(2014) Elena Pasquali et al.   INTERNATIONAL JOURNAL OF CANCER

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma

(2014) Matthew N. Bainbridge et al.   JNCI-Journal of the National Cancer Institute

Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma

(2014) Lauren G. Aoude et al.   JNCI-Journal of the National Cancer Institute

POT1 loss-of-function variants predispose to familial melanoma

(2014) Carla Daniela Robles-Espinoza et al.   NATURE GENETICS

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

(2014) Jianxin Shi et al.   NATURE GENETICS

A Large French Case-Control Study Emphasizes the Role of RareMc1RVariants in Melanoma Risk

(2014) Hui-Han Hu et al.   Biomed Research International

Highly prevalent TERT promoter mutations in aggressive thyroid cancers

(2013) Xiaoli Liu et al.   ENDOCRINE-RELATED CANCER

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

(2013) Andrew J Ramsay et al.   NATURE GENETICS

TERT Promoter Mutations in Familial and Sporadic Melanoma

(2013) S. Horn et al.   SCIENCE

Highly Recurrent TERT Promoter Mutations in Human Melanoma

(2013) F. W. Huang et al.   SCIENCE

DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors

(2011) Thomas Rio Frio   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

(2011) Satoru Yokoyama et al.   NATURE

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

(2011) Corine Bertolotto et al.   NATURE

Germline mutations in BAP1 predispose to melanocytic tumors

(2011) Thomas Wiesner et al.   NATURE GENETICS

Germline BAP1 mutations predispose to malignant mesothelioma

(2011) Joseph R Testa et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS