相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Skin cancer risk in CHEK2 mutation carriers
A. N. Bui et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2021)
Variation in Cutaneous Patterns of Melanomagenesis According to Germline CDKN2A/CDK4 Status in Melanoma-Prone Families
Michael R. Sargen et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2020)
DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility
Alice Fievet et al.
HUMAN MUTATION (2020)
Melanoma predisposition-A limited role for germline BRCA1 and BRCA2 variants
David J. Adams et al.
PIGMENT CELL & MELANOMA RESEARCH (2020)
Genetic variation in POT1 and risk of thyroid subsequent malignant neoplasm: A report from the Childhood Cancer Survivor Study
Melissa A. Richard et al.
PLOS ONE (2020)
A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres
Huiling He et al.
THYROID (2020)
Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer
Klara Lhotova et al.
CANCERS (2020)
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1
Lorenza Pastorino et al.
CANCERS (2020)
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer
Aayushi Srivastava et al.
CANCERS (2020)
Genome-wide association studies and polygenic risk scores for skin cancer: clinically useful yet?
M. R. Roberts et al.
BRITISH JOURNAL OF DERMATOLOGY (2019)
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
Petra Kleiblova et al.
INTERNATIONAL JOURNAL OF CANCER (2019)
Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
Logan C. Walker et al.
FRONTIERS IN GENETICS (2019)
Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods
J. Ferlay et al.
INTERNATIONAL JOURNAL OF CANCER (2019)
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
Jana Soukupova et al.
PLOS ONE (2018)
Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries
Freddie Bray et al.
CA-A CANCER JOURNAL FOR CLINICIANS (2018)
The wide spectrum of POT1 gene variants correlates with multiple cancer types
Oriol Calvete et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA
Jennifer Gass et al.
FAMILIAL CANCER (2017)
A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers
Tremika Le-Shan Wilson et al.
FAMILIAL CANCER (2017)
Rare germline variants in known melanoma susceptibility genes in familial melanoma
Alisa M. Goldstein et al.
HUMAN MOLECULAR GENETICS (2017)
NEIL3 Repairs Telomere Damage during S Phase to Secure Chromosome Segregation at Mitosis
Jia Zhou et al.
CELL REPORTS (2017)
Identification, genetic testing, and management of hereditary melanoma
Sancy A. Leachman et al.
CANCER AND METASTASIS REVIEWS (2017)
Germline TERT promoter mutations are rare in familial melanoma
Mark Harland et al.
FAMILIAL CANCER (2016)
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma
M. Betti et al.
CANCER LETTERS (2016)
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients
F. Lhota et al.
CLINICAL GENETICS (2016)
Familial Risk and Heritability of Cancer Among Twins in Nordic Countries
Lorelei A. Mucci et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2016)
Hereditary melanoma: Update on syndromes and management Genetics of familial atypical multiple mole melanoma syndrome
Efthymia Soura et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2016)
Hereditary melanoma: Update on syndromes and management Emerging melanoma cancer complexes and genetic counseling
Efthymia Soura et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2016)
TPP1 Blocks an ATR-Mediated Resection Mechanism at Telomeres
Tatsuya Kibe et al.
MOLECULAR CELL (2016)
Genetic predisposition to melanoma
Jason E. Hawkes et al.
SEMINARS IN ONCOLOGY (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
Matthew H. Law et al.
NATURE GENETICS (2015)
Genetics of familial melanoma: 20 years after CDKN2A
Lauren G. Aoude et al.
PIGMENT CELL & MELANOMA RESEARCH (2015)
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families
Oriol Calvete et al.
NATURE COMMUNICATIONS (2015)
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma
Lauren G. Aoude et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2015)
ARF tumor suppression in the nucleouls
Leonard B. Maggi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2014)
The Genetics of Melanoma: Recent Advances
Victoria K. Hill et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 14 (2013)
Comprehensive Field Synopsis and Systematic Meta-analyses of Genetic Association Studies in Cutaneous Melanoma
Foteini Chatzinasiou et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2011)
Phenopedia and Genopedia: disease-centered and gene-centered views of the evolving knowledge of human genetic associations
W. Yu et al.
BIOINFORMATICS (2010)
Ultraviolet radiation and skin cancer
Deevya L. Narayanan et al.
INTERNATIONAL JOURNAL OF DERMATOLOGY (2010)
POT1 Association with TRF2 Regulates Telomere Length
Megan F. Kendellen et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Molecular genetic analysis of NBS1 in German melanoma patients
Peter Meyer et al.
MELANOMA RESEARCH (2007)
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
Alisa M. Goldstein et al.
JOURNAL OF MEDICAL GENETICS (2007)
Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland
J Steffen et al.
INTERNATIONAL JOURNAL OF CANCER (2004)
Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection
M Lei et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2004)
Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin
T Debniak et al.
MELANOMA RESEARCH (2003)
POT1 as a terminal transducer of TRF1 telomere length control
D Loayza et al.
NATURE (2003)