Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer

Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors

(2016) Elina Uusitalo et al.   BRITISH JOURNAL OF CANCER

Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1

(2016) Elina Uusitalo et al.   JOURNAL OF CLINICAL ONCOLOGY

Counselling framework for moderate-penetrance cancer-susceptibility mutations

(2016) Nadine Tung et al.   Nature Reviews Clinical Oncology

COSMIC: somatic cancer genetics at high-resolution

(2016) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Age-specific risk of breast cancer in women with neurofibromatosis type 1

(2015) O O Seminog et al.   BRITISH JOURNAL OF CANCER

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation inBRCA1

(2015) Ye Won Jeon et al.   Journal of Breast Cancer

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer

(2013) Berta Campos et al.   BREAST CANCER RESEARCH AND TREATMENT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

(2013) Audrey Sabbagh et al.   HUMAN MUTATION

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

(2013) J. Gao et al.   Science Signaling

Breast cancer and other neoplasms in women with neurofibromatosis type 1: A retrospective review of cases in the Detroit metropolitan area

(2012) X. Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Increased risk of breast cancer in women with NF1

(2012) Sara Aileen Madanikia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo 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

Functional Analysis of Epidermal Growth Factor Receptor (EGFR) Mutations and Potential Implications for EGFR Targeted Therapy

(2009) R. K. Kancha et al.   CLINICAL CANCER RESEARCH

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

(2008) Jeffrey C Barrett et al.   NATURE GENETICS

The emerging landscape of breast cancer susceptibility

(2007) Michael R Stratton et al.   NATURE GENETICS