Next-generation sequencing in oncology: genetic diagnosis, risk prediction and cancer classification

R Kamps, RD Brandão, BJ van den Bosch… - International journal of …, 2017 - mdpi.com
Next-generation sequencing (NGS) technology has expanded in the last decades with
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …

A survey of tools for variant analysis of next-generation genome sequencing data

S Pabinger, A Dander, M Fischer… - Briefings in …, 2014 - academic.oup.com
Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …

Familial risk and heritability of cancer among twins in Nordic countries

LA Mucci, JB Hjelmborg, JR Harris, K Czene… - Jama, 2016 - jamanetwork.com
Importance Estimates of familial cancer risk from population-based studies are essential
components of cancer risk prediction. Objective To estimate familial risk and heritability of …

Modeling linkage disequilibrium increases accuracy of polygenic risk scores

BJ Vilhjálmsson, J Yang, HK Finucane, A Gusev… - The american journal of …, 2015 - cell.com
Polygenic risk scores have shown great promise in predicting complex disease risk and will
become more accurate as training sample sizes increase. The standard approach for …

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

K Michailidou, J Beesley, S Lindstrom, S Canisius… - Nature …, 2015 - nature.com
Genome-wide association studies (GWAS) and large-scale replication studies have
identified common variants in 79 loci associated with breast cancer, explaining∼ 14% of the …

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

RL Milne, KB Kuchenbaecker, K Michailidou… - Nature …, 2017 - nature.com
Most common breast cancer susceptibility variants have been identified through genome-
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …

The landscape of cancer genes and mutational processes in breast cancer

PJ Stephens, PS Tarpey, H Davies, P Van Loo… - Nature, 2012 - nature.com
All cancers carry somatic mutations in their genomes. A subset, known as driver mutations,
confer clonal selective advantage on cancer cells and are causally implicated in …

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

K Michailidou, P Hall, A Gonzalez-Neira… - Nature …, 2013 - nature.com
Breast cancer is the most common cancer among women. Common variants at 27 loci have
been identified as associated with susceptibility to breast cancer, and these account for∼ …

Functional and molecular characterisation of EO771. LMB tumours, a new C57BL/6-mouse-derived model of spontaneously metastatic mammary cancer

CN Johnstone, YE Smith, Y Cao… - Disease models & …, 2015 - journals.biologists.com
The translation of basic research into improved therapies for breast cancer patients requires
relevant preclinical models that incorporate spontaneous metastasis. We have completed a …

Identifying breast cancer susceptibility genes–a review of the genetic background in familial breast cancer

C Wendt, S Margolin - Acta Oncologica, 2019 - Taylor & Francis
Introduction: Heritage is the most important risk factor for breast cancer. About 15–20% of
breast cancer is familial, referring to affected women who have one or more first-or second …