Mutational signatures: emerging concepts, caveats and clinical applications

G Koh, A Degasperi, X Zou, S Momen… - Nature Reviews …, 2021 - nature.com
Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …

Molecular classification of breast cancer

JYS Tsang, MT Gary - Advances in anatomic pathology, 2020 - journals.lww.com
Cancer classification aims to provide an accurate diagnosis of the disease and prediction of
tumor behavior to facilitate oncologic decision making. Traditional breast cancer …

Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study

J Staaf, D Glodzik, A Bosch, J Vallon-Christersson… - Nature medicine, 2019 - nature.com
Whole-genome sequencing (WGS) brings comprehensive insights to cancer genome
interpretation. To explore the clinical value of WGS, we sequenced 254 triple-negative …

Homologous recombination DNA repair deficiency and PARP inhibition activity in primary triple negative breast cancer

N Chopra, H Tovey, A Pearson, R Cutts, C Toms… - Nature …, 2020 - nature.com
Triple negative breast cancer (TNBC) encompasses molecularly different subgroups, with a
subgroup harboring evidence of defective homologous recombination (HR) DNA repair …

Tumor mutational burden is a determinant of immune-mediated survival in breast cancer

A Thomas, ED Routh, A Pullikuth, G Jin, J Su… - …, 2018 - Taylor & Francis
Mounting evidence supports a role for the immune system in breast cancer outcomes. The
ability to distinguish highly immunogenic tumors susceptible to anti-tumor immunity from …

The genomic landscape of metastatic castration-resistant prostate cancers reveals multiple distinct genotypes with potential clinical impact

LF van Dessel, J van Riet, M Smits, Y Zhu… - Nature …, 2019 - nature.com
Metastatic castration-resistant prostate cancer (mCRPC) has a highly complex genomic
landscape. With the recent development of novel treatments, accurate stratification …

Hereditary breast cancer: syndromes, tumour pathology and molecular testing

A Sokolova, KJ Johnstone, AE McCart Reed… - …, 2023 - Wiley Online Library
Hereditary factors account for a significant proportion of breast cancer risk. Approximately
20% of hereditary breast cancers are attributable to pathogenic variants in the highly …

Emerging systemic therapy options beyond CDK4/6 inhibitors for hormone receptor-positive HER2-negative advanced breast cancer

J Ma, JJ Chan, CH Toh, YS Yap - NPJ Breast Cancer, 2023 - nature.com
Endocrine therapy (ET) with cyclin-dependent kinase 4/6 inhibitor (CDK4/6i) is currently the
standard first-line treatment for most patients with hormone receptor (HR) positive, human …

PTEN Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?

N Fusco, E Sajjadi, K Venetis, G Gaudioso, G Lopez… - Genes, 2020 - mdpi.com
Alterations in the tumor suppressor phosphatase and tensin homolog (PTEN) occur in a
substantial proportion of solid tumors. These events drive tumorigenesis and tumor …

A practical guide for mutational signature analysis in hematological malignancies

F Maura, A Degasperi, F Nadeu… - Nature …, 2019 - nature.com
Abstract Analysis of mutational signatures is becoming routine in cancer genomics, with
implications for pathogenesis, classification, prognosis, and even treatment decisions …