The status of the human gene catalogue

P Amaral, S Carbonell-Sala, FM De La Vega, T Faial… - Nature, 2023 - nature.com
Scientists have been trying to identify every gene in the human genome since the initial draft
was published in 2001. In the years since, much progress has been made in identifying …

Molecular tumour boards—current and future considerations for precision oncology

AM Tsimberidou, M Kahle, HH Vo, MA Baysal… - Nature Reviews …, 2023 - nature.com
Over the past 15 years, rapid progress has been made in developmental therapeutics,
especially regarding the use of matched targeted therapies against specific oncogenic …

The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology

D Tamborero, R Dienstmann, MH Rachid, J Boekel… - Nature cancer, 2022 - nature.com
There is a growing need for systems that efficiently support the work of medical teams at the
precision-oncology point of care. Here, we present the implementation of the Molecular …

C-CAT: the national datacenter for cancer genomic medicine in Japan

T Kohno, M Kato, S Kohsaka, T Sudo, I Tamai… - Cancer discovery, 2022 - AACR
Since June 2019, under the umbrella of the national health insurance system, Japan has
started cancer genomic medicine (CGM) with comprehensive genomic profiling (CGP) tests …

Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers

G Federici, S Soddu - Journal of Experimental & Clinical Cancer Research, 2020 - Springer
The promising expectations about personalized medicine have opened the path to routine
large-scale sequencing and increased the importance of genetic counseling for hereditary …

Clinical BRCA1/2 Reversion Analysis Identifies Hotspot Mutations and Predicted Neoantigens Associated with Therapy Resistance

SJ Pettitt, JR Frankum, M Punta, S Lise, J Alexander… - Cancer discovery, 2020 - AACR
Reversion mutations in BRCA1 or BRCA2 are associated with resistance to PARP inhibitors
and platinum. To better understand the nature of these mutations, we collated, codified, and …

Genome interpretation using in silico predictors of variant impact

P Katsonis, K Wilhelm, A Williams, O Lichtarge - Human genetics, 2022 - Springer
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants

S Sahu, TL Sullivan, AY Mitrophanov, M Galloux… - Plos …, 2023 - journals.plos.org
The unknown pathogenicity of a significant number of variants found in cancer-related
genes is attributed to limited epidemiological data, resulting in their classification as variant …

Support systems to guide clinical decision-making in precision oncology: The Cancer Core Europe Molecular Tumor Board Portal

D Tamborero, R Dienstmann, MH Rachid, J Boekel… - Nature Medicine, 2020 - nature.com
To the Editor—The optimal management of patients with cancer is increasingly dependent
on individualized treatments guided by tumor sequencing data. As comprehensive genomic …

How do mutations affecting the breast cancer genes BRCA1 and BRCA2 cause cancer susceptibility?

AR Venkitaraman - DNA repair, 2019 - Elsevier
The inheritance of monoallelic germline mutations affecting BRCA1 or BRCA2 predisposes
with a high penetrance to several forms of epithelial malignancy. The large, nuclear …