[HTML][HTML] The translational challenges of precision oncology
The translational challenges in the field of precision oncology are in part related to the
biological complexity and diversity of this disease. Technological advances in genomics …
biological complexity and diversity of this disease. Technological advances in genomics …
Carbonic anhydrase IX: A tumor acidification switch in heterogeneity and chemokine regulation
The primary physiological process of respiration produces carbon dioxide (CO 2) that reacts
with water molecules which subsequently liberates bicarbonate (HCO–3) and protons …
with water molecules which subsequently liberates bicarbonate (HCO–3) and protons …
Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors
The immune checkpoint inhibitor (ICI) pembrolizumab is US FDA approved for treatment of
solid tumors with high tumor mutational burden (TMB-high;≥ 10 variants/Mb). However, the …
solid tumors with high tumor mutational burden (TMB-high;≥ 10 variants/Mb). However, the …
TP53-dependent toxicity of CRISPR/Cas9 cuts is differential across genomic loci and can confound genetic screening
CRISPR/Cas9 gene editing can inactivate genes in a precise manner. This process involves
DNA double-strand breaks (DSB), which may incur a loss of cell fitness. We hypothesize that …
DNA double-strand breaks (DSB), which may incur a loss of cell fitness. We hypothesize that …
[HTML][HTML] Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations
Abstract Background The ESMO Precision Medicine Working Group was reconvened to
update its 2018/19 recommendations on follow-up of putative germline variants detected on …
update its 2018/19 recommendations on follow-up of putative germline variants detected on …
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models
A Herencia-Ropero, A Llop-Guevara… - Genome medicine, 2024 - Springer
Background Poly (ADP-ribose) polymerase 1 and 2 (PARP1/2) inhibitors (PARPi) are
targeted therapies approved for homologous recombination repair (HRR)-deficient breast …
targeted therapies approved for homologous recombination repair (HRR)-deficient breast …
The impact of rare germline variants on human somatic mutation processes
Somatic mutations are an inevitable component of ageing and the most important cause of
cancer. The rates and types of somatic mutation vary across individuals, but relatively few …
cancer. The rates and types of somatic mutation vary across individuals, but relatively few …
Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies
YR Murciano-Goroff, AM Schram, EY Rosen… - Nature …, 2022 - nature.com
The association between loss of BRCA1/2 and a homologous recombination deficiency
phenotype is lineage dependent. In BRCA-associated cancers such as breast, ovarian …
phenotype is lineage dependent. In BRCA-associated cancers such as breast, ovarian …
[HTML][HTML] Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical …
Purpose Although the role of CHEK2 germline pathogenic variants in cancer predisposition
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …
[HTML][HTML] Detecting mismatch repair deficiency in solid neoplasms: immunohistochemistry, microsatellite instability, or both?
In managing patients with solid tumors, the value of detecting the status of tumor DNA
mismatch repair function is widely recognized. Mismatch repair protein …
mismatch repair function is widely recognized. Mismatch repair protein …