Perspectives on triple-negative breast cancer: current treatment strategies, unmet needs, and potential targets for future therapies

GK Gupta, AL Collier, D Lee, RA Hoefer, V Zheleva… - Cancers, 2020 - mdpi.com
Triple-negative breast cancer (TNBC), characterized by the absence or low expression of
estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor …

Homologous recombination deficiency: cancer predispositions and treatment implications

MR Toh, J Ngeow - The oncologist, 2021 - academic.oup.com
Homologous recombination (HR) is a highly accurate DNA repair mechanism. Several HR
genes are established cancer susceptibility genes with clinically actionable pathogenic …

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 …

Genetic predisposition to breast and ovarian cancers: how many and which genes to test?

D Angeli, S Salvi, G Tedaldi - International journal of molecular sciences, 2020 - mdpi.com
Breast and ovarian cancers are some of the most common tumors in females, and the
genetic predisposition is emerging as one of the key risk factors in the development of these …

Homologous recombination deficiency in ovarian, breast, colorectal, pancreatic, non-small cell lung and prostate cancers, and the mechanisms of resistance to PARP …

N Mekonnen, H Yang, YK Shin - Frontiers in oncology, 2022 - frontiersin.org
Homologous recombination (HR) is a highly conserved DNA repair mechanism that protects
cells from exogenous and endogenous DNA damage. Breast cancer 1 (BRCA1) and breast …

Biomarkers in breast cancer: an old story with a new end

L Neves Rebello Alves, D Dummer Meira… - Genes, 2023 - mdpi.com
Breast cancer is the second most frequent cancer in the world. It is a heterogeneous disease
and the leading cause of cancer mortality in women. Advances in molecular technologies …

Shaping the BRCAness mutational landscape by alternative double-strand break repair, replication stress and mitotic aberrancies

C Stok, YP Kok, N van den Tempel… - Nucleic acids …, 2021 - academic.oup.com
Tumours with mutations in the BRCA1/BRCA2 genes have impaired double-stranded DNA
break repair, compromised replication fork protection and increased sensitivity to replication …

[HTML][HTML] Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

M Tischkowitz, J Balmaña, WD Foulkes, P James… - Genetics in …, 2021 - Elsevier
Purpose PALB2 germline pathogenic variants are associated with increased breast cancer
risk and smaller increased risk of pancreatic and likely ovarian cancer. Resources for health …

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

RACM Boonen, A Rodrigue, C Stoepker… - Nature …, 2019 - nature.com
Heterozygous carriers of germ-line loss-of-function variants in the DNA repair gene PALB2
are at a highly increased lifetime risk for developing breast cancer. While truncating variants …

Validation of genomic and transcriptomic models of homologous recombination deficiency in a real-world pan-cancer cohort

BD Leibowitz, BV Dougherty, JSK Bell, J Kapilivsky… - BMC cancer, 2022 - Springer
Background With the introduction of DNA-damaging therapies into standard of care cancer
treatment, there is a growing need for predictive diagnostics assessing homologous …