Sep 2026· European Journal of Human Genetics· 0 citations· 34 references
Medicine
TL;DR
It is demonstrated that mainstreamed germline and somatic BRCA1/2 testing is feasible in Ireland and reports the prevalence of BRCA CAVs in a cohort of patients with OC, which is consistent with UK real-world data.
BACKGROUND
The clinical characteristics of BRCA1 and BRCA2 (BRCA) deleterious alterations in advanced prostate cancer-considering age, family history, co-occurring gene alterations, and variant type-remain incompletely understood in patients undergoing tumor-only panel testing.
MATERIALS AND METHODS
We analyzed 2,815...
H. Tsumura, Dai Koguchi, K. Tabata et al.· The Prostate· 0 citations
Beyond the attractive potential to surrogate the tumor tissue testing, to overcome the cancer spatial and temporal heterogeneity, and to monitor the tumor mutational profile over time, accurately detecting all clinically relevant BRCA genetic variants and epigenetic modifications using LB remains technically challengin...
L. Incorvaia, V. Gristina, F. Pepe et al.· ESMO Open· 0 citations
A prevalence of 19.3% is revealed for germline BRCA1/2 mutations in the tested population, with BRCA1 p.(Ser1379Ter) emerging as a recurrent variant, warranting further investigation as a possible founder mutation.
Samah N. Saharti· Journal of King Saud Univers...· 0 citations
BACKGROUND
Uncommon and complex EGFR variants respond variably to tyrosine kinase inhibitors, and data on their frequency in Brazil are scarce.
METHODS
We retrospectively analysed 141 patients with EGFR-mutated lung adenocarcinoma at a single Northeastern Brazilian centre. All profiling used treatment-naive diagnosti...
J. C. de Sousa, Cleto Nogueira, Guilherme de Sousa Veloso et al.· Cancer Treatment and Researc...· 0 citations
The findings support implementing testing for use of a safe, inexpensive repurposed drug and underscore the importance of upfront testing for timely treatment decision-making and implementation of trial findings into routine practice.
L. Kerrin, Osamah Al Haddad, Ellen Reid et al.· Frontiers in Oncology· 0 citations
INTRODUCTION
Multilocus inherited neoplasia alleles syndrome (MINAS) can pair a germline pathogenic BRCA1/2 variant with a pathogenic mismatch-repair (MMR) variant, but current guidelines manage the two inherited pathways separately.
AREAS COVERED
We searched PubMed, Embase, the American Society of Clinical Oncology...
Rui Chen, Chuang Ge, F. Yuan et al.· Expert Review of Molecular D...· 0 citations
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