A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription [PDF]
Anna Minello +19 more
openalex +1 more source
Genomics and Discrimination in New Zealand Health and Life Insurance
The use of genomics offers substantial benefits to society by revolutionising approaches to healthcare and personalised medicine. It enables early detection of genetic predispositions to various diseases, allowing for proactive and tailored treatment plans, access to clinical trials, and improved health outcomes.
Andrew N. Shelling +3 more
wiley +1 more source
The Mechanistic Understanding of RAD51 Defibrillation: A Critical Step in BRCA2-Mediated DNA Repair by Homologous Recombination [PDF]
Fabrizio Schipani +13 more
openalex +1 more source
Extraneural Metastasis in Oligodendroglioma: A Comprehensive Review and Outcome Analysis of 90 Cases
Oligodendroglioma liver metastasis. ABSTRACT Extraneural metastasis in oligodendroglioma is a rare and poorly characterized event. We report a case whereby liver and bone metastasis occurred 19 years after diagnosis. Next generation sequencing on brain and liver oligodendroglioma showed several common mutations and a few unique ones to each organ.
Ahmad Daher +4 more
wiley +1 more source
Malignant ovarian germ cell tumor subtypes exhibit distinct tumor microenvironments. Dysgerminomas harbor abundant nonexhausted T cells, with progenitor exhausted T cells present in 60% of PD‐1–positive cases. However, MHC class I expression is lost across all analyzed subtypes, suggesting that restoring class I expression in dysgerminomas may enhance ...
Miya Nakashima +13 more
wiley +1 more source
Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: Comparison of two high-resolution melting platforms [PDF]
Claes, Kathleen +4 more
core +1 more source
RESPONSE: Re: Pretest Prediction of BRCA1 or BRCA2 Mutation by Risk Counselors and the Computer Model BRCAPRO [PDF]
David Euhus
openalex +1 more source
A case of metastatic treatment‐emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation diagnosed by liver biopsy [PDF]
Taku Naiki +9 more
openalex +1 more source

