Drastic Response to Olaparib in a Patient With Metastatic Castration-Resistant Prostate Cancer Harboring BRCA2 Alterations and Near-Threshold Tumor Mutational Burden. [PDF]
IJU Case RepABSTRACT Introduction BRCA2 alterations and high tumor mutational burden (TMB‐H) are responsible for prostate cancer; however, their co‐occurrence is uncommon, and evidence for PARP inhibition in the castration‐sensitive setting remains limited. We describe a case of metastatic castration‐resistant prostate cancer (CRPC) harboring both biomarkers ...
Yokota K +6 more
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Oestrogen‐mediated phosphorylation and stabilization of BRCA2 protein in breast [PDF]
The Journal of Pathology, 2008 AbstractDisease‐associated BRCA2 mutations typically result in protein truncations that delete the phosphorylation‐regulated S3291 BRCA2 domain that interacts with Rad51. BRCA2 hereditary breast cancers are usually ER+, differing from BRCA1 hereditary cancers, which are usually ER−.
J L, Malone +4 more
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Post-transcriptional regulation of BRCA2 through interactions with miR-19a and miR-19b
Frontiers in Genetics, 2016 Breast cancer type 2, early onset susceptibility gene (BRCA2) is a major component of the homologous recombination DNA repair pathway. It acts as a tumor suppressor whose function is often lost in cancers.
Elena Mogilyansky +6 more
doaj +1 more source
Low levels of BRCA1 protein expression predict a worse prognosis in stage I–II colon cancer
The International Journal of Biological Markers, 2021 Background: BRCA1 and BRCA2 have been well studied for their roles in tumorigeneis, plus cancer diagnosis and treatment, but their prognostic value in colon cancer, especially for early-stage cancer, has not been fully illuminated.
Changzheng Du +4 more
doaj +1 more source
Proper chromosome alignment depends on BRCA2 phosphorylation by PLK1
Nature Communications, 2020 The BRCA2 tumour suppressor protein is known to play an important role in homologous recombination. Here the authors reveal how the phosphorylation of BRCA2 by Polo-like kinase 1 (PLK1) contributes to the regulation of mitosis.
Åsa Ehlén +12 more
doaj +1 more source
Detecting BRCA2 Protein Truncation in Tissue Biopsies to Identify Breast Cancers That Arise in BRCA2 Gene Mutation Carriers [PDF]
Journal of Clinical Oncology, 2009 Purpose Mutations in the BRCA2 gene are dominantly inherited but cause cancers when the wild-type allele has loss of heterozygosity (LOH) within the cancer. Because most disease-associated BRCA2 mutations are protein-truncating mutations, a test for truncated BRCA2 proteins should identify most BRCA2 hereditary cancers.
Patrice, Watson +5 more
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No evidence of
BMC Research Notes, 2009 Background Germline mutations in the BRCA2 gene have been suggested to account for about 5% of familial prostate cancer; mutations have been reported in 2% of early onset (i.e., ≤ 55 years) prostate cancer cases and a segregating founder mutation has ...
Allen-Brady Kristina +5 more
doaj +1 more source
BRCA2 Protein Deficiency Exaggerates Doxorubicin-induced Cardiomyocyte Apoptosis and Cardiac Failure [PDF]
Journal of Biological Chemistry, 2012 The tumor suppressor breast cancer susceptibility gene 2 (BRCA2) plays an important role in the repair of DNA damage, and loss of BRCA2 predisposes carriers to breast and ovarian cancers. Doxorubicin (DOX) remains the cornerstone of chemotherapy in such individuals.
Singh KK +16 more
openaire +2 more sources
Assessment of PALB2 as a candidate melanoma susceptibility gene.
PLoS ONE, 2014 Partner and localizer of BRCA2 (PALB2) interacts with BRCA2 to enable double strand break repair through homologous recombination. Similar to BRCA2, germline mutations in PALB2 have been shown to predispose to Fanconi anaemia as well as pancreatic and ...
Lauren G Aoude +11 more
doaj +1 more source
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Genome Medicine, 2022 Background Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain.
Leila Dorling +108 more
doaj +1 more source