Constitutional BRCA1 Methylation and Risk of Incident Triple-Negative Breast Cancer and High-grade Serous Ovarian Cancer
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2022.3846
Abstract: Key Points Question Is mosaic BRCA1 promoter methylation in normal tissue associated with the risk of incident high-grade serous ovarian cancer (HGSOC) and triple-negative breast cancer (TNBC)? Findings In this nested case-control study including 637… read more here.
Keywords: brca1; methylation; high grade; risk incident ... See more keywords
BRCA1 Deficiency: BRCA1 Deficiency Impairs Mitophagy and Promotes Inflammasome Activation and Mammary Tumor Metastasis (Adv. Sci. 6/2020)
Sign Up to like & getrecommendations! Published in 2020 at "Advanced Science"
DOI: 10.1002/advs.202070033
Abstract: Mitophagy is a selective autophagic process for clearing damaged mitochondria and maintaining a healthy mitochondrial network. In article number https://doi.org/10.1002/advs.201903616, Qiang Chen, Chu‐Xia Deng, and co‐workers demonstrate breast cancer susceptibility gene 1 (BRCA1) facilitates mitophagy… read more here.
Keywords: inflammasome activation; brca1; mammary tumor; tumor metastasis ... See more keywords
Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Medicine"
DOI: 10.1002/cam4.5159
Abstract: Coding sequences of BRCA1, BRCA2, ATM, TP53, and PALB2 genes were analyzed in 68 consecutive Chechen patients with high‐grade serous ovarian cancer (HGSOC). Pathogenic BRCA1/2 variants were identified in 15 (22%) out of 68 HGSOC… read more here.
Keywords: chechen patients; brca1; brca1 3629; ovarian cancer ... See more keywords
Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Medicine"
DOI: 10.1002/cam4.5430
Abstract: The aldehyde degrading function of the ALDH2 enzyme is impaired by Glu504Lys polymorphisms (rs671, termed A allele), which causes alcohol flushing in east Asians, and elevates the risk of esophageal cancer among habitual drinkers. Recent… read more here.
Keywords: brca1; development; breast; aldh2 rs671 ... See more keywords
Mutation spectra of the BRCA1/2 genes in human breast and ovarian cancer and germline
Sign Up to like & getrecommendations! Published in 2024 at "Environmental and Molecular Mutagenesis"
DOI: 10.1002/em.22614
Abstract: Annotating genomic sequence alterations is sometimes a difficult decision, particularly in missense variants with uncertain pathogenic significance and also in those presumed as germline pathogenic variants. We here suggest that mutation spectrum may also be… read more here.
Keywords: cancer; germline; breast; mutation spectra ... See more keywords
Novel splice‐switching oligonucleotide promotes BRCA1 aberrant splicing and susceptibility to PARP inhibitor action
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Cancer"
DOI: 10.1002/ijc.30574
Abstract: Tumors carrying hereditary mutations in BRCA1, which attenuate the BRCA1 DNA damage repair pathway, are more susceptible to dual treatment with PARP inhibitors and DNA damaging therapeutics. Conversely, breast cancer tumors with nonmutated functional BRCA1… read more here.
Keywords: susceptibility parp; brca1; parp inhibitor; splice switching ... See more keywords
Patients' attitudes regarding genetic counseling before germline BRCA1/2 pathogenic variants testing in Taiwan: A single-country, multi-center, patient-reported outcome study.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1688
Abstract: Germline pathogenic variants of BRCA1 or BRCA2 cause hereditary breast and ovarian cancer syndromes. The present study investigated the participants' understanding and awareness of germline BRCA1/2 pathogenic variants before genetic counseling, the expectations and obstacles… read more here.
Keywords: pathogenic variants; brca1; germline; brca1 pathogenic ... See more keywords
Risk of pancreatic ductal adenocarcinoma associated with carriage of BRCA1 and/or BRCA2 mutation: A systematic review and meta‐analysis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Surgical Oncology"
DOI: 10.1002/jso.26994
Abstract: Germline BRCA1/2 mutations lead to malfunction of DNA damage repair pathways and predispose to pancreatic ductal adenocarcinoma (PDAC). The aim of this study is to synthesise the available research on this topic. Four studies reporting… read more here.
Keywords: brca1; meta analysis; ductal adenocarcinoma; risk ... See more keywords
Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Cancer Research and Clinical Oncology"
DOI: 10.1007/s00432-021-03696-2
Abstract: BRCA1/2 screening for all triple-negative breast cancer (TNBC) patients younger than 60 years may still be an economic burden in China. Further evidences that include incidence and outcome of BRCA1/2 pathogenic variants (PV) screened based… read more here.
Keywords: germline tumor; brca1; tumor brca1; triple negative ... See more keywords
Genetic characterization of BRCA1 and BRCA2 variants in cancer and high-risk family screening cohorts in the UAE population
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Cancer Research and Clinical Oncology"
DOI: 10.1007/s00432-025-06188-9
Abstract: Germline BRCA1/2 (gBRCA1/2) variants are strongly associated with hereditary cancers, and screening for these variants in high-risk populations is recommended for personalized management. This study aims to comprehensively characterize gBRCA1/2 variants in cancer and family… read more here.
Keywords: cancer; variant; screening cohorts; brca1 ... See more keywords
Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms
Sign Up to like & getrecommendations! Published in 2019 at "Breast Cancer Research and Treatment"
DOI: 10.1007/s10549-019-05228-6
Abstract: BackgroundStudies assessing the contribution of non-BRCA1/2 gene mutations to inherited breast cancer (BC) predisposition consistently reported low (up to 4%) yield. The current study aimed at assessing the spectrum of non-BRCA mutations in unselected Israeli… read more here.
Keywords: multigene panel; brca1; breast cancer; panel testing ... See more keywords