İstanbul Gelişim Üniversitesi Sağlık Bilimleri Dergisi, 2021 Amaç: Meme kanseri, kadınlarda en yaygın görülen kanser türü olup, Göğüs Kanseri Duyarlılık gen (BRCA1 ve BRCA2) mutasyonlarının meme ve yumurtalık kanserlerinin önemli bir kısmından sorumlu olduğu bilinmektedir.
İlter Güney, Gözde Girgin Özgümüş
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Clinical consequences of BRCA2 hypomorphism [PDF]
npj Breast Cancer, 2021 AbstractThe tumor suppressor FANCD1/BRCA2 is crucial for DNA homologous recombination repair (HRR). BRCA2 biallelic pathogenic variants result in a severe form of Fanconi anemia (FA) syndrome, whereas monoallelic pathogenic variants cause mainly hereditary breast and ovarian cancer predisposition.
Laia Castells-Roca +17 more
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Rapid Evolution of BRCA1 and BRCA2 in Humans and Other Primates [PDF]
, 2014 The maintenance of chromosomal integrity is an essential task of every living organism and cellular repair mechanisms exist to guard against insults to DNA.
Demogines, Ann M. +6 more
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BRCA2 Haploinsufficiency in Telomere Maintenance [PDF]
Genes, 2021 Our previous studies showed an association between monoallelic BRCA2 germline mutations and dysfunctional telomeres in epithelial mammary cell lines and increased risk of breast cancer diagnosis for women with BRCA2 999del5 germline mutation and short telomeres in blood cells.
Soffía R. Gunnarsdottir +6 more
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Mutations in pathways depending on BRCA1 and BRCA2 may increase cancer risks from an environmental carcinogen [PDF]
, 2011 Recently, the President’s Cancer Panel [2008-2009] protested that preventive action is not taken when uncertainty exists about potential harm from a chemical, because the US regulatory approach demands that a hazard be incontrovertibly ...
Bernard Friedenson
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BRCA2 and homologous recombination [PDF]
Breast Cancer Research, 2001 Two recent papers provide new evidence relevant to the role of the breast cancer susceptibility gene BRCA2 in DNA repair. Moynahan et al provide genetic data indicating a requirement for BRCA2 in homology-dependent (recombinational) repair of DNA double-strand breaks.
B J, Orelli, D K, Bishop
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RPA, RFWD3 and BRCA2 at stalled forks: a balancing act
Molecular & Cellular Oncology, 2020 We recently identified E3 ligase RFWD3 as a modulator of stalled fork stability in BRCA2-deficient cells. We also show that BRCA1 might function upstream of BRCA2 during fork repair and that blocking fork degradation by depleting MRE11 does not guarantee
Haohui Duan, Shailja Pathania
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Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline [PDF]
, 2018 Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment.
Amanti, C +11 more
core +1 more source
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation [PDF]
, 2016 Background: Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the
A Pijpe +67 more
core +4 more sources
Clinical outcomes and prognostic features of germline BRCA mutant breast cancer patients: single-center experience, Madinah, Saudi Arabia [PDF]
World Cancer Research JournalObjective: The aim of this study is to evaluate the clinicopathological features and prognostic impact of breast cancer harboring germline BRCA1/2 mutation.
M. Aljahel +16 more
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