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Published in 2024 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2023.50067
Abstract: Key Points Question Is adjuvant olaparib cost-effective in patients with early-stage breast cancer with high-risk disease and germline BRCA1/2 mutations? Findings In an economic evaluation using a Markov model, adjuvant olaparib therapy was associated with…
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Keywords:
breast cancer;
adjuvant olaparib;
germline brca1;
olaparib ... See more keywords
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Published in 2024 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2024.41175
Abstract: This secondary analysis of a randomized clinical trial reports primary care clinician outcomes of decision support tools for referral of patients with potential BRCA1/2 mutations for genetic counseling.
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Keywords:
decision support;
mutations genetic;
referral patients;
patients potential ... See more keywords
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Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.863
Abstract: Biallelic BRCA1 mutations are regarded either embryonically lethal or to cause Fanconi anemia (FA), a genomic instability syndrome characterized by bone marrow failure, developmental abnormalities, and cancer predisposition. We report biallelic BRCA1 mutations c.181T >…
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Keywords:
cancer;
brca1 mutations;
fanconi anemia;
breast cancer ... See more keywords
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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…
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Keywords:
multigene panel;
brca1;
breast cancer;
panel testing ... See more keywords
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Published in 2020 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-020-01745-2
Abstract: Twelve percent of women in the USA will develop invasive breast cancer in their lifetime, and that risk increases to 80% if they carry a BRCA1 or BRCA2 mutation. BRCA1/2 mutations are thought to potentially…
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Keywords:
brca1 mutations;
analysis;
review;
meta analysis ... See more keywords
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Published in 2021 at "European journal of cancer"
DOI: 10.1016/j.ejca.2020.12.007
Abstract: BACKGROUND BRCA1 and BRCA2 play a central role in DNA repair. Therefore, patients harbouring germline (g) BRCA1/2 mutations (m) treated with chemotherapy might be at higher risk of haematological toxicities. METHODS Patients from German Breast…
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Keywords:
chemotherapy;
brca1;
haematological toxicities;
cancer ... See more keywords
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Published in 2019 at "European urology"
DOI: 10.1016/j.eururo.2019.02.002
Abstract: BACKGROUND Poly ADP-ribose polymerase (PARP) inhibitors, such as olaparib, are being explored as a treatment option for metastatic castration-resistant prostate cancer (mCRPC) in men harboring mutations in homologous recombination DNA-repair genes. Whether responses to PARP…
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Keywords:
prostate;
prostate cancer;
atm mutations;
brca1 mutations ... See more keywords
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Published in 2021 at "Gynecologic oncology"
DOI: 10.1016/j.ygyno.2021.08.024
Abstract: OBJECTIVE Platinum-resistant, high-grade serous ovarian cancer (HGSOC) has limited treatment options. Preclinical data suggest that poly(ADP-ribose) polymerase inhibitors (PARPi) and ataxia telangiectasia and Rad3-related kinase inhibitors (ATRi) are synergistic. CAPRI (NCT03462342) is an investigator-initiated study…
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Keywords:
platinum;
capri;
ovarian cancer;
platinum resistant ... See more keywords
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Published in 2024 at "Annals of Medicine"
DOI: 10.1080/07853890.2024.2399759
Abstract: Abstract Background The status of BRCA1/2 genes plays a crucial role in the treatment decision-making process for multiple cancer types. However, due to high costs and limited resources, a demand for BRCA1/2 genetic testing among…
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Keywords:
model;
status;
therapy response;
study ... See more keywords
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Published in 2020 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-19-2933
Abstract: Purpose: PARP inhibitors (PARPi) are efficacious in multiple cancers harboring germline (and possibly somatic) BRCA1/2 mutations. Acquired reversions can restore BRCA1/2 function, causing resistance to PARPi and/or platinum-based chemotherapy. The optimal method of identifying patients…
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Keywords:
patients advanced;
germline;
brca1 mutations;
germline somatic ... See more keywords
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Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.sabcs17-p6-10-05
Abstract: Introduction: Germline testing for BRCA1/2 genes provides an opportunity to reduce mortality and morbidity by adopting appropriate risk reduction and screening options, in particular with risk-reducing bilateral salpingo-oophorectomy (BSO).There is a paucity of data on…
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Keywords:
uptake prophylactic;
brca1;
study;
brca1 mutations ... See more keywords