Articles with "brca1 mutations" as a keyword



Cost-Effectiveness of Adjuvant Olaparib for Patients With Breast Cancer and Germline BRCA1/2 Mutations

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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… read more here.

Keywords: breast cancer; adjuvant olaparib; germline brca1; olaparib ... See more keywords

Decision Support for Clinician Referral of Patients With Potential BRCA1/2 Mutations for Genetic Counseling

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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. read more here.

Keywords: decision support; mutations genetic; referral patients; patients potential ... See more keywords

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility

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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 >… read more here.

Keywords: cancer; brca1 mutations; fanconi anemia; breast cancer ... See more keywords

Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms

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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… read more here.

Keywords: multigene panel; brca1; breast cancer; panel testing ... See more keywords
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Navigating the body of literature assessing BRCA1/2 mutations and markers of ovarian function: a systematic review and meta-analysis

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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… read more here.

Keywords: brca1 mutations; analysis; review; meta analysis ... See more keywords

Germline BRCA1/2 mutations and severe haematological toxicities in patients with breast cancer treated with neoadjuvant chemotherapy.

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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… read more here.

Keywords: chemotherapy; brca1; haematological toxicities; cancer ... See more keywords

Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.

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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… read more here.

Keywords: prostate; prostate cancer; atm mutations; brca1 mutations ... See more keywords
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Combination ATR and PARP Inhibitor (CAPRI): A phase 2 study of ceralasertib plus olaparib in patients with recurrent, platinum-resistant epithelial ovarian cancer.

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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… read more here.

Keywords: platinum; capri; ovarian cancer; platinum resistant ... See more keywords

Predicting BRCA mutation and stratifying targeted therapy response using multimodal learning: a multicenter study

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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… read more here.

Keywords: model; status; therapy response; study ... See more keywords

Routine Plasma-Based Genotyping to Comprehensively Detect Germline, Somatic, and Reversion BRCA Mutations among Patients with Advanced Solid Tumors

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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… read more here.

Keywords: patients advanced; germline; brca1 mutations; germline somatic ... See more keywords

Abstract P6-10-05: UPTAKE study - Uptake of preventive surgeries among Latinas with BRCA1/2 mutations

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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… read more here.

Keywords: uptake prophylactic; brca1; study; brca1 mutations ... See more keywords