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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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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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
Navigating the body of literature assessing BRCA1/2 mutations and markers of ovarian function: a systematic review and meta-analysis
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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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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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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
Combination ATR and PARP Inhibitor (CAPRI): A phase 2 study of ceralasertib plus olaparib in patients with recurrent, platinum-resistant epithelial ovarian cancer.
Sign Up to like & getrecommendations! 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
Routine Plasma-Based Genotyping to Comprehensively Detect Germline, Somatic, and Reversion BRCA Mutations among Patients with Advanced Solid Tumors
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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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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
Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome
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DOI: 10.2147/cmar.s206817
Abstract: Aim of work Reporting the incidence and the variants of BRCA1/2 mutations in ovarian cancer patients exploring their effects on the treatment outcomes. Patients and methods In total, 104 patients with epithelial ovarian cancer were… read more here.
Keywords: brca1 mutations; ovarian cancer; treatment; cancer ... See more keywords
BRCA1/2 Mutations and Cardiovascular Function in Breast Cancer Survivors
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DOI: 10.3389/fcvm.2022.833171
Abstract: Objective Animal models suggest that BRCA1/2 mutations increase doxorubicin-induced cardiotoxicity risk but data in humans are limited. We aimed to determine whether germline BRCA1/2 mutations are associated with cardiac dysfunction in breast cancer survivors. Methods… read more here.
Keywords: function; brca1 mutations; breast cancer; cancer ... See more keywords
Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer
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DOI: 10.3389/fonc.2022.745796
Abstract: Background Genetic testing for breast cancer (BC) patients may shift the paradigm towards more personalized management and treatment strategies. While gene alterations may be ethnic-specific in breast cancer, our understanding of genetic epidemiology of BC… read more here.
Keywords: brca1 mutations; germline; breast cancer; chinese patients ... See more keywords