Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next ‐generation sequencing

In this study, therefore, we performed next ‐generation sequencing (NGS) analysis of the entire coding regions ofBRCA1 andBRCA2 in 135 breast and/or ovarian cancer patients. DeleteriousBRCA1 andBRCA2 mutations were detected in 10 patients (7.4%) by NGS analysis. Of these, one mutation inBRCA1 and two inBRCA2 had not been reported previously. Furthermore, aBRCA2 mutation found in a proband was also identified in two unaffected relatives. These data suggest the utility of screeningBRCA1 andBRCA2 mutations by NGS in clinical diagnosis.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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Publication date: Available online 23 August 2019Source: Pharmacological ResearchAuthor(s): Qining Yang, Changyuan Wang, Yue Jin, Xiaodong Ma, Tianqi Xie, Jiaying Wang, Kexin Liu, Huijun SunAbstractAtherosclerosis (AS) is one of the major causes leading to mortality of dysfunctional cardiovascular events in the menopausal women, which has long-term deficiency of estrogen. At present, the primary treatment for postmenopausal AS is hormone replacement therapy (HRT). However, it can increase the risks of ovarian and uterine cancers with long-term therapy. So seeking for a phytoestrogen which can overcome the disadvantages of ...
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
This study aimed to investigate whether β-blocker use is associated with improved survival in ovarian cancer patients at the Belgian population level.MethodsWe conducted a population-based study by linking data of the Belgian Cancer Registry with medical claims data of the health insurance companies for patients diagnosed with ovarian cancer between 2004 and 2014. Information on ovarian-cancer-specific deaths was retrieved from mortality records collected by regional governments. Use of β-blockers was modelled as a time-varying covariate in Cox regression models to calculate adjusted hazards ratios (HRs) and 95% ...
Source: Cancer Epidemiology - Category: Cancer & Oncology Source Type: research
Date: Wednesday, 09 18, 2019; Speaker: Romina Goldszmid, PhD, Earl Stadtman Investigator, Cancer and Inflammation Program, , NCI; Christina M. Annunziata, MD, PhD, Investigator, Women ’s Malignancies Branch, NCI; Building: Building 10 (Clinical Center); Masur Auditorium ; CME Credit
Source: NIH Calendar of Events - Category: American Health Source Type: events
Jack Stewart, CSO of Soricimed Biopharma elaborates on how SOR-C18 potentially showing promise in ovarian, metastatic prostate and pancreatic cancer. Author: Cancer-News Added: 08/23/2019
Source: Oncology Tube - Category: Cancer & Oncology Source Type: podcasts
Publication date: 15 December 2019Source: Journal of Molecular Structure, Volume 1198Author(s): Liji John, Arish Dasan, R. Selwin Joseyphus, I. Hubert JoeAbstractCo(II), Ni(II), Cu(II) and Zn(II) complexes of Schiff base ligand (thio-L-his) derived from thiophene-2-carboxaldehyde (thio) with l-histidine (L-his) were synthesised. The thio-L-his and its metal complexes have been optimized and quantum chemical parameters are calculated using density functional theory. Despite several donor sites in the synthesised thio-L-his, the coordination with metal ion occurred through azomethine nitrogen and carboxylate oxygen as eviden...
Source: Journal of Molecular Structure - Category: Molecular Biology Source Type: research
CONCLUSION: LESS surgery using an angiocatheter needle, with leaving only a small postoperative scar, was deemed feasible for the management of huge ovarian cysts. PMID: 31433584 [PubMed - in process]
Source: Yonsei Medical Journal - Category: Universities & Medical Training Authors: Tags: Yonsei Med J Source Type: research
Experts at Weill Cornell Medicine in New York are using gene editing tool CRISPR to alter a string of human genetic code which is known to increase the risk of developing some cancers.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
AbstractBreast cancer is the commonest malignancy affecting females. Hormone-positive cancers carry a better prognosis. Many adjuvant and palliative endocrine therapies are in use, including surgical ablation. We retrospectively studied seventy-four patients who did bilateral salpingo-oophorectomy (BSO)/bilateral oophorectomy (BO) for factors affecting survival and prognosis. BSO was superior in overall and progression-free survival. Incidental ovarian metastasis carried a grave prognosis. Surgical hormonal ablation is a viable option with laparoscopic BSO as the approach of choice.
Source: Indian Journal of Surgical Oncology - Category: Cancer & Oncology Source Type: research
Publication date: Available online 22 August 2019Source: Cancer CellAuthor(s): Salma Parvin, Ariel Ramirez-Labrada, Shlomzion Aumann, XiaoQing Lu, Natalia Weich, Gabriel Santiago, Elena M. Cortizas, Eden Sharabi, Yu Zhang, Isidro Sanchez-Garcia, Andrew J. Gentles, Evan Roberts, Daniel Bilbao-Cortes, Francisco Vega, Jennifer R. Chapman, Ramiro E. Verdun, Izidore S. LossosSummaryDeficiency in DNA double-strand break (DSB) repair mechanisms has been widely exploited for the treatment of different malignances, including homologous recombination (HR)-deficient breast and ovarian cancers. Here we demonstrate that diffuse large B...
Source: Cancer Cell - Category: Cancer & Oncology Source Type: research
For female patients facing fertility-impairing treatment for select cancers and other medical conditions, fertility-preserving surgeries have evolved to meet the needs of those who desire fertility preservation. Over the last 70  years, advances in surgical options for fertility preservation have vastly increased in scope and availability. Major breakthroughs in fertility-preservation surgeries include the development of ovarian transposition procedures as well as uterine fixation; both procedures move these vital reproduc tive organs away from radiation fields to help protect and preserve future fertility.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Views and reviews Source Type: research
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