Next-Generation Sequencing of the and Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer

Genetic testing for hereditary breast and/or ovarian cancer mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the BRCA1 and BRCA2 genes. We explored a more efficient genetic screening strategy based on next-generation sequencing of the BRCA1 and BRCA2 genes in 210 hereditary breast and/or ovarian cancer patients. We first validated this approach in a cohort of 115 samples with previously known BRCA1 and BRCA2 mutations and polymorphisms. Genomic DNA was amplified using the Ion AmpliSeq BRCA1 and BRCA2 panel.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research

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CONCLUSIONS: Olaparib is effective and safe in real world setting. Data on post-progression treatments seem to suggest cross resistance with chemotherapy and need to be confirmed in larger studies because of the potential importance in clinical practice decisions. PMID: 31699415 [PubMed - as supplied by publisher]
Source: Gynecologic Oncology - Category: Cancer & Oncology Authors: Tags: Gynecol Oncol Source Type: research
We describe a case involving a 67-year-old ovarian cancer patient who underwent multiple lines of chemotherapy and presented with recurrent disease and a CA-125 of 4112 U/mL. Thenceforth, she was treated with GL-ONC1 oncolytic viral therapy that was administered laparoscopically in accordance with a clinical trial. The patient subsequently received chemotherapy and during the fourth cycle, her CA-125 decreased to 99 U/mL; moreover, a computed tomography scan of the pelvis exhibited significant disease reduction. Viral therapy hypothetically confers significant promise in the treatment of recurrent ovarian cancer, especiall...
Source: Anti-Cancer Drugs - Category: Cancer & Oncology Tags: Case Reports Source Type: research
CONCLUSION: Although numerous in vitro and in vivo studies have demonstrated the safety and effectiveness of the use of SPIONs for both diagnostic and therapeutic applications, there is relatively little progress towards translation to clinical applications involving breast, ovarian and cervical cancer. PMID: 31622217 [PubMed - as supplied by publisher]
Source: Current Drug Metabolism - Category: Drugs & Pharmacology Authors: Tags: Curr Drug Metab Source Type: research
AbstractIntroductionSurgery by open radical hysterectomy for cervical cancer is associated with sexual dysfunction as well as lymphedema and bladder problems. Our aim was to assess the impact of robot ‐assisted laparoscopic radical hysterectomy (RRH) with pelvic lymphadenectomy for early‐stage cervical cancer on sexual, bowel, bladder, and lymphatic function and to measure ovarian function after RRH.Material and methodsTwenty ‐six women with early‐stage cervical cancer during 2011‐2013 were investigated before and 1 year after RRH using a validated questionnaire measuring psychological well‐being and sexua...
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
ConclusionLaparoscopic approach to isolated relapse of ovarian cancer is feasible and safe, with fast recovery
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
ConclusionIt is important to maintain a suspicion for GI tract metastasis in breast cancer patients who present with abdominal mass or GI symptoms, as this aids in prompt institution of accurate and appropriate management.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
ConclusionsOvarian tissue cryopreservation followed by autotransplantation is an effective method to restore fertility (live ‐birth rate of 57%). The usage rate of 8.7% (6/69) indicates that more knowledge about the risk of premature ovarian insufficiency after gonadotoxic treatment is needed to be able to offer ovarian tissue cryopreservation more selectively.
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
n C Abstract In March 2019, Harter et al. published the results of the LION study (Lymphadenectomy in patients with advanced ovarian neoplasms) which raises the question of pelvic and para-aortic lymphadenectomy for patients with advanced-stage epithelial ovarian cancer (EOC). These results influenced the new French recommendations published in December 2018 by the French National Cancer Institute (INCa). Thus, it no longer seems consistent to perform a systematic lymphadenectomy for patients for whom there is no argument for nodal involvement, when a macroscopic complete peritoneal cytoreductive surgery has been ...
Source: Bulletin du Cancer - Category: Cancer & Oncology Authors: Tags: Bull Cancer Source Type: research
How can you have a moonshot trying to cure cancer and not mention people dying of cancer?I believed the narrative that is pushed on women, that if you check your breasts and if you catch it early, you’re fine.ide class="right-rail__container right-rail__container--ad"> Lianne Kraemer had been living with metastatic breast cancer for more than a year when I met her in December 2017 at the Henry B. González Convention Center in San Antonio. Throughout the week, more than 7,000 doctors, scientists and pharmaceutical-company representatives would descend on the city for the country’s most impor...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Breast Cancer health Source Type: news
AbstractIntroductionTo assess the clinical impact of preoperative fludeoxyglucose (FDG) with positron emission tomography (PET) and computed tomography (CT) in women with ovarian, fallopian tube, or peritoneal cancer with focus on consequences of added findings (AFs).Material and methodsFDG ‐PET/CT was implemented as a standard imaging modality for women with newly diagnosed ovarian, fallopian tube, or peritoneal cancer at our institution in 2008. After full implementation, all preoperative scans were reviewed and AFs were evaluated from January 2011 to December 2012. Decisions regar ding further examination made at the ...
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
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