Electronically ascertained extended pedigrees in breast cancer genetic counseling

AbstractA comprehensive pedigree, usually provided by the counselee and verified by medical records, is essential for risk assessment in cancer genetic counseling. Collecting the relevant information is time-consuming and sometimes impossible. We studied the use of electronically ascertained pedigrees (EGP). The study group comprised women (n  = 1352) receiving HBOC genetic counseling between December 2006 and December 2016 at Landspitali in Iceland. EGP’s were ascertained using information from the population-based Genealogy Database and Icelandic Cancer Registry. The likelihood of being positive for the Icelandic founderBRCA2 pathogenic variant NM_000059.3:c.767_771delCAAAT was calculated using the risk assessment program Boadicea. We used this unique data to estimate the optimal size of pedigrees, e.g., those that best balance the accuracy of risk assessment using Boadicea and cost of ascertainment. Sub-groups of randomly selected 104 positive and 105 negative women for the founderBRCA2 PV were formed and Receiver Operating Characteristics curves compared for efficiency of PV prediction with a Boadicea score. The optimal pedigree size included 3 ° relatives or up to five generations with an average no. of 53.8 individuals (range 9–220) (AUC 0.801). Adding 4° relatives did not improve the outcome. Pedigrees including 3° relatives are difficult and sometimes impossible to generate with conventional methods. Pedigrees ascertained wit...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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ConclusionsThe results of this study showed that lung volume changes were not a cause for concern in breast cancer patients. There are three reasons to support this conclusion. Lung volume changes and percentage reductions in LVP for each Gy increase of MLD and each percentage increase of V20 in each lobe were small; patients were asymptomatic during the follow-up period; and LVP showed partial improvements after 6 months.
Source: Reports of Practical Oncology and Radiotherapy - Category: Cancer & Oncology Source Type: research
ConclusionUsing robust optimization for skin flash in breast IMRT planning is feasible. Further investigation is warranted to confirm the clinical effectiveness of this novel approach.
Source: Practical Radiation Oncology - Category: Cancer & Oncology Source Type: research
ConclusionsThe exposure –response analysis suggested that intermittent 7-day veliparib 120 mg BID dosing in a 21-day cycle provided additional efficacy without meaningfully impacting the safety and tolerability when co-administered with carboplatin and paclitaxel in patients with BRCA-deficient breast cancer. A higher d ose of veliparib is unlikely to provide greater benefit in this combination in patients with BRCA-deficient recurrent or metastatic breast cancer.
Source: Cancer Chemotherapy and Pharmacology - Category: Cancer & Oncology Source Type: research
Date: Wednesday, 10 16, 2019; Speaker: Rowan Chlebowski, MD, PhD, Chief and Senior Investigator, Harbor-UCLA Medical Center; Building: Building 10 (Clinical Center); Lipsett Amphitheater
Source: NIH Calendar of Events - Category: American Health Source Type: events
Publication date: 15 October 2019Source: Cell Reports, Volume 29, Issue 3Author(s): Tung Bui, Jonathan Rennhack, Stephanie Mok, Chen Ling, Marco Perez, Joshua Roccamo, Eran R. Andrechek, Christopher Moraes, William J. MullerSummaryIntegrin receptors coordinate cell adhesion to the extracellular matrix (ECM) to facilitate many cellular processes during malignant transformation. Despite their pro-tumorigenic roles, therapies targeting integrins remain limited. Here, we provide genetic evidence supporting a functional redundancy between β1 and β3 integrin during breast cancer progression. Although ablation of β...
Source: Cell Reports - Category: Cytology Source Type: research
Publication date: Available online 15 October 2019Source: Advances in Biological RegulationAuthor(s): Sandeep K. Singh, Sarah SpiegelAbstractTriple-negative breast cancer (TNBC) is very aggressive with high metastatic and mortality rates and unfortunately, except for chemotherapy, there are few therapeutic options. The bioactive sphingolipid metabolite sphingosine-1-phosphate (S1P) regulates numerous processes important for cancer progression, metastasis, and neuropathic pain. The pro-drug FTY720 (fingolimod, Gilenya) used to treat multiple sclerosis is phosphorylated in the body to a S1P mimic that binds to S1PRs, except ...
Source: Advances in Biological Regulation - Category: Biology Source Type: research
Publication date: Available online 1 October 2019Source: Colloids and Surfaces B: BiointerfacesAuthor(s): Wei Liu, Kaixiang Zhang, Luyang Zhuang, Junjie Liu, Wu Zeng, Jinjin Shi, Zhenzhong ZhangABSTRACTHerein, we report a turn-on strategy for selectively killing the tumor cell via combining the singlet-oxygen quenching MnO2 and tumor cell-targeting aptamer. The photosensitizers were in the quenching state when loaded in the mesoporous MnO2 (mMnO2) nanoparticles and sealed by the aptamer on the particle surface. The aptamer can selectively recognize the specific membrane protein on the tumor cell and release the photosensit...
Source: Colloids and Surfaces B: Biointerfaces - Category: Biochemistry Source Type: research
Pension problems and staff shortages have caused cancer waits to surge at a West Midlands trust.
Source: HSJ - Category: UK Health Source Type: news
Women must be offered lunchtime mammograms or smear tests to halt a collapse in screening rates, a report commissioned by the NHS has stated.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Serena Nik-Zainal, MD, discusses study findings that could change the way treatment strategies for subgroups of patients with triple-negative breast cancer are evaluated.
Source: CancerNetwork - Category: Cancer & Oncology Authors: Source Type: news
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