Moving into the mainstream: healthcare professionals ’ views of implementing treatment focussed genetic testing in breast cancer care

This study sought to determine genetics and non-genetics specialists’ views of a proposal to mainstreamBRCA1 and2 testing in newly diagnosed breast cancer patients. Qualitative interview study. Nineteen healthcare professionals currently responsible for offering TFGT in a standard (triage  + referral) pathway (breast surgeons + clinical genetics team) and oncologists preparing to offer TFGT to breast cancer patients in a mainstreamed pathway participated in in-depth interviews. Genetics and non-genetics professionals’ perceptions of mainstreaming are influenced by their vie ws of: their clinical roles and responsibilities, the impact of TFGT on their workload and the patient pathway and the perceived relevance of genetic testing for patient care in the short-term. Perceived barriers to mainstreaming may be overcome by: more effective communication between specialities, clearer guidelines/patient pathways and the recruitment of mainstreaming champions.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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In conclusion, our data showed differences in the distribution of the mutation spectrum of BRCA1 and BRCA2 in Turkey.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research
Approximately 10% of breast cancer (BC) cases are hereditary BC (HBC), with HBC most commonly encountered in the context of hereditary breast and ovarian cancer (HBOC) syndrome. Although thousands of loss-of-function (LoF) alleles in over 20 genes have been associated with HBC susceptibility, the genetic etiology of approximately 50% of cases remains unexplained, even when polygenic risk models are considered. We focused on one of the least-studied European populations and applied whole-exome sequencing (WES) to 52 individuals from 17 Greek HBOC families, in which at least one patient was negative for known HBC risk varian...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
AbstractPARP (poly(ADP-ribose) polymerase) inhibitors represent a novel class of anti-cancer therapy; they take advantage of synthetic lethality and induce cell death by exploiting a defect in DNA repair. This class of medication was initially evaluated in patients with BRCA-associated tumors, but efficacy was also demonstrated in other populations. Since 2014, four PARP inhibitors have been approved in various indications: olaparib, niraparib, and rucaparib in high-grade serous ovarian cancer, and olaparib and talazoparib in metastatic breast cancer. The exact indications and study populations vary slightly between the di...
Source: Targeted Oncology - Category: Cancer & Oncology 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
CONCLUSIONS: Postmenopausal women with high/increasing ET are at increased risk of breast, ovarian and lung cancer. It is important that clinicians are aware of these risks as TVS is a common investigation. This article is protected by copyright. All rights reserved. PMID: 31614036 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Abstract AP-1 is a dimeric complex that is composed of JUN, FOS, ATF and MAF protein families. FOS-related antigen 1 (FRA1) which encoded by FOSL1 gene, belongs to the FOS protein family, and mainly forms an AP-1 complex with the protein of the JUN family to exert an effect. Regulation of FRA1 occurs at levels of transcription and post-translational modification, and phosphorylation is the major post-translational modification. FRA1 is mainly regulated by the mitogen-activated protein kinases signaling pathway and is degraded by ubiquitin-independent proteasomes. FRA1 can affect biological functions, such as tumor...
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Tags: Mol Biol Rep Source Type: research
NICE approves rucaparib for use on NHS Related items fromOnMedica Drug for hereditary ovarian cancer approved Cancer drugs to be re-evaluated Red tape delaying availability of new cancer drugs Is crowdfunding for cancer patients paying for ‘quackery’? NICE rejects breast cancer drug for NHS funding
Source: OnMedica Latest News - Category: UK Health Source Type: news
ConclusionsWomen with a benign ovarian tumor were at increased risk of breast cancer. This association was largely confined to women with a solid ovarian tumor, and the excess risk was present 20  years or more after the ovarian tumor diagnosis. The underlying mechanism is unknown and should be investigated further.
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
AbstractPurposeWhile the spectrum of germline mutations inBRCA1/2 genes in the Israeli Jewish population has been extensively studied, there is a paucity of data pertaining to Israeli Arab high-risk cases.MethodsConsecutive Israeli Arab breast and/or ovarian cancer patients were recruited using an ethically approved protocol from January 2012 to February 2019. All ovarian cancer cases were referred forBRCA genotyping. Breast cancer patients were offeredBRCA sequencing and deletion/duplication analysis after genetic counseling, if the calculated risk for carrying aBRCA mutation by risk prediction algorithms was ≥10%.Resu...
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
Abstract A basic concept of cancer management is that prevention or early detection is more effective than treating advanced stage disease. Genetic stratification of risk is one way to prioritise patients for screening programs or risk reducing surgery. This is particularly appropriate in respect to high penetrance genes such as BRCA1 and BRCA2 when the malignancies that can be prevented are as deadly as triple negative breast cancer and high grade serous ovarian cancer. Access to BRCA1 and BRCA2 germline sequencing is currently largely based upon family history. PMID: 31605662 [PubMed - as supplied by publisher]
Source: BJOG : An International Journal of Obstetrics and Gynaecology - Category: OBGYN Authors: Tags: BJOG Source Type: research
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