The introduction of risk stratified screening into the NHS breast screening Programme: views from British-Pakistani women
AuthorsWoof, Victoria G.; orcid: 0000-0003-4069-5188; email: email@example.com
French, David P.; orcid: 0000-0002-7663-7804
Ulph, Fiona; orcid: 0000-0003-3590-6542
Qureshi, Nadeem; orcid: 0000-0003-4909-0644
Evans, D. Gareth; orcid: 0000-0002-8482-5784
Donnelly, Louise S.; orcid: 0000-0002-6570-7272
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AbstractAbstract: Background: UK national guidelines suggest women at high-risk of breast cancer should be offered more frequent screening or preventative medications. Currently, only 1 in 6 high-risk women are identified. One route to identify more high-risk women is via multifactorial risk assessment as part of the UK’s NHS Breast Screening Programme (NHSBSP). As lower socioeconomic and minority ethnic populations continue to experience barriers to screening, it is important that any new service does not exacerbate issues further. To inform service development, this study explored views of women from underserved backgrounds regarding the introduction of risk stratification into the NHSBSP. Methods: Nineteen semi-structured interviews were conducted with British-Pakistani women from low socioeconomic backgrounds from East Lancashire, UK. Fourteen interviews were conducted via an interpreter. Results: Thematic analysis produced three themes. Attitudes toward risk awareness concerns the positive views women have toward the idea of receiving personalised breast cancer risk information. Anticipated barriers to accessibility emphasises the difficulties associated with women’s limited English skills for accessing information, and their I.T proficiency for completing an online risk assessment questionnaire. Acceptability of risk communication strategy highlights the diversity of opinion regarding the suitability of receiving risk results via letter, with the option for support from a healthcare professional deemed essential. Conclusions: The idea of risk stratification was favourable amongst this underserved community. To avoid exacerbating inequities, this new service should provide information in multiple languages and modalities and offer women the opportunity to speak to a healthcare professional about risk. This service should also enable completion of personal risk information via paper questionnaires, as well as online.
CitationBMC Cancer, volume 20, issue 1, page 452
DescriptionFrom Springer Nature via Jisc Publications Router
History: received 2019-12-16, accepted 2020-05-13, registration 2020-05-14, pub-electronic 2020-05-20, online 2020-05-20, collection 2020-12
Publication status: Published
Funder: NIHR Programme Grants for Applied Research (GB); Grant(s): RP-PG-1214-200016
Funder: Manchester Biomedical Research Centre; doi: http://dx.doi.org/10.13039/100014653; Grant(s): IS-BRC-1215-20007
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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database StudyDominguez-Valentin, Mev; orcid: 0000-0001-7856-0057; email: Mev.Dominguez.Valentin@rr-research.no; Plazzer, John-Paul; orcid: 0000-0001-5114-4301; email: firstname.lastname@example.org; Sampson, Julian R.; email: Sampson@cardiff.ac.uk; Engel, Christoph; orcid: 0000-0002-7247-282X; email: email@example.com; Aretz, Stefan; orcid: 0000-0002-5228-1890; email: firstname.lastname@example.org; Jenkins, Mark A.; email: email@example.com; Sunde, Lone; email: firstname.lastname@example.org; Bernstein, Inge; email: email@example.com; Capella, Gabriel; orcid: 0000-0002-4669-7320; email: firstname.lastname@example.org; Balaguer, Francesc; orcid: 0000-0002-0206-0539; email: email@example.com; et al. (MDPI, 2021-06-28)Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.
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