A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.

We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier

Engagement barriers and service inequities in the NHS Breast Screening Programme: Views from British-Pakistani women

Objectives: Previous research has largely attempted to explore breast screening experiences of South Asian women by combining opinions from Pakistani, Bangladeshi and Indian women. This research often fails to reach the most underserved sub-groups of this population, with socioeconomic status not routinely reported and English fluency being a participation requirement. With uptake low amongst British-Pakistani women, this study explores the experiences these women encounter when accessing the NHS Breast Screening Programme.Setting: Participants were from East Lancashire, UK. Methods: Nineteen one-to-one semi-structured interviews were carried out with British-Pakistani women. Fourteen interviews were conducted via an interpreter. Results: Data were analysed using thematic analysis. Three themes were identified: ‘Absence of autonomy in screening and healthcare access’ describes how currently the screening service does not facilitate confidentiality or independence. Access requires third-party intervention, with language barriers preventing self-expression. ‘Appraisal of information sources’ makes distinctions between community and NHS communication. Whereas community communication was invaluable, NHS materials were deemed inaccessible due to translation incongruences and incomprehensible terminology. ‘Personal suppositions of breast screening’ explores the subjective issues associated with disengagement, including, the cultural misalignment of the service and perceiving screening as a symptomatic service.Conclusions: British-Pakistani women face some unique challenges when accessing breast screening. To promote uptake, the service needs to address the translation of screening materials and optimise upon community networks to disseminate knowledge, including knowledge of the screening environment within the context of culture to promote informed choice about attendance

Extending screening intervals for women at low risk of breast cancer: do they find it acceptable?

From Springer Nature via Jisc Publications RouterHistory: received 2020-11-27, accepted 2021-04-13, registration 2021-05-12, pub-electronic 2021-05-29, online 2021-05-29, collection 2021-12Publication status: PublishedAbstract: Background: Trials of risk estimation in breast cancer screening programmes, in order to identify women at higher risk and offer extra screening/preventive measures, are ongoing. It may also be feasible to introduce less frequent screening for women at low-risk of breast cancer. This study aimed to establish views of women at low-risk of breast cancer regarding the acceptability of extending breast screening intervals for low-risk women beyond 3 y. Methods: Semi-structured interviews were used to explore views of low-risk women, where “low-risk” was defined as less than 2% estimated 10-year risk of breast cancer aged > 46 years. Low-risk women were identified via the BC-Predict study, where following routine screening, women were given their 10-year risk of breast cancer by letter, along with additional information explaining breast cancer risk factors. To gain diversity of views, purposive sampling by ethnicity and socioeconomic background was used to recruit women. Data were analysed using thematic analysis. Results: Twenty-three women participated in individual interviews. Three themes are reported: (1) A good opportunity to receive risk estimation, where women found it worthwhile to receive a low-risk result although some were surprised if expecting a higher risk result; (2) Multi-faceted acceptability of extended screening intervals, with reactions to less frequent screening dependent on whether women were confident in being low-risk status and current safety evidence, (3) Passive approval versus informed choice, highlighting that women found it difficult to consider choosing less frequent screening without professionals’ recommendations, as they generally viewed attending breast screening as positive. Conclusions: Risk assessment and receiving a low-risk of breast cancer is acceptable although, further research is required with more diverse samples of women. Any recommendation of less frequent screening in this risk group should be evidence-based in order to be acceptable. Communication needs to be carefully developed, with a focus on ensuring informed choice, prior to trialling any extended screening recommendations in future studies

Risk stratified breast cancer screening: UK healthcare policy decision-making stakeholders’ views on a low-risk breast screening pathway

From Springer Nature via Jisc Publications RouterHistory: received 2020-05-07, accepted 2020-07-09, registration 2020-07-10, pub-electronic 2020-07-22, online 2020-07-22, collection 2020-12Publication status: PublishedFunder: Manchester Biomedical Research Centre; doi: http://dx.doi.org/10.13039/100014653; Grant(s): IS-BRC-1215-200007Funder: Programme Grants for Applied Research; doi: http://dx.doi.org/10.13039/501100007602; Grant(s): RP-PG-1214-20016Funder: Breast Cancer Now; doi: http://dx.doi.org/10.13039/100009794; Grant(s): 2018RP005Abstract: Background: There is international interest in risk-stratification of breast screening programmes to allow women at higher risk to benefit from more frequent screening and chemoprevention. Risk-stratification also identifies women at low-risk who could be screened less frequently, as the harms of breast screening may outweigh benefits for this group. The present research aimed to elicit the views of national healthcare policy decision-makers regarding implementation of less frequent screening intervals for women at low-risk. Methods: Seventeen professionals were purposively recruited to ensure relevant professional group representation directly or indirectly associated with the UK National Screening Committee and National Institute for Health and Care Excellence (NICE) clinical guidelines. Interviews were analysed using thematic analysis. Results: Three themes are reported: (1) producing the evidence defining low-risk, describing requirements preceding implementation; (2) the impact of risk stratification on women is complicated, focusing on gaining acceptability from women; and (3) practically implementing a low-risk pathway, where feasibility questions are highlighted. Conclusions: Overall, national healthcare policy decision-makers appear to believe that risk-stratified breast screening is acceptable, in principle. It will however be essential to address key obstacles prior to implementation in national programmes