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Genetic testing in the inherited arrhythmia clinic informs risk stratification, clinical management, and family screening. Periodic review of variant classification is recommended as supporting evidence accrues over time. However, there is limited reporting of real-world data on the frequency and impact of variant reclassification. The purpose of this study was to determine the burden of variant reclassification in our inherited arrhythmia clinic and the impact on clinical management. Genetic testing reports for patients referred to our clinic from 2004–2020 were reviewed. Reported variants were reinvestigated using ClinVar, VarSome, and a literature review. Classification was updated using the American College of Medical Genetics and Genomics (ACMG) criteria and tested for association with arrhythmic events and modification of medical management. We identified 517 patients (median age 37 years) who underwent gene panel testing. A variant of uncertain significance (VUS) was reported for 94 patients (18.2%) and more commonly identified when using large gene panels (P <.001). A total of 28 of 87 unique VUSs (32.2%) were reclassified to pathogenic/likely pathogenic (n = 11) or benign/likely benign (n = 17). Of 138 originally reported pathogenic variants, 7 (5.1%) lacked support using ACMG criteria. Variant reclassification was not associated with arrhythmic events; however, it did impact genotype-specific counseling and future therapeutic options. In our large real-world patient cohort, we identify a clinically important proportion of both pathogenic variants and VUSs with evidence for reclassification. These findings highlight the need for informed pretest counseling, a regular structured review of variants reported in genetic testing, and the potential benefits to patients for supporting genotype-guided therapy. [ABSTRACT FROM AUTHOR]

Breast cancer is the most common cancer in the UK and in the world, exceeding lung cancer incidence. Screening has resulted in the earlier detection of breast cancer and resulted in a reduction in breast cancer deaths. Symptomatic presentation of breast disease should be investigated in specialized clinics where triple assessment involving clinical, radiological and pathological findings is recommended for optimal care. Treatment for breast cancer falls broadly into four categories – surgery, radiotherapy, chemotherapy (with or without anti-HER-2 treatments) and endocrine therapy. These depend on the type and extent of cancer, and recommendations for treatments should be made within a multidisciplinary team setting. [ABSTRACT FROM AUTHOR]

Raman spectroscopy is an analytical method that is non-invasive, non-destructive and provides chemical information to distinguish between breast micro-calcifications: Type I (benign) and Type II (malignant). B Methods: b Following Ethics approval (IRAS: 210732) and informed consent, wire-guided wide local excision breast specimens were X-rayed intra-operatively, followed by transmission Raman spectroscopy (TRS) measurements. [Extracted from the article]

Drain usage and associated complications in mastectomies and axillary clearance during the 2020 COVID-19 Pandemic. P047. [Extracted from the article]

B Introduction: b ABS, BAPRAS, and BAAPS published guidance on breast lipofilling in 2012. Approximately 1/3 of patients are discussed at OPMDT pre-procedure, however knowledge of current recommendations clearly influences decision making for all patients. [Extracted from the article]

B Introduction: b Lactational mastitis affects a third of breastfeeding women, 11% of whom develop breast abscesses. Inclusion criteria: all female patients over the age of 16 with symptoms of mastitis or breast abscess. [Extracted from the article]

B Background: b Breast angiosarcomas (AS) are rare tumours which may develop spontaneously (primary AS, (PAS)) or secondary to radiotherapy following breast cancer (secondary AS, (SAS)). The management speciality varied with 48.2% (n=80) managed by breast surgeons, 21.7% (n=36) by plastics, 15.7% (n=26) by sarcoma surgeons and 12.0% (n=20) by joint specialty led. B Conclusions: b Angiosarcomas are a rare tumour with a poor prognosis. [Extracted from the article]