Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)
Clinical testing with chromosomal microarray (CMA) is most commonly undertaken for clinical indications such as intellectual disability, dysmorphic features and/or congenital abnormalities.
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2
Our study aimed to establish 'real-world' performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants who defer risk-reducing bilateral salpingo-oophorectomy (RRSO).
Prospective analysis of 895 patients on a UK Genomics Review Board
The increasing frequency and complexity of cancer genomic profiling represents a challenge for the oncology community.
Advances in the recognition and management of hereditary cancer
Constitutional mutations in genes controlling DNA repair, cell-cycle regulation and cell apoptosis can determine an individual's tendency to develop cancer.
Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication
The National Institute of health and Care Excellence issued guidelines on familial breast cancer screening in 2004. Such guidelines should be uniformly implemented to ensure that members of the same family with the same level of risk, but living in different areas, have the same access to screening.
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors.
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)
Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items.
Genodermatoses - Opportunities for Early Detection and Cancer Prevention
This review describes the clinical features of the major adult-onset genodermatosis-associated hereditary cancer predisposition syndromes.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2
Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC).
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
SDHA pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours.
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene.
Expert Interview: Genetic Testing for Cancer with Anjana Kulkarni
A cancer diagnosis can feel overwhelming, both for the patient and their loved ones.
Lynch Syndrome Q&A with Jo Stanford & Dr Anju Kulkarni
If you missed our Lynch Syndrome webinar on 14th July 2020 you can catch up here.
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis
Schwannomatosis is a recently delineated inherited condition that has clinical overlap with neurofibromatosis type 2 (NF2).
Cdc7 kinase is a predictor of survival and a novel therapeutic target in epithelial ovarian carcinoma
There is a lack of prognostic and predictive biomarkers in epithelial ovarian carcinoma, and the targeting of oncogenic signaling pathways has had limited impact on patient survival in this highly heterogeneous disease.