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Journal of Medical Genetics|March 24, 2021
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancerD Gareth Evans, Elke Maria van Veen, Helen J Byers, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2022
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)Lucy Loong, Alice Garrett, Sophie Allen, et al.Journal of Medical Genetics|April 10, 2019
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA reportAmanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, et al.Journal of Medical Genetics|October 21, 2024
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based studyLucy Loong, Catherine Huntley, Joanna Pethick, et al.Journal of Medical Genetics|November 21, 2022
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2Helen Hanson, Anjana Kulkarni, Lucy Loong, et al.Journal of Medical Genetics|December 12, 2018
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlationIan M Frayling, Victor-Felix Mautner, Rick van Minkelen, et al.Journal of Medical Genetics|March 15, 2020
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary networkAlice Garrett, Alison Callaway, Miranda Durkie, et al.Breast (Edinburgh, Scotland)|October 3, 2018
The presentation, management and outcome of inflammatory breast cancer cases in the UK: Data from a multi-centre retrospective reviewE Copson, A M Shaaban, T Maishman, et al.Genome Research|July 7, 2005
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general populationKhalid K Alharbi, Mohammed A Aldahmesh, Emmanuel Spanakis, et al.Journal of the National Cancer Institute|March 6, 2018
The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation CarriersBritta Weigelt, Rui Bi, Rahul Kumar, et al.Pageof 30