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British Journal of Cancer|June 4, 2024
Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practiceOlga Tsoulaki, Marc Tischkowitz, Antonis C Antoniou, et al.European Journal of Human Genetics : EJHG|March 5, 2024
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancerTrudi McDevitt, Miranda Durkie, Norbert Arnold, et al.Cancer Research|October 19, 2006
RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2BAaron N Cranston, Cristiana Carniti, Kim Oakhill, et al.Cancer Research|February 3, 2006
Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriersGillian Mitchell, Antonis C Antoniou, Ruth Warren, et al.Journal of Medical Genetics|March 31, 2026
The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predispositionOluwatosin O Taiwo, Paola Angelini, Iman Awadh, et al.Journal of Medical Genetics|February 11, 2021
Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative studyFaiza Gaba, Shivam Goyal, Dalya Marks, et al.The Journal of Clinical Endocrinology and Metabolism|July 17, 2008
Large genomic deletions in AIP in pituitary adenoma predispositionMarianthi Georgitsi, Elina Heliövaara, Ralf Paschke, et al.American Journal of Medical Genetics. Part A|August 31, 2010
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new casesSahar Mansour, Fiona Connell, Colin Steward, et al.Oncogene|April 11, 2003
Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial casesPäivi Laiho, Tuija Hienonen, Auli Karhu, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 25, 2023
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Helen Hanson, Esteban Astiazaran-Symonds, Laura M Amendola, et al.Pageof 15