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Carole Brewer

Royal Devon and Exeter Hospital

70

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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

2021 Journal of the National Cancer Institute
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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

2021 American Journal of Medical Genetics Part A
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

2021 Genetics in Medicine
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A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

2021 Lancet Oncology
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Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.

2021 American Journal of Medical Genetics Part A
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Erratum: Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers (Breast cancer research : BCR (2020) 22 1 (8))

2020 Breast Cancer Research
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Erratum: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: An international prospective cohort of BRCA1 and BRCA2 mutation carriers (Breast Cancer Res (2020) 22 (8) DOI: 10.1186/s13058-020-1247-4)

2020 Breast Cancer Research
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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.

2020 Genetics in Medicine
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Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial

2020 The Lancet
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Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.

2020
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