Search Results - "Munaza Ahmed"
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The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2
Published in Journal of medical genetics (01-05-2023)“…Our study aimed to establish 'real-world' performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline variants who…”
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ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
Published in Nature genetics (01-08-2006)“…We screened individuals from 443 familial breast cancer pedigrees and 521 controls for ATM sequence variants and identified 12 mutations in affected…”
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Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
Published in Nature genetics (01-11-2006)“…We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2…”
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Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study
Published in BJOG : an international journal of obstetrics and gynaecology (01-05-2024)“…Objective To evaluate patient preference for short (gist) or detailed/extensive decision aids (DA) for genetic testing at ovarian cancer (OC) diagnosis. Design…”
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UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C , RAD51D , BRIP1 and PALB2
Published in Journal of medical genetics (01-05-2023)“…Germline pathogenic variants (GPVs) in the cancer predisposition genes , , , , , , , and are identified in approximately 15% of patients with ovarian cancer…”
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Decision making for health‐related research outcomes that alter diagnosis: A model from paediatric brain tumours
Published in Neuropathology and applied neurobiology (01-08-2024)“…Aims The question of how to handle clinically actionable outcomes from retrospective research studies is poorly explored. In neuropathology, this problem is…”
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Population Study of Ovarian Cancer Risk Prediction for Targeted Screening and Prevention
Published in Cancers (15-05-2020)“…Unselected population-based personalised ovarian cancer (OC) risk assessment combining genetic/epidemiology/hormonal data has not previously been undertaken…”
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Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study
Published in Cancers (27-08-2021)“…We present findings of a cancer multidisciplinary-team (MDT) coordinated mainstreaming pathway of unselected 5-panel germline BRCA1/BRCA2/RAD51C/RAD51D/BRIP1…”
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Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication
Published in British journal of cancer (04-02-2020)“…The National Institute of health and Care Excellence issued guidelines on familial breast cancer screening in 2004. Such guidelines should be uniformly…”
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Unselected Population Genetic Testing for Personalised Ovarian Cancer Risk Prediction: A Qualitative Study Using Semi-Structured Interviews
Published in Diagnostics (Basel) (19-04-2022)“…Unselected population-based personalised ovarian cancer (OC) risk assessments combining genetic, epidemiological and hormonal data have not previously been…”
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Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL 4 and USB 1 (C16orf57) gene
Published in Molecular genetics & genomic medicine (01-05-2016)“…Abstract Background Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation,…”
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Prostate Cancer Risks for Male BRCA1▪ and BRCA2 Mutation Carriers: A Prospective Cohort Study
Published in European urology (01-01-2020)“…BRCA1 and BRCA2 mutations have been associated with prostate cancer (PCa) risk but a wide range of risk estimates have been reported that are based on…”
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Benefits for children with suspected cancer from routine whole-genome sequencing
Published in Nature medicine (01-07-2024)“…Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to children with cancer and to alter treatment in high-risk patient groups…”
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Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
Published in European journal of human genetics : EJHG (01-11-2023)“…BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene. Germline BAP1 pathogenic/likely pathogenic variants are associated with…”
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Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study
Published in Journal of medical genetics (01-02-2022)“…Acceptance of the role of the fallopian tube in 'ovarian' carcinogenesis and the detrimental sequelae of surgical menopause in premenopausal women following…”
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Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer
Published in Journal of the National Comprehensive Cancer Network (18-04-2024)“…Parallel panel germline and somatic genetic testing of all patients with ovarian cancer (OC) can identify more pathogenic variants (PVs) that would benefit…”
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Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
Published in Familial cancer (01-10-2021)“…DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging…”
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Prostate Cancer Risk by BRCA2 Genomic Regions
Published in European urology (01-10-2020)“…A BRCA2 prostate cancer cluster region (PCCR) was recently proposed (c.7914 to 3′) wherein pathogenic variants (PVs) are associated with higher prostate cancer…”
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Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study
Published in American journal of obstetrics and gynecology (01-07-2021)Get full text
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Whole-genome sequencing of patients with rare diseases in a national health system
Published in Nature (London) (02-07-2020)Get full text
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