Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include BRCA gene mutations in cancer, Genetic factors in colorectal cancer, Genomic variations and chromosomal abnormalities, and Breast Cancer Treatment Studies.
Head and Neck Cancer: United Kingdom National Multidisciplinary Guidelines, Sixth Edition
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
Cancer risk and survival in <i>path_MMR</i> carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers
Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study