University of Exeter Medical School

Dr. Helen Hanson

Dr. Helen Hanson

NIHR Senior Investigator Fellow

 H.Hanson@exeter.ac.uk

 RILD Building 

 

University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK

Overview

Dr Helen Hanson holds an NIHR Senior Investigator Fellowship at the Exeter NIHR Biomedical Research Centre and is a Consultant in Cancer Genetics at the Peninsula Regional Genetics Service at the Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.

Helen qualified in medicine in 2002 from Guy’s, Kings and St Thomas’ Medical School, London. She completed her Clinical Genetics Training at St. George’s Hospital and Guy’s Hospital and has previously been a Consultant at the Royal Marsden and St. George’s Hospital in London, before taking up her current post in September 2023. Helen was awarded an MD (Res) in 2011 for her thesis “Characterisation of the prevalence, penetrance and phenotype of constitutional TP53 mutations in breast cancer” undertaken at The Institute of Cancer Research, London and has a continued interest in TP53 and Li-Fraumeni syndrome.

Helen’s main research interest is improving the clinical care of individuals with rare inherited genetic predisposition to cancer. She has colloborated nationally and internationally in the development and implementation of clinical guidelines.

Qualifications

  • BSc Hons (Molecular Medicine and Genetics, King’s College, London)
  • MBBS (Guy’s, King’s and St Thomas’ Medical School, London)
  • FRCP (Royal College of Physicians, London)
  • MD (Res) (Institute of Cancer Research, London)
  • Specialist register (CCT) Clinical Genetics

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Research

Research interests

Helen's work focuses on how to improve clinical care for patients with an inherited predispoition to cancer, bringing together national and international experts and patients to colloboratively develop best practice guidelines to address the gap between gene discovery and clinical care. Through her BRC role, she will continue and expand work from the CanGene-CanVar project, a 5-year £4.3 million Cancer Research UK catalyst award-funded programme (https://www.cangene-canvaruk.org).

Research projects

Helen is  a co-investigator on the “CanGene-CanVar” a 5-year Cancer Research UK catalyst award-funded programme. She leads work in Work Package 3 of the programme focusing on translation and implementation of Clinical Guidelines https://www.cangene-canvaruk.org

Helen is currently also working with NDRS (National Disease Registration Service), clinical collegues and NHS England to develop a National Inherited Cancer Predisposition Register.The register will allow better understanding of the number of patients in England who have an inherited predisposition to cancer, providing an opportunity to improve clinical care and to study in greater detail cancer incidence, survival and the impact of risk reducing or early detection interventions by linkage to other national datasets

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Publications

Journal articles

Dixon-Zegeye M, Shaw R, Collins L, Perez-Smith K, Ooms A, Qiao M, Pantziarka P, Izatt L, Tischkowitz M, Harrison RE, et al (2024). Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol. Trials, 25(1). Abstract.  Author URL.
McVeigh TP, Lalloo F, Frayling IM, Latchford A, Snape K, Durkie M, Monahan KJ, Hanson H (2024). Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes:<i>APC</i>c.3920T&gt;A p.(Ile1307Lys) as an exemplar. Journal of Medical Genetics
Kohut K, Speight B, Young J, Way R, Wiggins J, Monje-Garcia L, Eccles DM, Foster C, Turner L, Snape K, et al (2024). Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC). J Med Genet, 61(2), 142-149. Abstract.  Author URL.
McDevitt T, Durkie M, Arnold N, Burghel GJ, Butler S, Claes KBM, Logan P, Robinson R, Sheils K, Wolstenholme N, et al (2024). EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. Eur J Hum Genet, 32(5), 479-488. Abstract.  Author URL.
McVeigh TP, Monahan KJ, Christopher J, West N, Scott M, Murray J, Hanson H, UKCGG dMMR Consensus Meeting Attendees (2024). Extent of investigation and management of cases of 'unexplained' mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus. J Med Genet Abstract.  Author URL.
Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, Callaway A, Robinson R, Burghel GJ, Hanson H, et al (2024). Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. J Med Genet, 61(4), 305-312. Abstract.  Author URL.
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, et al (2024). Response to Stern. Genet Med, 26(2).  Author URL.
Kohut K, Morton K, Hurley K, Turner L, CanGene-CanVar Patient Reference Panel, Dale C, Eastbrook S, Gold R, Henwood K, Patton S, et al (2023). 'A good decision is the one that feels right for me': Codesign with patients to inform theoretical underpinning of a decision aid website. Health Expect, 27(1). Abstract.  Author URL.
Lalloo F, Kulkarni A, Chau C, Nielsen M, Sheaff M, Steele J, van Doorn R, Wadt K, Hamill M, Torr B, et al (2023). Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome. European Journal of Human Genetics, 31(11), 1261-1269. Abstract.
Christensen RE, Yi MD, Kang BY, Ibrahim SA, Anvery N, Dirr M, Adams S, Amer YS, Bisdorff A, Bradfield L, et al (2023). Development of an international glossary for clinical guidelines collaboration. JOURNAL OF CLINICAL EPIDEMIOLOGY, 158, 84-91.  Author URL.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, et al (2023). Genotype-first approach to identify associations between <i>CDH1</i> germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. LANCET ONCOLOGY, 24(1), 91-106.  Author URL.
Speight B, Hanson H, Turnbull C, Hardy S, Drummond J, Khorashad J, Wragg C, Page PW, Parkin N, Rio-Machin A, et al (2023). Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group. BRITISH JOURNAL OF HAEMATOLOGY, 201(1), 25-34.  Author URL.
Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, et al (2023). Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations. Ann Oncol, 34(3), 215-227. Abstract.  Author URL.
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, et al (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). Genet Med, 25(10). Abstract.  Author URL.
Muranen T, Morra A, Khan SR, Barnes DK, Bolla M, Dennis J, Keeman R, Leslie GT, Parsons M, Wang QU, et al (2023). PREDICT validity for prognosis of breast cancer patients with pathogenic <i>BRCA1/2</i> variants. NPJ BREAST CANCER, 9(1).  Author URL.
Lincoln AG, Benton SC, Piggott C, Sheikh SR, Beggs AD, Buckley L, DeSouza B, East JE, Sanders P, Lim M, et al (2023). Risk-stratified faecal immunochemical testing (FIT) for urgent colonoscopy in Lynch syndrome during the COVID-19 pandemic. BJS Open, 7(5). Abstract.  Author URL.
Philpott S, Raikou M, Manchanda R, Lockley M, Singh N, Scott M, Evans DG, Adlard J, Ahmed M, Edmondson R, et al (2023). The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in <i>BRCA1</i> and <i>BRCA2</i>. JOURNAL OF MEDICAL GENETICS, 60(5), 440-449.  Author URL.
Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, et al (2023). UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2. J Med Genet, 60(5), 417-429. Abstract.  Author URL.
Hanson H, Durkie M, Lalloo F, Izatt L, McVeigh TP, Cook JA, Brewer C, Drummond J, Butler S, Cranston T, et al (2023). UK recommendations for SDHA germline genetic testing and surveillance in clinical practice. J Med Genet, 60(2), 107-111. Abstract.  Author URL.
Huntley C, Torr B, Sud A, Rowlands CF, Way R, Snape K, Hanson H, Swanton C, Broggio J, Lucassen A, et al (2023). Utility of polygenic risk scores in UK cancer screening: a modelling analysis. LANCET ONCOLOGY, 24(6), 658-668.  Author URL.
Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, et al (2022). Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes. Ann Oncol, 33(12), 1318-1327. Abstract.  Author URL.
Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, et al (2022). Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst, 114(1), 109-122. Abstract.  Author URL.
Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, Nielsen HR, Lee A, Yang X, McGuffog L, et al (2022). Cancer Risks Associated with <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants. JOURNAL OF CLINICAL ONCOLOGY, 40(14), 1529-+.  Author URL.
Maher ER, Adlard J, Barwell J, Brady AF, Brennan P, Cook J, Crawford GS, Dabir T, Davidson R, Dyer R, et al (2022). Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service. Br J Cancer, 126(9), 1339-1345. Abstract.  Author URL.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, et al (2022). Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. Genet Med, 24(3), 552-563. Abstract.  Author URL.
Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, Drummond J, Burghel GJ, Robinson R, Torr B, et al (2022). Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK). Genet Med, 24(9), 1867-1877. Abstract.  Author URL.
Gaba F, Goyal S, Marks D, Chandrasekaran D, Evans O, Robbani S, Tyson C, Legood R, Saridogan E, McCluggage WG, et al (2022). Surgical decision making in premenopausal <i>BRCA</i> carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study. JOURNAL OF MEDICAL GENETICS, 59(2), 122-132.  Author URL.
Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Foncillas JG, Ray-Coquard I, Penault-Llorca F, Foulkes WD, et al (2021). Clinical practice guidelines for <i>BRCA1</i> <i>and BRCA2</i> genetic testing. EUROPEAN JOURNAL OF CANCER, 146, 30-47.  Author URL.
Mandelker D, Donoghue M, Talukdar S, Bandlamudi C, Srinivasan P, Vivek M, Jezdic S, Hanson H, Snape K, Kulkarni A, et al (2021). Erratum to 'Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group': [Annals of Oncology 30 (2019) 1221-1231]. Ann Oncol, 32(8), 1069-1071.  Author URL.
Furness H, Salfity L, Devereux J, Halliday D, Hanson H, Ruddy DM, Shah N, Sultana G, Woodward ER, Sandford RN, et al (2021). Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease. GENES, 12(9).  Author URL.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, et al (2021). Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine, 23(8), 1506-1513. Abstract.
Bakhuizen JJ, Hanson H, van der Tuin K, Lalloo F, Tischkowitz M, Wadt K, Jongmans MCJ (2021). Surveillance recommendations for <i>DICER1</i> pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group. FAMILIAL CANCER, 20(4), 337-348.  Author URL.
Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, et al (2021). The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genetics in Medicine, 23(9), 1726-1737. Abstract.
Wedderburn S, Archer S, Tischkowitz M, Hanson H (2021). Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services. JOURNAL OF MEDICAL GENETICS, 58(8), 579-580.  Author URL.
Forde C, Lim DHK, Alwan Y, Burghel G, Butland L, Cleaver R, Dixit A, Evans DG, Hanson H, Lalloo F, et al (2020). Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals. Eur Urol Oncol, 3(6), 764-772. Abstract.  Author URL.
Hanson H, Brady AF, Crawford G, Eeles RA, Gibson S, Jorgensen M, Izatt L, Sohaib A, Tischkowitz M, Evans DG, et al (2020). UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants. J Med Genet, 58(2), 135-139. Abstract.  Author URL.
Mandelker D, Donoghue M, Talukdar S, Bandlamudi C, Srinivasan P, Vivek M, Jezdic S, Hanson H, Snape K, Kulkarni A, et al (2019). Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group. Ann Oncol, 30(8), 1221-1231. Abstract.  Author URL.
Talukdar S, Hawkes L, Hanson H, Kulkarni A, Brady AF, McMullan DJ, Ahn JW, Woodward E, Turnbull C (2019). Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs). JOURNAL OF MEDICAL GENETICS, 56(11), 718-726.  Author URL.
Taylor A, Brady AF, Frayling IM, Hanson H, Tischkowitz M, Turnbull C, Side L (2018). Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. JOURNAL OF MEDICAL GENETICS, 55(6), 372-377.  Author URL.
Slade I, Hanson H, George A, Kohut K, Strydom A, Wordsworth S, Rahman N, MCG programme (2016). A cost analysis of a cancer genetic service model in the UK. J Community Genet, 7(3), 185-194. Abstract.  Author URL.
George A, Riddell D, Seal S, Talukdar S, Mahamdallie S, Ruark E, Cloke V, Slade I, Kemp Z, Gore M, et al (2016). Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. SCIENTIFIC REPORTS, 6  Author URL.
Slade I, Riddell D, Turnbull C, Hanson H, Rahman N (2015). Development of cancer genetic services in the UK: a national consultation. GENOME MEDICINE, 7  Author URL.
Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, Turnbull C, Houlston R, Shanley S, Butler S, et al (2012). BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. Br J Cancer, 106(6), 1234-1238. Abstract.  Author URL.
Hanson H, Storey H, Pagan J, Flinter F (2011). The Value of Clinical Criteria in Identifying Patients with X-Linked Alport Syndrome. CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 6(1), 198-203.  Author URL.
Wilson JRF, Bateman AC, Hanson H, an Q, Evans G, Rahman N, Jones JL, Eccles DM (2010). A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. J Med Genet, 47(11), 771-774. Abstract.  Author URL.
Hanson H, Hodgson S (2010). Cancer genetics and reproduction. Best Pract Res Clin Obstet Gynaecol, 24(1), 3-18. Abstract.  Author URL.
Subramanian A, Thomasson L, Hanson H, Hodgson S, Simson JNL (2008). The BSG/ACPGBI guidelines for colonoscopic screening: what are we missing?. Colorectal Dis, 10(7), 673-676. Abstract.  Author URL.
Irving M, Hanson H, Turnpenny P, Brewer C, Ogilvie CM, Davies A, Berg J (2003). Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? a report of 15 de novo and familial cases. Am J Med Genet A, 123A(2), 153-163. Abstract.  Author URL.
Hanson H, Mathew CG, Docherty Z, Mackie Ogilvie C (2001). Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach. Cytogenet Cell Genet, 93(3-4), 203-206. Abstract.  Author URL.

Conferences

Loveday C, Garrett A, Law P, Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C (2024). Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancer cases excludes additional high-impact susceptibility genes.  Author URL.
Lalloo F, Kulkarni A, Chau C, Nielsen M, Sheaff M, Steele J, Van Doorn R, Wadt K, Hamill M, Torr B, et al (2024). Clinical practice guidelines for the diagnosis and surveillance of BAP1-tumour predisposition syndrome.  Author URL.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa SP, Pinheiro H, Sousa L, Monteiro AR, et al (2024). Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.  Author URL.
Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Eccles D, Evans G, Snape K, Hanson H, Houlston R, et al (2022). Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancer cases excludes additional high-impact susceptibility genes.  Author URL.
Imbert-Bouteille M, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Foncillas JG, Ray-Coquard I, Penault-Llorca F, Foulkes WD, et al (2022). Clinical practice guidelines for <i>BRCA1</i> and <i>BRCA2</i> genetic testing.  Author URL.
Gaba F, Chandrasekaran D, Menon U, Evans G, Singh N, McCluggage G, Wilkinson N, Ganesan R, Rowlands G, Bryson G, et al (2019). PREVENTING OVARIAN CANCER THROUGH EARLY EXCISION OF TUBES AND LATE OVARIAN REMOVAL (PROTECTOR) STUDY.  Author URL.

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External Engagement and Impact

Committee/panel activities

  • Dr Hanson was Chair of the UK Cancer Genetics Group May 2021-2024  (UK CGG https://www.ukcgg.org/)
  • Committee member -NICE Breast Cancer Expert Faculty
  • Committee member -British Association of Dermatology Skin Genetics Group Sub-Committee
  • Committee member – NHSE Genomics Test Evaluation Working Group – Cancer
  • Committee member CanVIG-UK Steering and Advisory Committee (CStAG) https://www.cangene-canvaruk.org/canvig-uk
  • TMG member for the multicentre, national prospective cohort PROTECTOR study (Preventing ovarian cancer through early excision of tubes and late ovarian removal) PROTECTOR Study - Protector
  • Co-applicant and TMG member for the NIHR funded precision prevention study “Metformin in Li Fraumeni (MILI) Trial: A Phase II Randomised open-label cancer prevention study of Metformin in adults with Li Fraumeni Syndrome” MILI — Department of Oncology (ox.ac.uk)

Media Coverage

Dr Helen Hanson, Kelly Kohut, Rochelle Gold and Amanda Pichini: How… (genomicsengland.co.uk)

 

Dr Helen Hanson, Kelly Kohut, Rochelle Gold and Amanda Pichini: How… (genomicsengland.co.uk)

 

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