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Professor Gareth Evans

Gareth Evans is particularly interested in biomarkers of risk of developing breast cancer.

Professor of Medical Genetics


Regional Genetic Service
St Mary's Hospital
Oxford Road
M13 9WL

Tel: 0161 701 5104

Lab staff

Miriam Smith - Nf2/schwannomatosis
Helen McBurney - Breast cancer association studies
Barbara Bulman - Laboratory/clinical assistant
Lorraine Darmody - Clinical trials assistant
Sarah Ingham - Genetic Epidemiologist
Louise Donnelly – Psychologist

Professor Evans has established a national and international reputation in clinical and research aspects of cancer genetics, particularly in neurofibromatosis and breast cancer. He has developed a clinical service for cancer genetics in the North West Region of England, which is nationally regarded. He is an important opinion leader nationally through membership of committees and was chairman of the NICE Familial Breast Cancer Guideline Development Group (2002-2010) and is now clinical lead (2011-). He lectures throughout the UK and internationally on hereditary breast cancer and cancer syndromes. He has given plenary lectures at many international meetings including the International Congress of Human Genetics and two invited lecture tours across Australia (1995, 2001). He has developed a national training program for clinicians, nurses and genetic counsellors in breast cancer genetics and established a system for risk assessment and counselling for breast cancer in Calman breast units implemented through a training course (1998-2011).

He has published 648 peer reviewed research publications; 244 as first or senior author. He has published over 100 reviews and chapters and has had a book published by Oxford University Press on familial cancer. He has an ISI web of knowledge H-index of 88 and a google scholar H-index of 118 having only published his first article in 1990. In the last 5 years he has raised over £35 million in grants for multicentre and local studies – approximately £31 million to Manchester. He is Chief Investigator on two (£1.59 & £1 million) NIHR program grant (2009-2014 and 2016-2020) on breast cancer risk prediction and also has an NIHR RfPB grant as CI (2011). He has led a successful bid for a Nationally funded NF2 service (£7.5 million pa) that started in 2010 and is involved in the national complex NF1 service. He is theme lead and cancer lead on the All Manchester NIHR Biomedical Research Centre worth £28.5 Million (2016-2020).

Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores.

Evans, D., Woodward, E. R., Howell, S. J., Verhoef, S., Howell, A. & Lalloo, F.

Familial Cancer. 2016


Breast cancer risk feedback to women in the UK NHS breast screening population


Evans, D. G. R., Donnelly, L. S., Harkness, E. F., Astley, S. M., Stavrinos, P., Dawe, S., Watterson, D., Fox, L., Sergeant, J. C., Ingham, S., Harvie, M. N., Wilson, M., Beetles, U., Buchan, I., Brentnall, A. R., French, D. P., Cuzick, J. & Howell, A.

British Journal of Cancer. 114, 9, p. 1045-52 8 p. 2016.


Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality


Evans, G., Harkness, E., Howell, A., Wilson, M., Hurley, E., Holmen, M. M., Tharmaratnam, K. U., Hagen, A. I., Lim, Y., Maxwell, A. & Moller, P.

Hereditary cancer in clinical practice. 14, 8. 2016


MRI Screening in Women With a Personal History of Breast cancer


Evans, G. & Maxwell, A.

Journal of the National Cancer Institute. 108, 3, djv373. 2016


No strong evidence for increased risk of breast cancer 8-26 years after multiple mammograms in their 30s in females at moderate and high familial risk.


Evans, D. G., Kotre, C. J., Harkness, E., Wilson, M., Maxwell, A. J. & Howell, A.

British Journal of Radiology. 89, 1059. 2016


Low prevalence of HER2 positivity amongst BRCA1 and BRCA2 mutation carriers and in primary BRCA screens


Evans, G., Lalloo, F., Howell, S., Verhoef, S., Woodward, E. R. & Howell, A.

Breast Cancer Research and Treatment. 155, 3, p. 597-601 5 p. 2016


Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations?


Evans, G., Clancy, T., Hill, J. & Tischkowitz, M.

Clinical Genetics. 89, 3, p. 399. 2016


Attitudes to contralateral risk reducing mastectomy among breast and plastic surgeons in England.


Basu, N. N., Littlechild, S., Barr, L., Ross, G. L. & Evans, D. G.

Annals of the Royal College of Surgeons of England. 2016


The impact of a panel of 18 single nucleotide polymorphisms on breast cancer risk in women attending a UK familial-screening clinic: A case-control study


Evans, D., Brentnall, A. R., Byers, H., Harkness, E., Stavrinos, P., Howell, A., Newman, W. & Cuzick, J.

Journal of Medical Genetics. 2016


Can the breast screening appointment be used to provide risk assessment and prevention advice?


Evans DG, Howell A.

Breast Cancer Res. 2015 Jul 9;17:84. doi: 10.1186/s13058-015-0595-y.


Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study.


Harkness EF, Barrow E, Newton K, Green K, Clancy T, Lalloo F, Hill J, Evans DG.

J Med Genet. 2015 Aug;52(8):553-6. doi: 10.1136/jmedgenet-2015-103216.


Gene-panel sequencing and the prediction of breast-cancer risk.


Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD.

N Engl J Med. 2015 Jun 4;372(23):2243-57. doi: 10.1056/NEJMsr1501341.


Can diet and lifestyle prevent breast cancer: what is the evidence?


Harvie M, Howell A, Evans DG.

Am Soc Clin Oncol Educ Book. 2015;35:e66-73. doi: 10.14694/EdBook_AM.2015.35.e66.


An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.


Blein S et al.

Breast Cancer Res. 2015 Apr 25;17:61. doi: 10.1186/s13058-015-0567-2.


Common germline polymorphisms associated with breast cancer-specific survival.


Pirie A et al.

Breast Cancer Res. 2015 Apr 22;17:58. doi: 10.1186/s13058-015-0570-7.


General Practitioners and Breast Surgeons in France, Germany, Netherlands and the UK show variable breast cancer risk communication profiles.


Julian-Reynier C, Bouhnik AD, Evans DG, Harris H, van Asperen CJ, Tibben A, Schmidtke J, Nippert I.

BMC Cancer. 2015 Apr 9;15:243. doi: 10.1186/s12885-015-1281-2.


Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.


Rebbeck TR et al.

JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985.


Beliefs about weight and breast cancer: an interview study with high risk women following a 12 month weight loss intervention.


Wright CE, Harvie M, Howell A, Evans DG, Hulbert-Williams N, Donnelly LS.

Hered Cancer Clin Pract. 2015 Jan 9;13(1):1. doi: 10.1186/s13053-014-0023-9.


Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.


Peterlongo P, et al.

Cancer Epidemiol Biomarkers Prev. 2015 Jan;24(1):308-16. doi: 10.1158/1055-9965.EPI-14-0532.


A clinical and genetic analysis of multiple primary cancer referrals to genetics services.


Whitworth J, Hoffman J, Chapman C, Ong KR, Lalloo F, Evans DG, Maher ER.

Eur J Hum Genet. 2015 May;23(5):581-7. doi: 10.1038/ejhg.2014.157.




The Breast Cancer Risk and Detection Group is particularly interested in biomarkers which indicate the risk of developing breast cancer. Work with colleagues in the Manchester Breast Centre, especially Professor Anthony Howell in the Breast Cancer Prevention Group, led to the development of Family History and Prevention Clinics (FHC clinics), where over 8,000 women are followed.

The group has two main aims: improving current methods of risk prediction and developing new methods for risk determination. Current methods of risk prediction integrate risks associated with a family history of breast cancer and other well-known “endocrine” risk factors such as age of first pregnancy and menopausal status. Risk prediction programmes include one or both groups of factors. Evaluation of four of these programmes in 1,933 women from the FHC found that a newer system (devised by Tyrer and Cuzick) performed best and, with optimisation, would warrant general use in the clinic.

One approach the group is evaluating to improve current risk calculation methods is the addition of further risk factors, such as mammographic density and weight. New methods of visualising mammogram images, such as computer-aided detection, are also evaluated. This technique may be particularly appropriate in assessing mammograms from younger women which tend to have a higher mammographic density. The group participates in trials to assess the value of Magnetic Resonance Imaging (MRI) and mammography in women at increased risk of developing breast cancer. Assessment of preliminary screening results suggests MRI may be beneficial in this setting.

The development of new approaches to risk prediction include the assessment of the link between environmental triggers and cancer development in BRCA1/2 families. BRCA 1 and 2 are a pair of genes known to be involved in breast cancer. BRCA1 (breast cancer 1, early onset) and BRCA2 (breast cancer 2 susceptibility protein) are both tumour suppressor genes, mutations in which are associated with an increased risk of developing breast and other cancers. In the normal state, they regulate cell division and are involved in the repair of damaged DNA to maintain genomic integrity and prevent the uncontrolled proliferation characteristic of cancer. The Breast Cancer Risk and Detection Group has access to over 800 BRCA1/2 families and 1,800 carriers of BRCA1/2 mutations, which provides a valuable research resource to study the role of these genes in cancer. Working with national and international collaborators, methods have been devised for improving prediction of risk associated with BRCA1/2 mutations and attempts are made to discover new risk associated genes. The incorporation of breast density and other factors into risk algorithms formed the core of a successful £1.59 million grant from the National Institute for Health Research (NIHR).

The Group is also carrying out testing of more than 18 validated risk Single Nucleotide Polymorphisms (SNPs) in BRCA carriers; those with a family history and also in the general population. Thus far >6000 women have been tested and the results have been incorporated into risk estimation.

Smith SA, Easton DF, Evans DGR, Ponder BAJ. Allele losses in the region 17q12-21 in familial ovarian cancer non-randomly involve the wild type chromosome. Nature Genetics 1992;2:128-31.

Birch JM, Hartley A, Santibanez-Koref MF, Tricker KJ, Prosser J, Kelsey AM, Harris M, Morris-Jones PH, Crowther D, Craft AW, Eden OB, Evans DGR, Thompson E, Mann J, Martin J. Prevalence and diversity of constitutional muatations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 1994;54: 1298-1304.

Steichen-Gersdorf E, Gallion HH, Ford D, Girodet C, Easton D, DiCiocci RA, Evans G, Ponder MA, Pye C, Mazoyer S, Sobol H, Hardouin A, Bignon Y-J, Piver MS, Smith SA, Ponder BAJ. Familial site specific ovarian cancer is linked to BRCA1 on 17q12-21. Am J Hum Genet 1994; 55: 870-5.

Gayther SA, Mazoyer S, Warren W, Russell PA, Harrington PA, Chiano M, Seal S, Hamoudi R, van Rensburg EJ, Dunning AM, Love R, Evans DGR, Easton D, Clayton D, Stratton MR, Ponder BAJ. Germline mutations of the BRCA1 gene in families: evidence for a genotype/phenotype correlation. Nature Genet 1995; 11; 428-433.

Evans DGR, Kerr B, Cade D, Hoare E, P Hopwood. Fictitious breast cancer family history. Lancet 1996; 348: 979.

Narod SA, Risch H, Moslehi R, Neuheusen S, Moller P, Olsson H, Provencher D, Radice P, Evans G, Bishop S, Brunet J-S, Easton D. Oral contraceptive use reduces the risk of hereditary ovarian cancer. N Engl J Med 1998; 339: 424-8.

Birch JM, Blair V, Kelsey A, Evans DGR, Harris M, Tricker K, Varley JM. Cancer phenotype correlates with constitutional TP53 genotype in families with Li-Fraumeni syndrome. Oncogene 1998; 17: 1061-8.

Roberts SA, Spreadborough AR, Bulman B, Barber JBP, Evans DGR, Scott D. Heritability of cellular radiosensitivity: a marker of low penetrance predisposition genes in breast cancer. Am J Hum Genet 1999; 65: 784-94.

Farndon P, Delmastro RG, Evans DGR, Kilpatrick MW. Localisation of the gene for Gorlin (Naevoid basal cell carcinoma) syndrome on chromosome 9. Lancet 1992; i: 581-2.

Stratton J, Thompson D, Bobrow L, Dalal N, Gore M, Bishop DT, Scott I, Evans G, Daly P, Easton D, Ponder BAJ. A population based study of early onset ovarian cancer. Am J Hum Genet 1999: 65: 1725-32.