References

Alberg AJ, Lam AP, Helzlsouer KJ. Epidemiology, prevention, and early detection of breast cancer. Curr Opin Oncol. 1999; 11:(6)435-441 https://doi.org/10.1097/00001622-199911000-00003

Antoniou A, Pharoah PDP, Narod S Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003; 72:(5)1117-1130 https://doi.org/10.1086/375033

Ardern-Jones A, Kenen R, Eeles R. Too much, too soon? Patients and health professionals' views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40. Eur J Cancer Care (Engl). 2005; 14:(3)272-281 https://doi.org/10.1111/j.1365-2354.2005.00574.x

Beitsch PD, Whitworth PW, Hughes K Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle?. J Clin Oncol. 2019; 37:(6)453-460 https://doi.org/10.1200/JCO.18.01631

Bianchini G, Balko JM, Mayer IA, Sanders ME, Gianni L. Triple-negative breast cancer: challenges and opportunities of a heterogeneous disease. Nat Rev Clin Oncol. 2016; 13:(11)674-690 https://doi.org/10.1038/nrclinonc.2016.66

Brody LC, Biesecker BB. Breast cancer susceptibility genes. BRCA1 and BRCA2. Medicine (Baltimore). 1998; 77:(3)208-226 https://doi.org/10.1097/00005792-199805000-00006

Chen S, Iversen ES, Friebel T Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol. 2006; 24:(6)863-871 https://doi.org/10.1200/JCO.2005.03.6772

Collignon J, Lousberg L, Schroeder H, Jerusalem G. Triple-negative breast cancer: treatment challenges and solutions. Breast Cancer (Dove Med Press). 2016; 8:93-107 https://doi.org/10.2147/BCTT.S69488

Colombo N, Huang G, Scambia G Evaluation of a streamlined oncologist-led BRCA mutation testing and counseling model for patients with ovarian cancer. J Clin Oncol. 2018; 36:(13)1300-1307 https://doi.org/10.1200/JCO.2017.76.2781

Eccles DM, Pichert G. Familial non-BRCA1/BRCA2-associated breast cancer. Lancet Oncol. 2005; 6:(9)705-711 https://doi.org/10.1016/S1470-2045(05)70318-1

Evans DG, Howell A, Ward D, Lalloo F, Jones JL, Eccles DM. Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer. J Med Genet. 2011; 48:(8)520-522 https://doi.org/10.1136/jmedgenet-2011-100006

Evans DG, Harkness EF, Plaskocinska I Pathology update to the Manchester Scoring System based on testing in over 4000 families. J Med Genet. 2017; 54:(10)674-681 https://doi.org/10.1136/jmedgenet-2017-104584

George A, Riddell D, Seal S Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. Sci Rep. 2016; 6:(1) https://doi.org/10.1038/srep29506

Greenup R, Buchanan A, Lorizio W Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort. Ann Surg Oncol. 2013; 20:(10)3254-3258 https://doi.org/10.1245/s10434-013-3205-1

Grindedal EM, Heramb C, Karsrud I Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. BMC Cancer. 2017; 17:(1) https://doi.org/10.1186/s12885-017-3422-2

Hall J, Lee M, Newman B Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990; 250:(4988)1684-1689 https://doi.org/10.1126/science.2270482

2020 SEER cancer statistics review, 1975–2017. https://seer.cancer.gov/csr/1975_2017 (accessed 30 April 2020)

Jacobs C, Patch C, Michie S. Communication about genetic testing with breast and ovarian cancer patients: a scoping review. Eur J Hum Genet. 2019; 27:(4)511-524 https://doi.org/10.1038/s41431-018-0310-4

Kemp Z, Turnbull A, Yost S Evaluation of cancer-based criteria for use in mainstream BRCA1 and BRCA2 genetic testing in patients with breast cancer. JAMA Netw Open. 2019; 2:(5) https://doi.org/10.1001/jamanetworkopen.2019.4428

Kuchenbaecker KB, Hopper JL, Barnes DR Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017; 317:(23)2402-2416 https://doi.org/ 10.1001/jama.2017.7112

Kwon JS, Daniels MS, Sun CC, Lu KH. Preventing future cancers by testing women with ovarian cancer for BRCA mutations. J Clin Oncol. 2010; 28:(4)675-682 https://doi.org/10.1200/JCO.2008.21.4684

Lewis R, Hendry M. A review comparing the effectiveness of nurse-led follow up for cancer with conventional care. Nurs Times. 2009; 105:(37)25-27

MacInnis RJ, Bickerstaffe A, Apicella C Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre. Br J Cancer. 2013; 109:(5)1296-1301 https://doi.org/10.1038/bjc.2013.382

Manahan ER, Kuerer HM, Sebastian M Consensus guidelines on genetic’ testing for hereditary breast cancer from the American Society of Breast Surgeons. Ann Surg Oncol. 2019; 26:(10)3025-3031 https://doi.org/10.1245/s10434-019-07549-8

Manoj S, Moore Z, Patton D, O'Connor T, Nugent LE. The impact of a nurse-led elective direct current cardioversion in atrial fibrillation on patient outcomes: a systematic review. J Clin Nurs. 2019; 28:(19–20)3374-3385 https://doi.org/10.1111/jocn.14852

Mersch J, Jackson MA, Park M Cancers associated with BRCA 1 and BRCA 2 mutations other than breast and ovarian. Cancer. 2015; 121:(2)269-275 https://doi.org/10.1002/cncr.29041

Miki Y, Swensen J, Shattuck-Eidens D A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994; 266:(5182)66-71 https://doi.org/10.1126/science.7545954

NHS England. National genomic test directory testing criteria for rare and inherited disease. 2019. https://www.england.nhs.uk/publication/national-genomic-test-directories (accessed 30 April 2020)

National Institute for Health and Care Excellence. Recommendations. 2019. https://tinyurl.com/ycys2sbe (accessed 30 April)

O'Toole J, Ingram S, Kelly N, Quirke MB, Roberts A, O'Brien F. Satisfaction with innovative nurse practitioner cardiology services'. J Nurse Pract. 2019; 15:(4)311-315.e1 https://doi.org/10.1016/J.NURPRA.2018.12.013

Percival N, George A, Gyertson J The integration of BRCA testing into oncology clinics. Br J Nurs. 2016; 25:(12)690-694 https://doi.org/10.12968/bjon.2016.25.12.690

Robertson L, Hanson H, Seal S BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. Br J Cancer. 2012; 106:(6)1234-1238 https://doi.org/10.1038/bjc.2012.31

Royal Marsden NHS Foundation Trust. A beginner's guide to BRCA1 and BRCA2. 2019. https://tinyurl.com/y2lo52on (accessed 30 April 2020)

Schwartz MD, Peshkin BN, Isaacs CR Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients. Breast Cancer Res Treat. 2018; 170:(3)517-524 https://doi.org/10.1007/s10549-018-4773-3

Sharples LD, Edmunds J, Bilton D A randomised controlled crossover trial of nurse practitioner versus doctor led outpatient care in a bronchiectasis clinic. Thorax. 2002; 57:(8)661-666 https://doi.org/10.1136/thorax.57.8.661

Slade I, Hanson H, George A A cost analysis of a cancer genetic service model in the UK. J Community Genet. 2016; 7:(3)185-194 https://doi.org/10.1007/s12687-016-0266-4

Sun L, Brentnall A, Patel S A cost-effectiveness analysis of multigene testing for all patients with breast cancer. JAMA Oncol. 2019; 5:(12)1718-1730 https://doi.org/10.1001/jamaoncol.2019.3323

van Egdom LSE, de Kock MA, Apon I Patient-reported outcome measures may optimize shared decision-making for cancer risk management in BRCA mutation carriers. 2020; 27:(3)426-434 https://doi.org/10.1007/s12282-019-01033-7

Wang YA, Jian JW, Hung CF Germline breast cancer susceptibility gene mutations and breast cancer outcomes. BMC Cancer. 2018; 18:(1) https://doi.org/10.1186/s12885-018-4229-5

Wells-Federman C, Arnstein P, Caudill M. Nurse-led pain management program: effect on self-efficacy, pain intensity, pain-related disability, and depressive symptoms in chronic pain patients. Pain Manag Nurs. 2002; 3:(4)131-140 https://doi.org/10.1053/jpmn.2002.127178

Wooster R, Bignell G, Lancaster J Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995; 378:(6559)789-792 https://doi.org/10.1038/378789a0

Wright S, Porteous M, Stirling D Patients' views of treatment-focused genetic testing (TFGT): some lessons for the mainstreaming of BRCA1 and BRCA2 testing. J Genet Couns. 2018; 27:(6)1459-1472 https://doi.org/10.1007/s10897-018-0261-5

Zhang J, Powell SN. The role of the BRCA1 tumor suppressor in DNA double-strand break repair. Mol Cancer Res. 2005; 3:(10)531-539 https://doi.org/10.1158/1541-7786.MCR-05-0192

Changing practice: moving to a specialist nurse-led service for BRCA gene testing

28 May 2020
Volume 29 · Issue 10

Abstract

Some 5–10% of all breast cancers are associated with a pathogenic variant in a breast cancer-associated gene (BRCA1/BRCA2). Historically, with referral to the Nottingham University Hospitals NHS Trust's clinical genetics department for genetic testing, waiting times were on average 12–14 weeks for an initial appointment and 4–6 months to obtain results from the date of testing. A specialist, nurse-led mainstreaming cancer genetics (MCG) service was set up in the trust's Nottingham Breast Institute (NBI) to: reduce waiting times for the initial consultation, counselling, consent and obtaining results for BRCA1/BRCA2 gene testing; and to ensure appropriate patients with breast cancer were offered genetic testing. Two breast clinical nurse specialists were trained so they could counsel, consent and give results for the BRCA1/BRCA2 gene testing directly to patients. Average waiting times for results from the time of testing were reduced to 35.8 days under the nurse-led service, which enabled oncologists and patients to consider individual treatment options at an earlier time. The MCG service reduced waiting times, resulting in an improved, more streamlined service for patients undergoing genetic testing. The MCG service extended the scope of practice of the breast nurse clinical specialists, embedded an expert advanced nursing role in the breast multidisciplinary team and developed nurse mentoring opportunities.

While 90% of breast cancers occur as a result of an accumulation of somatic genetic changes, approximately 5–10% are believed to originate from inherited germline genetic variations. These cancers are most likely to be pathogenic variants in tumour suppressor genes such as the breast cancer susceptibility genes BRCA1 and BRCA2 (Brody and Biesecker, 1998; Alberg et al, 1999; Eccles and Pichert, 2005; Zhang and Powell, 2005). BRCA1 was mapped on chromosome 17 in 1990 (Hall et al, 1990) and subsequently cloned in 1994 (Miki et al, 1994) and BRCA2 was mapped on chromosome 13 in 1995 (Wooster et al, 1995).

Pathogenic variants in other genes, including ATM, BARD1, BRIP1, CDH1, CHEK2, MRE11A, MSH6, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, STK11 and TP53 are now also known to increase the risk of breast cancer, but research continues into the penetrance and overall risks associated with these genetic variants (Wang et al, 2018).

Register now to continue reading

Thank you for visiting British Journal of Nursing and reading some of our peer-reviewed resources for nurses. To read more, please register today. You’ll enjoy the following great benefits:

What's included

  • Limited access to clinical or professional articles

  • Unlimited access to the latest news, blogs and video content