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Open Access 01-04-2020 | Breast Cancer | Original Article

Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway

Authors: Eli Marie Grindedal, Kjersti Jørgensen, Pernilla Olsson, Berit Gravdehaug, Hilde Lurås, Ellen Schlichting, Tone Vamre, Teresia Wangensteen, Cecilie Heramb, Lovise Mæhle

Published in: Familial Cancer | Issue 2/2020

Abstract

Studies have shown that a significant number of eligible breast cancer patients are not offered genetic testing or referral to genetic counseling. To increase access to genetic testing in South Eastern Norway, testing has since 2014 been offered directly to breast cancer patients by surgeons and oncologists. This practice is termed “mainstreamed genetic testing”. The aim of this study was to investigate to what extent patients in South Eastern Norway are offered testing. Three hundred and sixty one patients diagnosed in 2016 and 2017 at one regional and one university hospital in South Eastern Norway were included. Data on whether the patients fulfilled the criteria, whether they had been offered testing and if they were tested were collected. In total, 26.6% (96/361) fulfilled the criteria for testing. Seventy five percent (69/92) of these were offered testing, and 71.7% (66/92) were tested. At the university hospital, 90.2% (37/41) of eligible patients were offered testing, and at the regional hospital 62.7% (32/51). Fifty two percent (12/23) of eligible patient not offered testing were younger than 50 years at time of diagnosis. As many as 95.4% (125/131) of all patients who were offered testing, wanted to be tested. The majority of patients who fulfilled the criteria were offered testing, supporting the practice of mainstreamed genetic testing. There were nevertheless differences in rates of testing between the hospitals that affected all groups of patients, indicating that genetic testing may not be equally accessible to all patients. We suggest that efforts should be made to increase awareness and improve routines for genetic testing of breast cancer patients in Norway.

Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF (2003) 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 Med Genet 72:1117–1130

King MC, Marks JH, Mandell JB (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643–646CrossRef

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ et al (2017) Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317(23):2402–2416. https://doi.org/10.1001/jama.2017.7112 CrossRefPubMed

Metcalfe K, Gershman S, Ghadirian P, Lynch HT, Snyder C, Tung N, Kim-Sing C, Eisen A, Foulkes WD, Rosen B, Sun P, Narod SA (2014) Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis. BMJ 348:g226. https://doi.org/10.1136/bmj.g226 CrossRefPubMedPubMedCentral

Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, Mortimer P, Swaisland H, Lau A, O'Connor MJ, Ashworth A, Carmichael J, Kaye SB, Schellens JH, de Bono JS (2009) Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 361(2):123–134. https://doi.org/10.1056/NEJMoa0900212 CrossRefPubMed

Tutt A, Robson M, Garber JE, Domchek SM, Audeh MW, Weitzel JN, Friedlander M, Arun B, Loman N, Schmutzler RK, Wardley A, Mitchell G, Earl H, Wickens M, Carmichael J (2010) Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 376(9737):235–244. https://doi.org/10.1016/S0140-6736(10)60892-6 CrossRefPubMed

Stover DG, Winer EP (2015) Tailoring adjuvant chemotherapy regimens for patients with triple negative breast cancer. Breast 24:S132–S135. https://doi.org/10.1016/j.breast.2015.07.032 CrossRefPubMed

Sandhu SK, Schelman WR, Wilding G, Moreno V, Baird RD, Miranda S, Hylands L, Riisnaes R, Forster M, Omlin A, Kreischer N, Thway K, Gevensleben H, Sun L, Loughney J, Chatterjee M, Toniatti C, Carpenter CL, Iannone R, Kaye SB, de Bono JS, Wenham RM (2013) The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial. Lancet Oncol 14(9):882–892. https://doi.org/10.1016/S1470-2045(13)70240-7 CrossRefPubMed

Rodler ET, Kurland BF, Griffin M, Gralow JR, Porter P, Yeh RF, Gadi VK, Guenthoer J, Beumer JH, Korde L, Strychor S, Kiesel BF, Linden HM, Thompson JA, Swisher E, Chai X, Sheperd S, Giranda V, Specht JM (2016) Phase I study of Veliparib (ABT-888) combined with Cisplatin and Vinorelbine in advanced triple-negative breast cancer and/or BRCA mutation-associated breast cancer. Clin Cancer Res 22(12):2855–2864. https://doi.org/10.1158/1078-0432.CCR-15-2137 CrossRefPubMedPubMedCentral

10.

Kauff ND, Domchek SM, Friebel TM, Robson ME, Lee J, Garber JE, Isaacs C, Evans DG, Lynch H, Eeles RA, Neuhausen SL, Daly MB, Matloff E, Blum JL, Sabbatine P, Barakat RR, Hudis C, Norton L, Offit K, Rebbeck TR (2008) Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 26(8):1331–1337. https://doi.org/10.1200/JCO.2007 CrossRefPubMedPubMedCentral

11.

Evans DG, Baildam AD, Anderson E, Brain A, Shenton A, Vasen HF, Eccles D, Lucassen A, Pichert G, Hamed H, Moller P, Maehle L, Morrison PJ, Stoppat-Lyonnet D, Gregory H, Smyth E, Niederacher D, Nestle-Krämling C, Campbell J, Hopwood P, Lalloo F, Howell A (2009) Risk reducing mastectomy: outcomes in 10 European centres. J Med Genet 46(4):254–258. https://doi.org/10.1136/jmg.2008.062232 CrossRefPubMed

12.

Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t'veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR, (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975. https://doi.org/10.1001/jama.2010.1237 CrossRefPubMedPubMedCentral

13.

Norwegian Breast Cancer Group: National guidelines for diagnostics, treatment and follow-up of patients with breast cancer: https://nbcg.no/retningslinjer/content/text_7aca3287-7ec2-4c46-85c3-1ea97fd42377/1455823579701/brystkreftbehandlingsprogram_10_02.pdf. Accessed 15 February 2019

14.

NCCN Guidelines Version 3.2019 Genetic/Familial High-Risk Assessment: Breast and Ovarian: https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed 15 February 2019

15.

National Institute for Health and Care Excellence: Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer: NICE guidelines https://www.nice.org.uk/guidance/cg164. Accessed 15 February 2019

16.

Febbraro T, Robison K, Wilbur JS, Laprise J, Bregar A, Lopes V, Legare R, Stuckley A (2015) Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals. Gynecol oncol 138:109–114. https://doi.org/10.1016/j.ygyno.2015.04.029 CrossRefPubMedPubMedCentral

17.

Childers CP, Childers KK, Maggard-Gibbons M, Macinko J (2017) National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol 35:3800–3806.https://doi.org/10.1200/JCO.2017.73.6314 CrossRefPubMedPubMedCentral

18.

Powell CB, Littell R, Hoodfar E, Sinclair F, Pressman A (2013) Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling? Int J Gynecol Cancer 23(3):431–436. https://doi.org/10.1097/IGC.0b013e318280f2b4 CrossRefPubMed

19.

Nilsson MP, Winter C, Kristoffersson U, Rehn M, Larsson C, Saal LH, Loman N (2017) Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer. Fam Cancer 16(2):187–193. https://doi.org/10.1007/s10689-016-9953-x CrossRefPubMedPubMedCentral

20.

Augustinsson A, Ellberg C, Kristoffersson U, Borg A, Olsson H (2018) Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer. Acta Oncol 57(5):595–603. https://doi.org/10.1080/0284186X.2017.1404635 CrossRefPubMed

21.

Grindedal EM, Heramb C, Karsrud I, Ariansen SL, Maehle L, Undlien DE, Norum J, Schlichting E (2017) Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. BMC Cancer 17(1):438. https://doi.org/10.1186/s12885-017-3422- CrossRefPubMedPubMedCentral

22.

Rahman B, Lanceley A, Kristeleit RS, Ledermann JA, Lockley M, McCormack M, Mould T, Side L (2019) Mainstreamed genetic testing for women with ovarian cancer: first-year experience. J Med Genet 56(3):195–198. https://doi.org/10.1136/jmedgenet-2017-105140 CrossRefPubMed

23.

Hughes KS (2017) Genetic testing: what problem are we trying to solve? J Clin Oncol 35(34):3789–3791. https://doi.org/10.1200/JCO.2017.74.7899 CrossRefPubMed

24.

Pal T, Bonner D, Cragun D, Johnson S, Akbari M, Servais L, Narod S, Vadaparampil S (2014) BRCA sequencing and large rearrangement testing in young black women with breast cancer. J Commun Genet 5(2):157–165. https://doi.org/10.1007/s12687-013-0166-9 CrossRef

25.

Leon-Ferre RA, Giridhar KV, Hieken TJ, Mutter RW, Couch FJ, Jimenez RE, Hawse JR, Boughey JC, Ruddy KJ (2018) A contemporary review of male breast cancer: current evidence and unanswered questions. Cancer Metastasis Rev. 37(4):599–614. https://doi.org/10.1007/s10555-018-9761-x CrossRefPubMed

26.

Hoberg-Vetti H, Bjorvatn C, Fiane BE, Aas T, Woie K, Espelid H, Rusken T, Eikesdal HP, Listøl W, Haavind MT, Knappskog PM, Haukanes BI, Steen VM, Hoogerbrugge N (2016) BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. Eur J Hum Genet 24(6):881–888. https://doi.org/10.1038/ejhg.2015.196 CrossRefPubMed

27.

https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html. Accessed 15 February 2019.

28.

Rodríguez-Balada M, Roig B, Melé M, Albacar C, Serrano S, Salvat M, Querol M, Borràs J, Martorell L, Gumà J (2019) Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients. Clin Biochem. https://doi.org/10.1016/j.clinbiochem.2019.11.014 CrossRefPubMed

29.

Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk AE, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E (2018) Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Med. 7(4):1349–1358. https://doi.org/10.1002/cam4.1376 CrossRefPubMedPubMedCentral

30.

O'Leary E, Iacoboni D, Holle J, Michalski ST, Esplin ED, Yang S, Ouyang K (2017) Expanded gene panel use for women with breast cancer: identification and intervention beyond breast cancer risk. Ann Surg Oncol. 24(10):3060–3066. https://doi.org/10.1245/s10434-017-5963-7 CrossRefPubMedPubMedCentral

31.

Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O (2018) Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. J Cancer Res Clin Oncol. 144(12):2495–2513. https://doi.org/10.1007/s00432-018-2763-9 CrossRefPubMed

32.

Bellcross CA, Leadbetter S, Alford SH, Peipins LA (2013) Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral. Cancer Epidemiol Biomark Prev. 22(4):728–735. https://doi.org/10.1158/1055-9965.EPI-12-1280 CrossRef

33.

Bellcross CA, Peipins LA, McCarty FA, Rodriguez JL, Hawkins NA, Hensley Alford S, Leadbetter S (2015) Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system. Genet Med. 17(1):43–50. https://doi.org/10.1038/gim.2014.68 CrossRefPubMed

34.

van der Giessen JAM, van Riel E, Velthuizen ME, van Dulmen AM, Ausems MGEM (2017) Referral to cancer genetic counseling: do migrant status and patients' educational background matter? J Commun Genet 8(4):303–310. https://doi.org/10.1007/s12687-017-0326-4 CrossRef

35.

Williams CD, Bullard AJ, O'Leary M, Thomas R, Redding TS 4th, Goldstein K (2019) Racial/ethnic disparities in BRCA counseling and testing: a narrative review. J Racial Ethn Health Disparities. 6(3):570–583. https://doi.org/10.1007/s40615-018-00556-7 CrossRefPubMed

36.

Chun DS, Berse B, Venne VL, DuVall SL, Filipski KK, Kelley MJ, Meyer LJ, Icardi MS, Lynch JA (2017) BRCA testing within the Department of Veterans Affairs: concordance with clinical practice guidelines. Fam Cancer. 16(1):41–49. https://doi.org/10.1007/s10689-016-9921-5 CrossRefPubMed

37.

Chen Z, Kolor K, Grosse SD, Rodriguez JL, Lynch JA, Green RF, Dotson WD, Bowen MS, Khoury MJ (2018) Trends in utilization and costs of BRCA testing among women aged 18–64 years in the United States, 2003–2014. Genet Med. 20(4):428–434. https://doi.org/10.1038/gim.2017.118 CrossRefPubMed

38.

Swink A, Nair A, Hoof P, Matthews A, Burden C, Johnson K, Blum JL (2019) Barriers to the utilization of genetic testing and genetic counseling in patients with suspected hereditary breast and ovarian cancers. Bayl Univ Med Center Proc. 32(3):340–344. https://doi.org/10.1080/08998280.2019.1612702 CrossRef

39.

Kurian AW, Griffith KA, Hamilton AS, Ward KC, Morrow M, Katz SJ, Jagsi R (2017) Genetic testing and counseling among patients With newly diagnosed breast cancer. JAMA 317(5):531–534. https://doi.org/10.1001/jama.2016.16918 CrossRefPubMedPubMedCentral

40.

Cancer Registry of Norway (2018) Cancer Incidence in Norway 2017—Cancer incidence, mortality, survival and prevalence in Norway. Cancer Registry of Norway, Oslo

Title: Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway
Authors: Eli Marie Grindedal
Kjersti Jørgensen
Pernilla Olsson
Berit Gravdehaug
Hilde Lurås
Ellen Schlichting
Tone Vamre
Teresia Wangensteen
Cecilie Heramb
Lovise Mæhle
Publication date: 01-04-2020
Publisher: Springer Netherlands
Keywords: Breast Cancer
Breast Cancer
Published in: Familial Cancer / Issue 2/2020
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-020-00160-x

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