Skip to main content

Advertisement

SpringerLink
Log in

Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening

  • Original Article
  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

Women attending mammography screening may benefit from family history (FH) assessment for the identification of Hereditary Breast Ovarian Cancer (HBOC). Few studies explored the efficacy of tailored educational interventions in driving the attention on FH-associated risk among these women. To compare the efficacy of two educational tools in increasing attention towards FH, 6.802 women with a negative mammography were randomized to receive a note on FH of breast/ovarian cancer (letter A, n = 3.402) or a note with details on possible implication of FH patterns (letter B, n = 3.200). Upon women’s request, a brief questionnaire was administered on phone at the Screening Unit (S.U.) to select those eligible for an in-depth FH evaluation at the Genetic Unit (G.U.). Each affected relative was scored 1–3 according to type of cancer, age at diagnosis, gender, position in the family tree. In all, 401 women contacted the S.U.: 244 (6.6%) in group A and 177 (5.2%) in group B (adjOR 1.27; 95%CI 1.03–1.56). FH scored ≥ 3 for 164 women: 177 (47.5%) in group B and 224 (35.7%) in group A, (adjOR 1.59, 95%CI 1.06–2.38). The G.U. traced and interviewed 148 women, 65 (43.9%) were offered an in-person consultation: 38 attended and 30 were eligible for testing. A test was performed for 24 women: no BRCA pathogenic variant was found. Among mammographic screening attendees, educational material with a simple description of FH may improve self-referral of women deserving an in-depth evaluation for HBOC identification. Additional educational efforts are needed to enhance the efficiency of the intervention.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

Data availability

Data are available upon request at the Unit of Clinical Epidemiology, IRCCS Ospedale Policlinico San Martino – Genoa, Italy (Luigina Bonelli).

Code availability

Not applicable.

References

  1. Masala G, Ambrogetti D, Assedi M, Bendinelli B, Caini S, Palli D (2017) Mammographic breast density and breast cancer risk in a Mediterranean population: a nested case-control study in the EPIC Florence cohort. Breast Cancer Res Treat 164:467–473. https://doi.org/10.1007/s10549-017-4274-9

    Article  PubMed  Google Scholar 

  2. Bravi F, Decarli A, Russo AG (2018) Risk factors for breast cancer in a cohort of mammographic screening program: a nested case-control study within the FRiCaM study. Cancer Med 7:2145–2152. https://doi.org/10.1002/cam4.1427

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Martin LJ, Melnichouk O, Guo H, Chiarelli AM, Hislop TG, Yaffe MJ, Minkin S, Hopper JL, Boyd NF (2010) Family history, mammographic density, and risk of breast cancer. Cancer Epidemiol Biomark Prev 19:456–463. https://doi.org/10.1158/1055-9965.EPI-09-881

    Article  Google Scholar 

  4. Engmann NJ, Golmakani MK, Miglioretti DL, Sprague BL, Kerlikowske K (2017) Breast cancer surveillance consortium. Population-attributable risk proportion of clinical risk factors for breast cancer. JAMA Oncol 3:1228–1236. https://doi.org/10.1001/jamaoncol.2016.6326

    Article  PubMed  PubMed Central  Google Scholar 

  5. Collaborative Group on Hormonal Factors in Breast Cancer (2001) Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 358:1389–1399. https://doi.org/10.1016/S0140-6736(01)06524-2

    Article  Google Scholar 

  6. Shiyanbola OO, Arao RF, Miglioretti DL, Sprague BL, Hampton JM, Stout NK, Kerlikowske K, Braithwaite D, Buist DSM, Egan KM, Newcomb PA, Trentham-Dietz A (2017) Emerging trends in family history of breast cancer and associated risk. Cancer Epidemiol Biomark Prev 26:1753–1760. https://doi.org/10.1158/1055-9965.EPI-17-0531

    Article  Google Scholar 

  7. Hu C, Polley EC, Yadav S, Lilyquist J, Shimelis H, Na J, Hart SN, Goldgar DE, Shah S, Pesaran T, Dolinsky JS, LaDuca H, Couch FJ (2020) The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort. J Natl Cancer Inst. https://doi.org/10.1093/jnci/djaa023.

  8. US Preventive Services Task Force, Owens DK, Davidson KW, Krist AH, Barry MJ, Cabana M, Caughey AB, Doubeni CA, Epling JW Jr, Kubik M, Landefeld CS, Mangione CM, Pbert L, Silverstein M, Simon MA, Tseng CW, Wong JB (2019) Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US preventive services task force recommendation statement. JAMA 322:652–665. https://doi.org/10.1001/jama.2019.10987

    Article  Google Scholar 

  9. Kast K, Rhiem K, Wappenschmidt B et al (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet 53:465–471. https://doi.org/10.1136/jmedgenet-2015-103672

    Article  CAS  PubMed  Google Scholar 

  10. Azzollini J, Scuvera G, Bruno E, Pasanisi P, Zaffaroni D, Calvello M, Pasini B, Ripamonti CB, Colombo M, Pensotti V, Radice P, Peissel B, Manoukian S (2016) Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: a monocentric Italian study. Eur J Intern Med 32:65–71. https://doi.org/10.1016/j.ejim.2016.03.010

    Article  PubMed  Google Scholar 

  11. Lauby-Secretan B, Scoccianti C, Loomis D, Benbrahim-Tallaa L, Bouvard V, Bianchini F, Straif K (2015) Breast-cancer screening—viewpoint of the IARC Working Group. N Engl J Med 372:2353–2358. https://doi.org/10.1056/NEJMsr1504363

    Article  CAS  PubMed  Google Scholar 

  12. Dimitrova N, Saz Parkinson Z, Bramesfeld A, Uluturk Tekin A, Bocchi G, Pylkkanen L, Lopez Alcalde J, Neamtiu L, Ambrosio M, Deandrea S, Lerda D (2016) European guidelines for breast cancer screening and diagnosis—The European Breast Guidelines. EUR 28360 EN. Luxembourg (Luxembourg): Publications Office of the European Union. JRC104007

  13. Marmot M, Altman D, Cameron D et al (2013) The benefits and harms of breast cancer screening: an independent review. Br J Cancer 108:2205–2240. https://doi.org/10.1038/bjc.2013.177

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Puliti D, Duffy SW, Miccinesi G, de Koning H, Lynge E, Zappa M, Paci E; EUROSCREEN Working Group (2012) Overdiagnosis in mammographic screening for breast cancer in Europe: a literature review. J Med Screen 19(Suppl 1):42–56. https://doi.org/10.1258/jms.2012.012082

    Article  Google Scholar 

  15. Bulliard JL, Beau AB, Njor S, Wu WY, Procopio P, Nickson C, Lynge E (2021) Breast cancer screening and overdiagnosis. Int J Cancer. https://doi.org/10.1002/ijc.33602

    Article  PubMed  Google Scholar 

  16. Lowery JT, Byers T, Hokanson JE, Kittelson J, Lewin J, Risendal B, Singh M, Mouchawar J (2011) Complementary approaches to assessing risk factors for interval breast cancer. Cancer Causes Control 22:23–31. https://doi.org/10.1007/s10552-010-9663-x

    Article  PubMed  Google Scholar 

  17. Halapy E, Chiarelli AM, Klar N, Knight JA (2005) Accuracy of breast screening among women with and without a family history of breast and/or ovarian cancer. Breast Cancer Res Treat 90:299–305. https://doi.org/10.1007/s10549-004-5168-1

    Article  PubMed  Google Scholar 

  18. Blanch J, Sala M, Ibáñez J, Domingo L, Fernandez B, Otegi A, Barata T, Zubizarreta R, Ferrer J, Castells X, Rué M, Salas D; INCA Study Group (2014). Impact of risk factors on different interval cancer subtypes in a population-based breast cancer screening programme. PLoS ONE. 9(10):e110207. https://doi.org/10.1371/journal.pone.0110207.

  19. Evans DG, Donnelly LS, Harkness EF, Astley SM, Stavrinos P, Dawe S, Watterson D, Fox L, Sergeant JC, Ingham S, Harvie MN, Wilson M, Beetles U, Buchan I, Brentnall AR, French DP, Cuzick J, Howell A (2016) Breast cancer risk feedback to women in the UK NHS breast screening population. Br J Cancer 114:1045–1052. https://doi.org/10.1038/bjc.2016.56

    Article  PubMed  PubMed Central  Google Scholar 

  20. TBST study group. Tailored screening for breast cancer in premenopausal women (TBST) https://clinicaltrials.gov/ct2/show/ NCT02619123.

  21. My Pebs international randomized study comparing personalized, risk-stratified to standard breast cancer screening in women aged 40-70. ClinicalTrials.gov Identifier: NCT03672331 http://www.MyPeBS.eu/

  22. Cortesi L, Baldassarri B, Ferretti S, Razzaboni E, Bella M, Bucchi L, Canuti D, De Iaco P, De Santis G, Falcini F, Galli V, Godino L, Leoni M, Perrone AM, Pignatti M, Saguatti G, Santini D, Sassoli de’Bianchi P, Sebastiani F, Taffurelli M, Tazzioli G, Turchetti D, Zamagni C, Naldoni C (2020) A regional population-based hereditary breast cancer screening tool in Italy: first 5-year results. Cancer Med. https://doi.org/10.1002/cam4.2824

    Article  PubMed  PubMed Central  Google Scholar 

  23. van Erkelens A, Sie AS, Manders P, Visser A, Duijm LE, Mann RM, Ten Voorde M, Kroeze H, Prins JB, Hoogerbrugge N (2017) Online self-test identifies women at high familial breast cancer risk in population-based breast cancer screening without inducing anxiety or distress. Eur J Cancer 78:45–52. https://doi.org/10.1016/j.ejca.2017.03.014

    Article  PubMed  Google Scholar 

  24. Wernke K, Bellcross C, Gabram S, Ali N, Stanislaw C (2019) Impact of implementing B-RSTTM to screen for hereditary breast and ovarian cancer on risk perception and genetic counseling uptake among women in an academic safety net hospital. Clin Breast Cancer 19:e547–e555. https://doi.org/10.1016/j.clbc.2019.02.014

    Article  PubMed  Google Scholar 

  25. Meinert CL (1986) Clinical trials: design, conduct and analysis. . Oxford University Press, Oxford

    Book  Google Scholar 

  26. Varesco L, Viassolo V, Viel A, Gismondi V, Radice P, Montagna M, Alducci E, Della Puppa L, Oliani C, Tommasi S, Caligo MA, Vivanet C, Zuradelli M, Mandich P, Tibiletti MG, Cavalli P, Lucci Cordisco E, Turchetti D, Boggiani D, Bracci R, Bruzzi P, Bonelli L (2013) Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics. Breast 22:1130–1135. https://doi.org/10.1016/j.breast.2013.07.053

    Article  CAS  PubMed  Google Scholar 

  27. Kne A, Zierhut H, Baldinger S, Swenson KK, Mink P, Veach PM, Tsai ML (2017) Why is cancer genetic counseling underutilized by women identified as at risk for hereditary breast cancer? Patient perceptions of barriers following a referral letter. J Genet Couns 26:697–715. https://doi.org/10.1007/s10897-016-0040-0

    Article  PubMed  Google Scholar 

  28. Silver E, Wenger N, Xie Z, Elashoff D, Lee K, Madlensky L, Trent J, Petruse A, Johansen L, Naeim A (2019) Implementing a population-based breast cancer risk assessment program. Clin Breast Cancer 19:246–253

    Article  Google Scholar 

  29. Krakow M, Ratcliff CL, Hesse BW, Greenberg-Worisek AJ (2017) Assessing genetic literacy awareness and knowledge gaps in the US population: results from the health information national trends survey. Public Health Genomics 20:343–348. https://doi.org/10.1159/000489117

    Article  PubMed  Google Scholar 

  30. Krakow M, Rising CJ, Trivedi N, Yoon DC, Vanderpool RC (2020) Prevalence and correlates of family cancer history knowledge and communication among US adults. Prev Chronic Dis 17:E146. https://doi.org/10.5888/pcd17.200257

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Author information

Authors and Affiliations

  1. Unit of Clinical Epidemiology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy

    Luigina Bonelli

  2. Department of Prevention, ASL3-Liguria, Genoa, Italy

    Ivana Valle & Ivana Rebora

  3. Unit of Screening Evaluation and Organization, ASL3-Liguria, Genoa, Italy

    Paola Ricci, Lidia Biocchi, Giovanna Bruschi & Sabrina Parodi

  4. Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy

    Carla Bruzzone & Liliana Varesco

Authors
  1. Luigina Bonelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ivana Valle
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ivana Rebora
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Paola Ricci
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Lidia Biocchi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Giovanna Bruschi
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Sabrina Parodi
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Carla Bruzzone
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Liliana Varesco
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

LB, conceptualization, methodology, formal analysis, writing original draft & editing; IV, conceptualization, supervision, validation, original draft review; IR, data curation, supervision; PR, investigation, LB, investigation; GB, investigation; SP, investigation; CB, investigation; LV, conceptualization, methodology, supervision, writing original draft & editing. All the authors reviewed and approved the final draft.

Corresponding author

Correspondence to Luigina Bonelli.

Ethics declarations

Conflict of interest

The authors declare that they have no conflicts of interest.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 25 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Bonelli, L., Valle, I., Rebora, I. et al. Identification of women at risk of hereditary breast–ovarian cancer among participants in a population-based breast cancer screening. Familial Cancer 21, 309–318 (2022). https://doi.org/10.1007/s10689-021-00281-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-021-00281-x

Keywords

Search

Navigation