Recommendation and Acceptance of Counselling for Familial Cancer Risk in Newly Diagnosed Breast Cancer Cases

Overview

Journal Breast Care (Basel)

Publisher Karger

Date 2022 Jun 15

PMID 35702497

Authors

Karin Kast

Julia Hafner

Evelin Schrock

Arne Jahn

Carmen Werner

Cornelia Meisel

Pauline Wimberger

Affiliations

Soon will be listed here.

Abstract

Background: In clinical routine, not every patient who is offered genetic counselling and diagnostics in order to investigate a familial cancer risk predisposition opts for it. Little is known about acceptance of counselling and testing in newly diagnosed breast cancer cases in Germany.

Methods: All primary breast cancer cases and patients with DCIS (ductal carcinoma in situ) treated at the University Hospital of Dresden between 2016 and 2019 were included. The number of tumor board recommendations for genetic counselling on the basis of the GC-HBOC risk criteria was recorded. Acceptance was analyzed by number of cases with counselling in the GC-HBOC-Center Dresden.

Results: Of 996 primary breast cancer and DCIS cases, 262 (26.3%) were eligible for genetic counselling. Recommendation for genetic counselling was accepted by 64.1% (168/262). Of these 90.5% (152/168) opted for molecular genetic analysis. The acceptance rate for counselling increased between 2016 and 2019 from 58.3 to 72.6%. Altogether, 20.4% (31/152) patients were found to carry a pathogenic variant in the breast cancer genes or .

Conclusion: Acceptance of recommendation is increasing as clinical consequences augment. Optimization in providing information about hereditary cancer risk and in accessibility of counselling and testing is required to further improve acceptance of recommendation.

Citing Articles

Access disparities and underutilization of germline genetic testing in Chilean breast cancer patients.

Acevedo F, Walbaum B, Camus M, Manzor M, Muniz S, Medina L Breast Cancer Res Treat. 2023; 199(2):363-370.

PMID: 36988750 DOI: 10.1007/s10549-023-06909-z.

References

Bednar E, Sun C, McCurdy S, Vernon S . Assessing relatives' readiness for hereditary cancer cascade genetic testing. Genet Med. 2019; 22(4):719-726. DOI: 10.1038/s41436-019-0735-3. View

Kuchenbaecker K, Hopper J, Barnes D, Phillips K, Mooij T, Roos-Blom M . Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017; 317(23):2402-2416. DOI: 10.1001/jama.2017.7112. View

Rhiem K, Engel C, Graeser M, Zachariae S, Kast K, Kiechle M . The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study. Breast Cancer Res. 2012; 14(6):R156. PMC: 4053142. DOI: 10.1186/bcr3369. View

Wappenschmidt B, Hauke J, Faust U, Niederacher D, Wiesmuller L, Schmidt G . Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer. Geburtshilfe Frauenheilkd. 2020; 80(4):410-429. PMC: 7174002. DOI: 10.1055/a-1110-0909. View

Harter P, Hauke J, Heitz F, Reuss A, Kommoss S, Marme F . Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS One. 2017; 12(10):e0186043. PMC: 5650145. DOI: 10.1371/journal.pone.0186043. View

Katz S, Kurian A, Morrow M . Treatment Decision Making and Genetic Testing for Breast Cancer: Mainstreaming Mutations. JAMA. 2015; 314(10):997-8. DOI: 10.1001/jama.2015.8088. View

Hartmann L, Lindor N . The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer. N Engl J Med. 2016; 374(5):454-68. DOI: 10.1056/NEJMra1503523. View

Shimelis H, LaDuca H, Hu C, Hart S, Na J, Thomas A . Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing. J Natl Cancer Inst. 2018; 110(8):855-862. PMC: 6093350. DOI: 10.1093/jnci/djy106. View

Caswell-Jin J, Zimmer A, Stedden W, Kingham K, Zhou A, Kurian A . Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative. J Natl Cancer Inst. 2018; 111(1):95-98. PMC: 6335111. DOI: 10.1093/jnci/djy147. View

10.

Domchek S, Friebel T, Singer C, Evans D, Lynch H, Isaacs C . Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010; 304(9):967-75. PMC: 2948529. DOI: 10.1001/jama.2010.1237. View

11.

Griffin N, Buchanan T, Smith S, Leon A, Meyer M, Liu J . Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention. Gynecol Oncol. 2019; 156(1):140-146. DOI: 10.1016/j.ygyno.2019.11.005. View

12.

Kast K, Link T, Friedrich K, Petzold A, Niedostatek A, Schoffer O . Impact of breast cancer subtypes and patterns of metastasis on outcome. Breast Cancer Res Treat. 2015; 150(3):621-9. DOI: 10.1007/s10549-015-3341-3. View

13.

Goldhirsch A, Wood W, Coates A, Gelber R, Thurlimann B, Senn H . Strategies for subtypes--dealing with the diversity of breast cancer: highlights of the St. Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2011. Ann Oncol. 2011; 22(8):1736-47. PMC: 3144634. DOI: 10.1093/annonc/mdr304. View

14.

Valero M, Moo T, Muhsen S, Zabor E, Stempel M, Pusic A . Use of bilateral prophylactic nipple-sparing mastectomy in patients with high risk of breast cancer. Br J Surg. 2020; 107(10):1307-1312. PMC: 7938823. DOI: 10.1002/bjs.11616. View

15.

Rhiem K, Bucker-Nott H, Hellmich M, Fischer H, Ataseven B, Dittmer-Grabowski C . Benchmarking of a checklist for the identification of familial risk for breast and ovarian cancers in a prospective cohort. Breast J. 2019; 25(3):455-460. DOI: 10.1111/tbj.13257. View

16.

Bellcross C, Peipins L, McCarty F, Rodriguez J, Hawkins N, Hensley Alford S . Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system. Genet Med. 2014; 17(1):43-50. PMC: 4522900. DOI: 10.1038/gim.2014.68. View

17.

Litton J, Hurvitz S, Mina L, Rugo H, Lee K, Goncalves A . Talazoparib versus chemotherapy in patients with germline BRCA1/2-mutated HER2-negative advanced breast cancer: final overall survival results from the EMBRACA trial. Ann Oncol. 2020; 31(11):1526-1535. PMC: 10649377. DOI: 10.1016/j.annonc.2020.08.2098. View

18.

Hafertepen L, Pastorino A, Morman N, Snow J, Halaharvi D, Byrne L . Barriers to genetic testing in newly diagnosed breast cancer patients: Do surgeons limit testing?. Am J Surg. 2016; 214(1):105-110. DOI: 10.1016/j.amjsurg.2016.08.012. View

19.

Scott D, Friedman S, Telli M, Kurian A . Decision Making About Genetic Testing Among Women With a Personal and Family History of Breast Cancer. JCO Oncol Pract. 2019; 16(1):e37-e55. DOI: 10.1200/JOP.19.00221. View

20.

Rana H, Kipnis L, Hehir K, Cronin A, Jaung T, Stokes S . Embedding a genetic counselor into oncology clinics improves testing rates and timeliness for women with ovarian cancer. Gynecol Oncol. 2020; 160(2):457-463. DOI: 10.1016/j.ygyno.2020.11.003. View