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. 2023 Feb;30(2):1017-1025.
doi: 10.1245/s10434-022-12595-w. Epub 2022 Sep 26.

Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients

Julie O Culver  1 , Yael Freiberg  2 , Charité Ricker  2 , Jacob G Comeaux  2 , Emmeline Y Chang  2 , Victoria Banerjee  2 , Duveen Sturgeon  3 , Ilana Solomon  3 , Josie Kagey  2 , Mariana G Dobre  2 , Joseph Carey  2 , Azadeh Carr  2 , Stephanie Cho  2 , Janice Lu  2 , Irene M Kang  2 , Ketan Patel  2 , Alicia Terando  2 , Jason C Ye  2 , Ming Li  2 , Caryn Lerman  2 , Darcy Spicer  2 , Maria Nelson  2
Affiliations

Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients

Julie O Culver et al. Ann Surg Oncol. 2023 Feb.

Abstract

Background: The American Society of Breast Surgeons recommends genetic testing (GT) for all women with breast cancer (BC), but implementation and uptake of GT has not been well-described.

Methods: A retrospective chart review was performed for newly diagnosed BC patients or patients with a newly identified recurrence of BC seen in a multidisciplinary clinic (MDBC) who were offered genetic counseling (GC) and GT.

Results: The 138 women attending the MDBC had a median age of 54 years and comprised non-Hispanic whites (46%), Asians (28%), Hispanics (17%), blacks (4%), and other (5%). Of the 105 (76%) patients without prior GT, 100 (95%) accepted GC, with 93 (93%) of these 100 patients undergoing GT. The patients meeting the National Comprehensive Cancer Network (NCCN) guidelines for GT were more likely to undergo GT. Testing was performed with a 67- to 84-gene panel, together with an 8- to 9-gene STAT panel if needed. Among 120 patients with reports available, including 33 patients previously tested, 15 (12%) were positive (1 BLM, 1 BRCA1, 3 BRCA2, 1 BRIP1, 1 CFTR, 1 CHEK2, 1 MUTYH, 1 PALB2, 1 PRSS1, 1 RAD50, 1 RET, and 2 TP53), 44 (37%) were negative, and 61 (51%) had an uncertain variant. The median time to STAT results (n = 50) was 8 days. The STAT results were available before surgery for 47 (98%) of the 48 STAT patients undergoing surgery.

Conclusions: New BC patients attending the MDBC demonstrated high rates of acceptance of GC and GT. The combination of GC and GT can offer timely information critical to patient risk assessment and treatment planning.

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Conflict of interest statement

Irene Kang has accepted consulting fees and speaker bureau fees for Puma Biotechnology and consulting fees for Bristol Myers Squibb. Ketan Patel received textbook royalties from Elsevier. The remaining authors have no conflicts of interest.

Figures

Fig. 1
Fig. 1
Uptake of genetic counseling and testing among multidisciplinary breast cancer clinic patients. GC, genetic counseling; GT, genetic testing. *Includes one woman with incomplete genetic testing who had GC and accepted additional GT. **GC accepted but testing previously ordered at outside facility, with results pending or with results indicating a variant of uncertain significance (VUS)
Fig. 2
Fig. 2
Genetic test results showing the proportion of patients with results that were positive or negative or that indicated a variant of uncertain significance
Fig. 3
Fig. 3
Pedigree of a woman with a new diagnosis of breast cancer who tested positive for BRCA1. Cascade testing of family members found that the mutation was inherited from her 77-year-old unaffected mother
See this image and copyright information in PMC

Comment in

References

    1. Runowicz CD, Leach CR, Henry NL, et al. American Cancer Society/American Society of Clinical Oncology Breast Cancer Survivorship Care Guideline. J Clin Oncol. 2016;34:611–635. doi: 10.1200/JCO.2015.64.3809. - DOI - PubMed
    1. Owens DK, Davidson KW, Krist AH, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;322:652–665. doi: 10.1001/jama.2019.10987. - DOI - PubMed
    1. Manahan ER, Kuerer HM, Sebastian M, et al. consensus guidelines on genetic testing for hereditary breast cancer from the American Society of Breast Surgeons. Ann Surg Oncol. 2019;26:3025–3031. doi: 10.1245/s10434-019-07549-8. - DOI - PMC - PubMed
    1. American College of Obstetricians and Gynecologists Hereditary cancer syndromes and risk assessment: ACOG committee opinion, no. 793. Obstet Gynecol. 2019;134:e143-9. - PubMed
    1. Daly MB, Pal T, Berry MP, et al. Genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Cancer Netw. 2021;19:77–102. doi: 10.6004/jnccn.2021.0001. - DOI - PubMed