Dataset Information

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

ABSTRACT:

Purpose

The aim of the study was to evaluate the clinical implication of multigene panel testing of beyond BRCA genes in Korean patients with BRCA1/2 mutation-negative breast cancer.

Materials and methods

Between 2016 and 2019, a total of 700 BRCA1/2 mutation-negative breast cancer patients received comprehensive multigene panel testing and genetic counseling. Among them, 347 patients completed a questionnaire about cancer worry, genetic knowledge, and preference for the method of genetic tests during pre- and post-genetic test counseling. The frequency of pathogenic and likely pathogenic variants (PV/LPV) were analyzed.

Results

At least one PV/LPV of 26 genes was found in 76 out of 700 patients (10.9 %). The rate for PV/LPV was 3.4% for high-risk genes (17 PALB2, 6 TP53, and 1 PTEN). PV/LPVs of clinical actionable genes for breast cancer management, high-risk genes and other moderate-risk genes such as ATM, BARD1, BRIP, CHEK2, NF1, and RAD51D, were observed in 7.4%. Patients who completed the questionnaire showed decreased concerns about the risk of additional cancer development (average score, 4.21 to 3.94; p < 0.001), influence on mood (3.27 to 3.13; p < 0.001), influence on daily functioning (3.03 to 2.94; p=0.006); and increased knowledge about hereditary cancer syndrome (66.9 to 68.8; p=0.025) in post-test genetic counseling. High cancer worry scales (CWSs) were associated with age ≤ 40 years and the identification of PV/LPV. Low CWSs were related to the satisfaction of the counselee.

Conclusion

Comprehensive multigene panel test with genetic counseling is clinically applicable. It should be based on interpretable genetic information, consideration of potential psychological consequences, and proper preventive strategies.

SUBMITTER: Park JS

PROVIDER: S-EPMC9582472 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Park Ji Soo JS Shin Saeam S Lee Yoon Jung YJ Lee Seung-Tae ST Nam Eun Ji EJ Han Jung Woo JW Lee Sun Hwa SH Kim Tae Il TI Park Hyung Seok HS

Cancer research and treatment 20211117 4

<h4>Purpose</h4>The aim of the study was to evaluate the clinical implication of multigene panel testing of beyond BRCA genes in Korean patients with BRCA1/2 mutation-negative breast cancer.<h4>Materials and methods</h4>Between 2016 and 2019, a total of 700 BRCA1/2 mutation-negative breast cancer patients received comprehensive multigene panel testing and genetic counseling. Among them, 347 patients completed a questionnaire about cancer worry, genetic knowledge, and preference for the method of ...[more]

PMID: 34793666

Similar Datasets

Project description:Women with a personal history of breast or ovarian cancer who previously had BRCA1/2 testing now have the opportunity for additional genetic risk information through multi-gene panel testing. However, little is known about women's receptivity to further contact and uptake of genetic counseling and updated genetic testing. Utilizing a clinic database to identify potential participants, we prospectively contacted women in the United States with a personal and/or family history of breast or ovarian cancer who had negative BRCA1/2 testing, which was performed primarily between 2011 and 2018. Eligible and interested participants were scheduled for a genetic counseling appointment to discuss updated genetic testing using a multi-gene panel. We attempted to contact 455 participants, screened 203 (45%), and 103 (23%) completed a pre-test genetic counseling visit to discuss updated testing. Of these, 88 participants had updated multi-gene panel testing. Participants had an average age of 59 years, and most (78%) had breast cancer with an average age of 45 at diagnosis. The majority (97%) of participants were white. Of participants who underwent panel testing, 13% (n = 11) had at least one pathogenic variant identified. Most participants (86%) had an out-of-pocket cost of $100 or less for their panel. There is a sizable population of women with a personal and/or family history of breast or ovarian cancer and negative BRCA1/2 test results who would qualify for updated multi-gene panel testing. In our study, 59% of those reached who were eligible completed a pre-test genetic counseling visit. Clinics could consider an outreach program to offer genetic counseling and updated genetic testing. Supports for this type of effort may include coordinators and genetic counseling assistants and an available database with patients' contact information and prior genetic test results. Updated testing allows women more information about their risk and may expand the value of genetic counseling.

Dataset Information

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Purpose

Materials and methods

Results

Conclusion

Publications

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Similar Datasets

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