Citation: Baroutsou, V.; Duong, V.;
Signorini, A.; Saccilotto, R.; Ciorba,
F.M.; Bürki, N.; Caiata-Zufferey, M.;
Ryu, J.M.; Kim, S.-W.; Lim, M.C.; et al.
Acceptability and Usability of the
Family Gene Toolkit for Swiss and
Korean Families Harboring
BRCA1/BRAC2 Pathogenic Variants:
A Web-Based Platform for Cascade
Genetic Testing. Cancers 2023, 15,
4485. https://doi.org/10.3390/
cancers15184485
Academic Editor: Dik C. van Gent
Received: 9 August 2023
Revised: 5 September 2023
Accepted: 6 September 2023
Published: 9 September 2023
Copyright: © 2023 by the authors.
Licensee MDPI, Basel, Switzerland.
This article is an open access article
distributed under the terms and
conditions of the Creative Commons
Attribution (CC BY) license (https://
creativecommons.org/licenses/by/
4.0/).
cancers
Article
Acceptability and Usability of the Family Gene Toolkit for
Swiss and Korean Families Harboring BRCA1/BRAC2
Pathogenic Variants: A Web-Based Platform for Cascade
Genetic Testing
Vasiliki Baroutsou
1
, Vu Duong
1
, Alice Signorini
1
, Ramon Saccilotto
1
, Florina M. Ciorba
2
, Nicole Bürki
3
,
Maria Caiata-Zufferey
4
, Jai Min Ryu
5
, Sung-Won Kim
6
, Myong Cheol Lim
7
, Christian Monnerat
8
,
Ursina Zürrer-Härdi
9
, Jisun Kim
10
, Karl Heinimann
11,12
, Rossella Graffeo
13
, Ji Soo Park
14
,
Manuela Rabaglio
15
, Pierre Olivier Chappuis
16,17
, Sue Kim
18
, Maria C. Katapodi
1,
*
and on behalf of the CASCADE and K-CASCADE Consortia
†
1
Department of Clinical Research, Faculty of Medicine, University of Basel, 4055 Basel, Switzerland;
vasiliki.baroutsou@unibas.ch (V.B.); vu.duong@usb.ch (V.D.); alice.signorini@stud.unibas.ch (A.S.);
ramon.saccilotto@usb.ch (R.S.)
2
Department of Mathematics and Computer Science, University of Basel, 4051 Basel, Switzerland;
florina.ciorba@unibas.ch
3
Women’s Clinic, University Hospital Basel, 4031 Basel, Switzerland; n.buerki@hin.ch
4
Department of Business Economics, Health and Social Care, University of Applied Sciences and Arts of
Southern Switzerland, 6928 Manno, Switzerland; maria.caiata@supsi.ch
5
Division of Breast Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University
School of Medicine, Seoul 06351, Republic of Korea; jaimin.ryu@samsung.com
6
Department of Breast Surgery, Breast Care Center, Dairim St Mary’s Hospital, Seoul 07442, Republic of Korea;
brcakorea@gmail.com
7
Division of Tumor Immunology, Center for Gynecologic Cancer Research Institute and Hospital,
National Cancer Center, Goyang 10408, Republic of Korea; mclim@ncc.re.kr
8
Department of Medical Oncology, Hospital of Jura, 2800 Delemont, Switzerland; christian.monnerat@h-ju.ch
9
Department of Medical Oncology, Cantonal Hospital Winterthur, 8400 Winterthur, Switzerland;
ursina.zuerrer@ksw.ch
10
Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine,
Seoul 05505, Republic of Korea; jisunkim@amc.seoul.kr
11
Institute for Medical Genetics and Pathology, University Hospital Basel, 4031 Basel, Switzerland;
karl.heinimann@usb.ch
12
Research Group Human Genomics, Department of Biomedicine, University of Basel, 4031 Basel, Switzerland
13
Oncology Institute of Southern Switzerland, Ente Ospedaliero Cantonale (EOC), 6500 Bellinzona, Switzerland;
rossella.graffeogalbiati@eoc.ch
14
Hereditary Cancer Clinic, Cancer Prevention Center, Yonsei Cancer Center, Division of Medical Oncology,
Department of Internal Medicine, Yonsei University College of Medicine, Seoul 03772, Republic of Korea;
pmjisu@yuhs.ac
15
Department of Medical Oncology, Inselspital, Bern University Hospital, 3010 Bern, Switzerland;
manuela.rabaglio@insel.ch
16
Unit of Oncogenetics, Division of Precision Oncology, University Hospitals of Geneva,
1205 Geneva, Switzerland; pierre.chappuis@hcuge.ch
17
Division of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland
18
College of Nursing, Yonsei University, Seoul 03722, Republic of Korea; suekim@yuhs.ac
* Correspondence: maria.katapodi@unibas.ch
†
Membership of the CASCADE and K-CASCADE consortia is provided in the Acknowledgments.
Simple Summary: The study adapted an existing Web-based intervention, the Family Gene Toolkit,
for Swiss and Korean families that harbor the genetic changes associated with hereditary breast and
ovarian cancer syndrome. The Family Gene Toolkit encourages family communication of genetic
testing results and cascade genetic testing among at-risk relatives. Feedback from 68 women with
genetic changes and 31 clinicians informed the culturally sensitive adaptation of the content. The
Information Technology team developed the web application that will host the intervention. Finally,
a new sample of 18 women from families with hereditary breast and ovarian cancer reviewed and
Cancers 2023, 15, 4485. https://doi.org/10.3390/cancers15184485 https://www.mdpi.com/journal/cancers