Srinivasan S, Won NY, Dotson WD et al (2020) Barriers and facilitators for cascade testing in genetic conditions: a systematic review. Eur J Hum Genet 28:1631–1644. https://doi.org/10.1038/s41431-020-00725-5.

Article  PubMed  PubMed Central  Google Scholar 

Baroutsou V, Underhill-Blazey ML, Appenzeller-Herzog C, Katapodi MC (2021) Interventions facilitating family communication of genetic testing results and cascade screening in hereditary breast/ovarian cancer or lynch syndrome: a systematic review and meta-analysis. Cancers (Basel) 13:925. https://doi.org/10.3390/cancers13040925

Article  PubMed  Google Scholar 

Frey MK, Ahsan MD, Bergeron H et al (2022) Cascade testing for hereditary cancer syndromes: should we move toward direct relative contact? A systematic review and meta-analysis. J Clin Oncol 40:4129–4143. https://doi.org/10.1200/JCO.22.00303

Article  PubMed  PubMed Central  Google Scholar 

Baumann KE, Brodsky AL, Bhuptani B et al (2020) Why do patients decline cascade testing in families with an identified mutation associated with hereditary gynecologic cancers? Gynecol Oncol 159:257–257. https://doi.org/10.1016/j.ygyno.2020.05.442

Article  Google Scholar 

Fehniger J, Lin F, Beattie MS et al (2013) Family communication of BRCA1/2 results and family uptake of BRCA1/2 testing in a diverse population of BRCA1/2 carriers. J Genet Couns 22:603–612. https://doi.org/10.1007/s10897-013-9592-4

Article  PubMed  Google Scholar 

Lee J, Ham JY, Park HY et al (2022) Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers. Sci Rep. https://doi.org/10.1038/s41598-022-05931-3

Article  PubMed  PubMed Central  Google Scholar 

Ahsan MD, Levi SR, Webster EM et al (2023) Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis. PEC Innov 2:100138. https://doi.org/10.1016/j.pecinn.2023.100138

Article  PubMed  PubMed Central  Google Scholar 

Dheensa S, Lucassen A, Fenwick A (2018) Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with patients and healthcare professionals. J Genet Couns 27:689–701. https://doi.org/10.1007/s10897-017-0164-x

Article  PubMed  Google Scholar 

Aktan-Collan K, Haukkala A, Pylvänäinen K et al (2007) Direct contact in inviting high-risk members of hereditarycolon cancer families to genetic counselling and DNA testing. J Med Genet 44:732–738

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sermijn E, Delesie L, Deschepper E et al (2016) The impact of an interventional counselling procedure in families with a BRCA1/2gene mutation: efficacy and safety. Fam Cancer 15:155–162. https://doi.org/10.1007/s10689-015-9854-4.

Article  PubMed  PubMed Central  Google Scholar 

van den Heuvel L, Stemkens D, van Zelst-Stams W (2020) How to inform at-risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population. J Genet Couns 29:786–799. https://doi.org/10.1002/jgc4.1206

Article  Google Scholar 

van den Heuvel L, Hoedemaekers Y, Baas A et al (2022) A tailored approach to informing relatives at risk of inheritedcardiac conditions: results of a randomised controlled trial. Eur J Hum Genet 30:203–210. https://doi.org/10.1038/s41431-021-00993-9.

Article  PubMed  Google Scholar 

Tiller JM, Stott A, Finlay K et al (2023) Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public. Eur J Hum Genet. https://doi.org/10.1038/s41431-023-01395-9

Article  PubMed  PubMed Central  Google Scholar 

Schienda J, Stopfer J (2020) Cancer genetic counseling—current practice and future challenges. Cold Spring Harb Perspect Med. https://doi.org/10.1101/cshperspect.a036541

Article  PubMed  PubMed Central  Google Scholar 

Barnoy S, Dagan E, Kim S et al (2023) Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience. Front Genet. https://doi.org/10.3389/fgene.2023.1109431

Article  PubMed  PubMed Central  Google Scholar 

Phillips A, Vears DF, Van Hoyweghen I, Borry P (2024) Clinician perspectives on policy approaches to genetic risk disclosure in families. Fam Cancer. https://doi.org/10.1007/s10689-024-00375-2

Article  PubMed  PubMed Central  Google Scholar 

Lindberg LJ, Wadt KAW, Katapodi MC, et al (2024) National experiences from 30 years of provider-mediated cascade testing in lynch syndrome families-the Danish model. https://doi.org/10.3390/cancers16081577

Di Pietro ML, Zaçe D, Orfino A et al (2021) Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach. Eur J Hum Genet 29:250–261. https://doi.org/10.1038/s41431-020-00723-7

Article  PubMed  Google Scholar 

Ponz de Leon M, Benatti P, Di Gregorio C et al (2004) Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer. Br J Cancer 90:882–887. https://doi.org/10.1038/sj.bjc.6601529

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ongaro G, Petrocchi S, Calvello M et al (2022) Psychological determinants of men’s adherence to Cascade Screening for BRCA1/2. Curr Oncol 29:2490–2503. https://doi.org/10.3390/curroncol29040203.

Article  PubMed  PubMed Central  Google Scholar 

Stol YH, Menko FH, Westerman MJ, Janssens Rien MJPA (2009) Informing family members about a hereditary predisposition to cancer: attitudes and practices among clinical geneticists. J Med Ethics. 2010 Jul;36(7):391-5. https://doi.org/10.1136/jme.2009.033324.

Henrikson NB, Wagner JK, Hampel H et al (2020) What guidance does HIPAA offer to providers considering familial risk notification and cascade genetic testing? J Law Biosci. https://doi.org/10.1093/jlb/lsaa071

Article  PubMed  PubMed Central  Google Scholar 

Afaya A, Kim S-W, Park HS et al (2024) Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review. Fam Cancer. https://doi.org/10.1007/s10689-024-00379-y

Article  PubMed  Google Scholar 

Dove ES, Chico V, Fay M et al (2019) Familial genetic risks: how can we better navigate patient confidentiality and appropriate risk disclosure to relatives? Clinical ethics. J Med Ethics 45:504–507. https://doi.org/10.1136/medethics-2018-105229

Article  PubMed  Google Scholar 

Tuffaha HW, Mitchell A, Ward RL et al (2018) Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers. Genet Med 20:985–994. https://doi.org/10.1038/gim.2017.231

Article  PubMed  Google Scholar 

Committee on Gynecologic Practice (2018) Cascade testing: testing women for known hereditary genetic mutations associated with cancer. Obstet Gynecol 131:e31–e34. https://doi.org/10.1097/AOG.0000000000002457

Article  Google Scholar 

Schmidlen TJ, Bristow SL, Hatchell KE et al (2022) The impact of proband indication for genetic testing on the uptake of cascade testing among relatives. Front Genet. https://doi.org/10.3389/fgene.2022.867226

Article  PubMed  PubMed Central  Google Scholar 

Menko FH, Aalfs CM, Henneman L et al (2013) Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. Fam Cancer 12:319–324. https://doi.org/10.1007/s10689-013-9636-9

Article  PubMed  Google Scholar 

Andersson A, Hawranek C, Öfverholm A et al (2020) Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden. Hered Cancer Clin Pract 18:18. https://doi.org/10.1186/s13053-020-00151-0

Article  PubMed  PubMed Central  Google Scholar 

Cragun DL, Hunt PP, Dean M et al (2023) Applying the framework for developing and evaluating complex interventions to increase family communication about hereditary cancer. PEC Innov 2:100133. https://doi.org/10.1016/j.pecinn.2023.100133

Article  PubMed  PubMed Central  Google Scholar 

Young AL, Imran A, Spoelma MJ, et al (2022) Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review. Eur J Hum Genet. 2023 Jan;31(1):18-34. https://doi.org/10.1038/s41431-022-01200-z.

Tiller J, Nowak K, Boughtwood T, Otlowski M (2023) Privacy implications of contacting the at-risk relatives of patients with medically actionable genetic predisposition, with patient consent: a hypothetical Australian case study. https://doi.org/10.3390/biotech12020045