Cargando…

Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals

Germline TP53 mutations are associated with an increased risk of early-onset breast cancer. Traditionally, it was not standard practice to offer TP53 genetic testing due to the low mutation detection rate and limited options regarding preventive screening. Recent guidelines recommend that all women...

Descripción completa

Detalles Bibliográficos
Autores principales: Bakhuizen, J. J., Velthuizen, M. E., Stehouwer, S., Bleiker, E. M., Ausems, M. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449299/
https://www.ncbi.nlm.nih.gov/pubmed/30238178
http://dx.doi.org/10.1007/s10689-018-0103-5
_version_ 1783408813612728320
author Bakhuizen, J. J.
Velthuizen, M. E.
Stehouwer, S.
Bleiker, E. M.
Ausems, M. G.
author_facet Bakhuizen, J. J.
Velthuizen, M. E.
Stehouwer, S.
Bleiker, E. M.
Ausems, M. G.
author_sort Bakhuizen, J. J.
collection PubMed
description Germline TP53 mutations are associated with an increased risk of early-onset breast cancer. Traditionally, it was not standard practice to offer TP53 genetic testing due to the low mutation detection rate and limited options regarding preventive screening. Recent guidelines recommend that all women diagnosed with breast cancer before the age of 31, irrespective of family history, should be offered TP53 genetic testing. This study aims to gain more knowledge on the attitudes and experiences among genetics professionals regarding the timing and content of genetic counselling of young breast cancer patients for Li–Fraumeni syndrome (LFS). We conducted a nationwide online survey among genetics professionals who provide cancer genetic counselling in the Netherlands. Fifty-seven professionals completed the questionnaire (response rate overall 54%, clinical geneticists 70%). Most respondents reported that they discuss the option of TP53 genetic testing—simultaneously with BRCA 1/2—during the initial counselling visit, especially in case of referral for treatment-focused genetic counselling. There was a general consensus about ten information items that should be discussed during counselling. Sixty-one percent of genetics professionals did not encounter difficulties in providing genetic counselling for LFS, but a substantial minority (29%) did. This study offers valuable insight, which will be useful for clinical practice. Studies which address young breast cancer patients’ attitudes and preferences regarding the timing and content of counselling are warranted to further determine the most appropriate genetic counselling strategy for these women.
format Online
Article
Text
id pubmed-6449299
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Springer Netherlands
record_format MEDLINE/PubMed
spelling pubmed-64492992019-04-17 Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals Bakhuizen, J. J. Velthuizen, M. E. Stehouwer, S. Bleiker, E. M. Ausems, M. G. Fam Cancer Original Article Germline TP53 mutations are associated with an increased risk of early-onset breast cancer. Traditionally, it was not standard practice to offer TP53 genetic testing due to the low mutation detection rate and limited options regarding preventive screening. Recent guidelines recommend that all women diagnosed with breast cancer before the age of 31, irrespective of family history, should be offered TP53 genetic testing. This study aims to gain more knowledge on the attitudes and experiences among genetics professionals regarding the timing and content of genetic counselling of young breast cancer patients for Li–Fraumeni syndrome (LFS). We conducted a nationwide online survey among genetics professionals who provide cancer genetic counselling in the Netherlands. Fifty-seven professionals completed the questionnaire (response rate overall 54%, clinical geneticists 70%). Most respondents reported that they discuss the option of TP53 genetic testing—simultaneously with BRCA 1/2—during the initial counselling visit, especially in case of referral for treatment-focused genetic counselling. There was a general consensus about ten information items that should be discussed during counselling. Sixty-one percent of genetics professionals did not encounter difficulties in providing genetic counselling for LFS, but a substantial minority (29%) did. This study offers valuable insight, which will be useful for clinical practice. Studies which address young breast cancer patients’ attitudes and preferences regarding the timing and content of counselling are warranted to further determine the most appropriate genetic counselling strategy for these women. Springer Netherlands 2018-09-20 2019 /pmc/articles/PMC6449299/ /pubmed/30238178 http://dx.doi.org/10.1007/s10689-018-0103-5 Text en © The Author(s) 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Original Article
Bakhuizen, J. J.
Velthuizen, M. E.
Stehouwer, S.
Bleiker, E. M.
Ausems, M. G.
Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
title Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
title_full Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
title_fullStr Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
title_full_unstemmed Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
title_short Genetic counselling of young women with breast cancer for Li–Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
title_sort genetic counselling of young women with breast cancer for li–fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449299/
https://www.ncbi.nlm.nih.gov/pubmed/30238178
http://dx.doi.org/10.1007/s10689-018-0103-5
work_keys_str_mv AT bakhuizenjj geneticcounsellingofyoungwomenwithbreastcancerforlifraumenisyndromeanationwidesurveyontheexperiencesandattitudesofgeneticsprofessionals
AT velthuizenme geneticcounsellingofyoungwomenwithbreastcancerforlifraumenisyndromeanationwidesurveyontheexperiencesandattitudesofgeneticsprofessionals
AT stehouwers geneticcounsellingofyoungwomenwithbreastcancerforlifraumenisyndromeanationwidesurveyontheexperiencesandattitudesofgeneticsprofessionals
AT bleikerem geneticcounsellingofyoungwomenwithbreastcancerforlifraumenisyndromeanationwidesurveyontheexperiencesandattitudesofgeneticsprofessionals
AT ausemsmg geneticcounsellingofyoungwomenwithbreastcancerforlifraumenisyndromeanationwidesurveyontheexperiencesandattitudesofgeneticsprofessionals