The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice

Following the identification in a proband of a germline BRCA1 / BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing. However, i...

Celý popis

Uložené v:
Podrobná bibliografia
Vydané v:Familial cancer Ročník 18; číslo 1; s. 127 - 135
Hlavní autori: Menko, Fred H, ter Stege, Jacqueline A, van der Kolk, Lizet E, Jeanson, Kiki N, Schats, Winnie, Moha, Daoud Ait, Bleiker, Eveline M A
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: Dordrecht Springer Netherlands 01.01.2019
Springer Nature B.V
Predmet:
Biomedical and Life Sciences
Biomedicine
BRCA1 protein
BRCA1 Protein - genetics
BRCA2 protein
BRCA2 Protein - genetics
Breast
Breast cancer
Cancer Research
Clinical medicine
Colorectal cancer
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
Colorectal Neoplasms, Hereditary Nonpolyposis - prevention & control
DNA repair
Early Detection of Cancer - methods
Early Detection of Cancer - statistics & numerical data
Epidemiology
Family
Female
Genetic disorders
Genetic Predisposition to Disease
Genetic screening
Genetic Testing - statistics & numerical data
Health Services Needs and Demand - statistics & numerical data
Hereditary Breast and Ovarian Cancer Syndrome - diagnosis
Hereditary Breast and Ovarian Cancer Syndrome - genetics
Hereditary Breast and Ovarian Cancer Syndrome - prevention & control
Human Genetics
Humans
Information processing
Literature reviews
Mismatch repair
Mutation
Ovarian cancer
Patient Acceptance of Health Care - statistics & numerical data
Pedigree
Point mutation
Review
Hereditary breast-ovarian cancer
Informing family members
Duty to warn
Direct contact
Presymptomatic genetic testing
Cascade screening
Lynch syndrome
ISSN:1389-9600, 1573-7292, 1573-7292
On-line prístup:Získať plný text
Tagy: Pridať tag
Žiadne tagy, Buďte prvý, kto otaguje tento záznam!
Popis
Shrnutí:Following the identification in a proband of a germline BRCA1 / BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing. However, in clinical practice multiple factors may complicate the process of information sharing. We critically evaluated studies on the uptake of presymptomatic genetic testing in both syndromes. A search of relevant MeSH terms and key words in PubMed, Embase and PsycINFO yielded 795 articles published between 2001 and 2017. Thirty of these publications included outcome measures relevant for the current study. Based on information provided by the proband (15 studies) the uptake of presymptomatic genetic testing ranged from 15 to 57% in HBOC, while one study in LS kindreds reported an uptake of 70%. Based on information provided by genetics centres (the remaining 15 studies) the uptake ranged from 21 to 44% in HBOC and from 41 to 94% in LS. However, when genetics centres contacted relatives directly a substantial number of additional family members could be tested. Proband-mediated provision of information to at-risk relatives is a standard procedure in hereditary breast-ovarian cancer and Lynch syndrome. However, the resulting uptake of presymptomatic testing is disappointing—an issue that is now urgent due to the increased use of genetic testing in clinical oncology. We propose that additional strategies should be introduced including the geneticist directly contacting relatives. The outcomes of these strategies should be carefully monitored and evaluated.
Bibliografia:ObjectType-Article-1
ObjectType-Evidence Based Healthcare-3
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
content type line 23
ObjectType-Undefined-3
ISSN:1389-9600
1573-7292
1573-7292
DOI:10.1007/s10689-018-0089-z