Risk assessment and genetic counseling for Lynch syndrome - Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer.
BRAF
Lynch syndrome
MLH1 methylation
colorectal neoplasms
germline testing
hereditary non-polyposis colorectal cancer
immunohistochemistry
microsatellite instability
mismatch repair
tumor genomic profiling
uterine neoplasms
Journal
Journal of genetic counseling
ISSN: 1573-3599
Titre abrégé: J Genet Couns
Pays: United States
ID NLM: 9206865
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
revised:
17
12
2021
received:
21
04
2021
accepted:
18
12
2021
pubmed:
11
1
2022
medline:
22
6
2022
entrez:
10
1
2022
Statut:
ppublish
Résumé
Identifying individuals who have Lynch syndrome involves a complex diagnostic workup that includes taking a detailed family history and a combination of various tests such as immunohistochemistry and/or molecular which may be germline and/or somatic. The National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer have come together to publish this practice resource for the evaluation of Lynch syndrome. The purpose of this practice resource was to provide guidance and a testing algorithm for Lynch syndrome as well as recommendations on when to offer testing. This practice resource does not replace a consultation with a genetics professional. This practice resource includes explanations in support of this and a summary of background data. While this practice resource is not intended to serve as a review of Lynch syndrome, it includes a discussion of background information and cites a number of key publications which should be reviewed for a more in-depth understanding. This practice resource is intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses, and other healthcare providers who evaluate patients for Lynch syndrome.
Substances chimiques
MutL Protein Homolog 1
EC 3.6.1.3
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
568-583Informations de copyright
© 2022 National Society of Genetic Counselors.
Références
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