HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: Challenges and opportunities in genetic counseling for hereditary endocrine neoplasia syndromes.
clinical genetics
genetic counseling
hereditary endocrine disease
multiple endocrine neoplasias
Journal
Endocrine-related cancer
ISSN: 1479-6821
Titre abrégé: Endocr Relat Cancer
Pays: England
ID NLM: 9436481
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
21
02
2020
accepted:
25
02
2020
pubmed:
28
2
2020
medline:
31
8
2021
entrez:
28
2
2020
Statut:
ppublish
Résumé
The Genetic Counseling Working Group from the 16th International Workshop on Multiple Endocrine Neoplasia (MEN 2019) convened to discuss contemporary challenges and opportunities in the area of genetic counseling for individuals and families affected by hereditary endocrine neoplasia syndromes. As healthcare professionals with multidisciplinary training in human genetics, risk assessment, patient education, psychosocial counseling, and research methodology, genetic counselors bring a unique perspective to working toward addressing these challenges and identifying their subsequent opportunities. This Working Group focused on the following broad areas: (1) genetic counseling resources for endocrine neoplasias, (2) candidate gene discovery, (3) implications of increasingly sensitive and expansive genetic testing technologies for both the germline and the tumors, and (4) situating clinical diagnoses for hereditary endocrine neoplasia syndromes in the context of present-day knowledge.
Identifiants
pubmed: 32106089
doi: 10.1530/ERC-19-0454
pii: ERC-19-0454
doi:
pii:
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Review
Langues
eng
Sous-ensembles de citation
IM