Cargando…
Benign Tumors Associated With Heterozygous NTHL1 Variant
NTHL1 is a tumor suppressor gene involved in base excision repair. It is associated with an increased risk for colorectal and breast cancer when two variant gene copies are inherited. However, inheriting one variant NTHL1 copy is not associated with increased tumor risk. Genetic counselors report he...
Autores principales: | Anderson, Danyon J, Boyle, Andrew, Reinicke, Trenton, Woods, Bison, Hsieh, Patrick |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8341199/ https://www.ncbi.nlm.nih.gov/pubmed/34367820 http://dx.doi.org/10.7759/cureus.16220 |
Ejemplares similares
-
Second Case of Tumors Associated With Heterozygous NTHL1 Variant
por: Anderson, Danyon J, et al.
Publicado: (2022) -
A Network of Anomalies Prompting VACTERL Workup in a Trisomy 21 Newborn
por: Reinicke, Trenton, et al.
Publicado: (2022) -
Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome
por: Pinto, Carla, et al.
Publicado: (2023) -
A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis
por: Altaraihi, Mays, et al.
Publicado: (2019) -
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
por: Li, Na, et al.
Publicado: (2021)