Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Germline pathogenic variants in TP53 are associated with Li‐Fraumeni syndrome, a cancer
predisposition disorder inherited in an autosomal dominant pattern associated with a high …
predisposition disorder inherited in an autosomal dominant pattern associated with a high …
Cancer incidence, patterns, and genotype–phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort …
KC de Andrade, PP Khincha, JN Hatton… - The lancet …, 2021 - thelancet.com
Summary Background Li-Fraumeni syndrome, caused primarily by pathogenic or likely
pathogenic germline TP53 variants, is a rare, variably penetrant, cancer predisposition …
pathogenic germline TP53 variants, is a rare, variably penetrant, cancer predisposition …
Update on Li-Fraumeni syndrome
CM Dutzmann, J Vogel, CP Kratz, KW Pajtler… - Der Pathologe, 2019 - Springer
Zusammenfassung Das Li-Fraumeni-Syndrom (LFS;„Online Mendelian Inheritance in Man “,
OMIM# 151623) gilt als eines der aggressivsten derzeit bekannten …
OMIM# 151623) gilt als eines der aggressivsten derzeit bekannten …
Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey
N Rippinger, C Fischer, MW Haun, K Rhiem, S Grill… - Cancer, 2020 - Wiley Online Library
Background Li‐Fraumeni syndrome (LFS) is a high‐risk cancer predisposition syndrome
caused by pathogenic germline variants of TP53. Cancer surveillance has noted a …
caused by pathogenic germline variants of TP53. Cancer surveillance has noted a …
Psychosocial interventions and needs among individuals and families with Li‐Fraumeni syndrome: a scoping review
M Barnett, KE Breen, JA Kennedy… - Clinical …, 2022 - Wiley Online Library
Abstract Li‐Fraumeni syndrome (LFS), a rare cancer predisposition syndrome caused by
germline mutations in the TP53 gene, is associated with significant lifetime risk of …
germline mutations in the TP53 gene, is associated with significant lifetime risk of …
Health behavior and cancer prevention among adults with Li-Fraumeni syndrome and relatives in Germany—a cohort description
J Nees, S Kiermeier, F Struewe, M Keymling… - Current …, 2022 - mdpi.com
Li-Fraumeni-syndrome (LFS) is a rare, highly penetrant cancer predisposition syndrome
(CPS) caused by pathogenic variants (PVs) in TP53. Physical activity (PA) and a …
(CPS) caused by pathogenic variants (PVs) in TP53. Physical activity (PA) and a …
Family communication challenges of adolescents and young adults with Li-Fraumeni syndrome: Implications for psychosocial care
Objectives This qualitative-descriptive study explored adolescent and young adult (AYA)
perspectives, experiences, and challenges with openness and closedness in family …
perspectives, experiences, and challenges with openness and closedness in family …
Family health leaders: lessons on living with Li‐Fraumeni syndrome across generations
A Pantaleao, JL Young, NB Epstein, M Carlson… - Family …, 2020 - Wiley Online Library
Li‐Fraumeni Syndrome (LFS) is a hereditary disorder that confers an approximately 90%
lifetime risk of cancer and requires comprehensive lifetime cancer screening. We explored …
lifetime risk of cancer and requires comprehensive lifetime cancer screening. We explored …
Family identity and roles in the context of Li-Fraumeni syndrome:“No one's like us mutants”
Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome in which individuals have
a significantly increased risk of developing multiple cancers throughout the life span. An LFS …
a significantly increased risk of developing multiple cancers throughout the life span. An LFS …
[HTML][HTML] The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis
E Pearce, H Raj, N Emezienna, MB Gilkey… - JMIR …, 2024 - infodemiology.jmir.org
Background: Social media has the potential to provide social support for rare disease
communities; however, little is known about the use of social media for the expression of …
communities; however, little is known about the use of social media for the expression of …