ReviewFamilial cancer2014
Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC).
Review in Familial cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- Targeted gene sequencing reveals disparate genomic mutations between young and older adults in renal cell carcinoma.BMC cancer · 2024Article
- Benign metastasizing fumarate hydratase (FH)-deficient uterine leiomyomas: clinicopathological and molecular study with first documentation of multi-organ metastases.Virchows Archiv : an international journal of pathology · 2024Article
- [Clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2021Article
- Article
- Hereditary Leiomyomatosis and Renal Cell Cancer: Recent Insights Into Mechanisms and Systemic Treatment.Frontiers in oncology · 2021Review
- An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance.Acta dermato-venereologica · 2020Article
- Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.Urology case reports · 2020Article
- Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research.Seminars in cancer biology · 2020Review
- Hereditary Leiomyomatosis and Renal Cell Cancer.Acta dermato-venereologica · 2020Article
- Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.Familial cancer · 2020Review
- A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).Familial cancer · 2018Article
- The emerging role and targetability of the TCA cycle in cancer metabolism.Protein & cell · 2018Review
- Genetic anticipation in Swedish Lynch syndrome families.PLoS genetics · 2017Article
- Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.Anais brasileiros de dermatologia · 2017Article
- A Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma.Case reports in dermatological medicine · 2016Article
- Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC).Virchows Archiv : an international journal of pathology · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary leiomyomatosis-renal cell cancer (HLRCC) is an autosomal dominant disorder characterised by cutaneous leiomyomas, symptomatic uterine leiomyomas and aggressive type II papillary renal cell carcinoma. It is caused by heterozygous mutations in the fumarate hydratase (FH) gene on chromosome 1q43. We present evidence of genetic anticipation in HLRCC syndrome. A comprehensive literature review was performed to determine the potential for genetic anticipation in HLRCC syndrome. The normal random effects model was used to evaluate for genetic anticipation to ensure reduction in bias. A total of 11 FH kindreds with available multi-generational data were identified for analysis. The mean difference in age at diagnosis of RCC between the first and second generation was -18.6 years (95 % CI -26.6 to -10.6, p < 0.001). The mean difference in age at diagnosis of RCC between the first and third generation was -36.2 years (95 % CI -47.0 to -25.4, p < 0.001). No evidence of anticipation for uterine leiomyomas was observed (p = 0.349). We report preliminary evidence of genetic anticipation of RCC in HLRCC syndrome. Additional clinical validation is important to confirm this observation, which may have practical implications on counseling and timing of surveillance initiation. Exploration of the underlying mechanisms of anticipation in HLRCC would be of considerable biological interest.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.