NDLI: Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC)

Content Provider	Springer Nature Link
Author	Wong, Mei Hua Tan, Chuen Seng Lee, Soo Chin Yong, Yvonne Ooi, Aik Seng Ngeow, Joanne Tan, Min Han
Copyright Year	2014
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.
Starting Page	281
Ending Page	289
Page Count	9
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	13
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2014-02-14
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Fumarate hydratase Genetic anticipation Krebs cycle Hereditary leiomyomatosis-renal cell carcinoma syndrome Papillary renal cell carcinoma Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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