Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1) View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2002-11-13

AUTHORS

Bárbara Meléndez, Sandra Rodríguez-Perales, Beatriz Martínez-Delgado, Ignacio Otero, Mercedes Robledo, Angel Martínez-Ramírez, Sergio Ruiz-Llorente, Miguel Urioste, Juan Cruz Cigudosa, Javier Benítez

ABSTRACT

. An alternative model has been proposed for the development of clear-cell renal cell carcinoma (RCC) in families where chromosome 3 translocations segregate with the disease. In this model, the existence of a translocation involving chromosome 3 would favour the non-disjunctional loss of the derivative chromosome carrying the 3p segment. Additionally, subsequent somatic mutations in the VLH gene, located in 3p25–26, would inactivate this tumour suppressor gene. In the present work, we describe a new family with two clear-cell RCC affected members and a t(3;8)(p13;q24.1) translocation in two consecutive generations. We observed loss of the derivative chromosome carrying the 3p segment (der(8)) and somatic mutation of the VHL gene in the left-kidney tumoral tissue of the proband. His right-kidney tumour carried a different VHL mutation and loss of heterozygosity (LOH) was not detected. The mother of the proband was also clear-cell RCC-affected but the tumoral tissue analysed did not carry any VHL gene mutations. Another member of the family, a maternal aunt, had a papillary RCC and did not carry this translocation, the LOH on 3p or the VHL somatic mutations. Haplotype analysis of the three affected members revealed that they did not inherit a common region on 3p, confirming the different genetic origin of both tumour types. Finally, the presence of RCC in other non-available members of the family highlights the overall risk for RCC in families with chromosome 3 translocations. In the present work, we have confirmed the proposed mechanism for the development of clear-cell RCC in this family, although we cannot discard the existence of other genes, in addition to VHL, being involved in hereditary RCC. More... »

PAGES

178-185

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-002-0848-6

DOI

http://dx.doi.org/10.1007/s00439-002-0848-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1075216135

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12522559


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37 schema:description Abstract. An alternative model has been proposed for the development of clear-cell renal cell carcinoma (RCC) in families where chromosome 3 translocations segregate with the disease. In this model, the existence of a translocation involving chromosome 3 would favour the non-disjunctional loss of the derivative chromosome carrying the 3p segment. Additionally, subsequent somatic mutations in the VLH gene, located in 3p25–26, would inactivate this tumour suppressor gene. In the present work, we describe a new family with two clear-cell RCC affected members and a t(3;8)(p13;q24.1) translocation in two consecutive generations. We observed loss of the derivative chromosome carrying the 3p segment (der(8)) and somatic mutation of the VHL gene in the left-kidney tumoral tissue of the proband. His right-kidney tumour carried a different VHL mutation and loss of heterozygosity (LOH) was not detected. The mother of the proband was also clear-cell RCC-affected but the tumoral tissue analysed did not carry any VHL gene mutations. Another member of the family, a maternal aunt, had a papillary RCC and did not carry this translocation, the LOH on 3p or the VHL somatic mutations. Haplotype analysis of the three affected members revealed that they did not inherit a common region on 3p, confirming the different genetic origin of both tumour types. Finally, the presence of RCC in other non-available members of the family highlights the overall risk for RCC in families with chromosome 3 translocations. In the present work, we have confirmed the proposed mechanism for the development of clear-cell RCC in this family, although we cannot discard the existence of other genes, in addition to VHL, being involved in hereditary RCC.
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45 VHL gene
46 VHL gene mutations
47 VHL mutations
48 addition
49 alternative models
50 analysis
51 aunt
52 carcinoma
53 cell carcinoma
54 chromosomes
55 clear cell renal cell carcinoma
56 common region
57 consecutive generations
58 derivative chromosomes
59 development
60 different VHL mutations
61 different genetic origins
62 disease
63 existence
64 family
65 gene mutations
66 generation
67 genes
68 genetic origin
69 haplotype analysis
70 hereditary renal cell carcinoma
71 heterozygosity
72 loss
73 loss of heterozygosity
74 maternal aunt
75 mechanism
76 members
77 model
78 molecular studies
79 mothers
80 mutations
81 new family
82 origin
83 overall risk
84 papillary renal cell carcinoma
85 presence
86 presence of RCC
87 present work
88 probands
89 region
90 renal cell carcinoma
91 right kidney tumor
92 risk
93 segments
94 somatic mutations
95 study
96 subsequent somatic mutation
97 suppressor gene
98 tissue
99 translocation
100 tumor suppressor gene
101 tumor types
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