Previous cytogenetic/FISH data have demonstrated 1p36 deletions in a relapsing familial clivus chordoma developed by a patient who has 2 daughters, respectively affected with childhood astrocytoma and clivus chordoma. Using an approach that combined the LOH (loss of heterozygosity) study of the father chordoma and the daughter astrocytoma and a segregation analysis from parents to sibs using 17 CA-repeats spanning 1p36.32-1p36.11, we mapped the cancer susceptibility locus in this family to the 1p36 region. The LOH and haplotype information was elaborated using a pairwise linkage analysis that gave a maximum lod score of 1.2. Additional LOH data relating to 6 sporadic chordomas allowed us to define an SRO (the smallest region of overlapping loss) of about 25 cM from D1S2845 (1p36.31) to D1S2728 (1p36.13). Our overall findings converge on mapping to 1p36 a tumor-suppressor gene involved in familial and sporadic chordoma.

A tumor suppressor locus in familial and sporadic chordoma maps to 1p36 / M. Miozzo, L. Dalprà, P. Riva, M. Volontè, F. Macciardi, S. Pericotti, M. G. Tibiletti, M. Cerati, K. Rohde, L. Larizza, A. M. Fuhrman Conti. - In: INTERNATIONAL JOURNAL OF CANCER. - ISSN 0020-7136. - 87:1(2000 Jul 01), pp. 68-72.

A tumor suppressor locus in familial and sporadic chordoma maps to 1p36

M. Miozzo
Primo
;
P. Riva;M. Volontè;F. Macciardi;L. Larizza
Penultimo
;
A. M. Fuhrman Conti
2000-07-01

Abstract

Previous cytogenetic/FISH data have demonstrated 1p36 deletions in a relapsing familial clivus chordoma developed by a patient who has 2 daughters, respectively affected with childhood astrocytoma and clivus chordoma. Using an approach that combined the LOH (loss of heterozygosity) study of the father chordoma and the daughter astrocytoma and a segregation analysis from parents to sibs using 17 CA-repeats spanning 1p36.32-1p36.11, we mapped the cancer susceptibility locus in this family to the 1p36 region. The LOH and haplotype information was elaborated using a pairwise linkage analysis that gave a maximum lod score of 1.2. Additional LOH data relating to 6 sporadic chordomas allowed us to define an SRO (the smallest region of overlapping loss) of about 25 cM from D1S2845 (1p36.31) to D1S2728 (1p36.13). Our overall findings converge on mapping to 1p36 a tumor-suppressor gene involved in familial and sporadic chordoma.
Pedigree; Genetic Linkage; Dinucleotide Repeats; Astrocytoma; Genes, Tumor Suppressor; Humans; Cranial Fossa, Posterior; Genetic Markers; Child; Chordoma; Chromosome Mapping; Child, Preschool; Chromosomes, Human, Pair 1; Brain Neoplasms; Cerebellar Neoplasms; Loss of Heterozygosity; Haplotypes; Adult; Male; Female
Settore MED/03 - Genetica Medica
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/184602
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