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1.
Cell Mol Biol (Noisy-le-grand) ; 50(7): 805-7, 2004 Nov.
Article in English | MEDLINE | ID: mdl-15672464

ABSTRACT

The "Atlas of Genetics and Cytogenetics in Oncology and Haematology" http://www.infobiogen.fr/services/chromcancer is a peer-reviewed and free internet database aimed at genes involved in cancer, cytogenetics and clinical entities in cancer, and cancer-prone diseases. It contains concise and updated review articles, a huge portal towards genetics and/or cancer databases, and teaching materials in genetics for the students. This database is made for and by clinicians and researchers, who are encouraged to contribute. The Atlas is part of the genome project. It provides information in cancer epidemiology. It contributes to research, university and post-university teaching, and telemedicine. It contributes to 'meta-medicine', a mediation using new information technology, between the overflowing information provided by the scientific community and the individual practitioner.


Subject(s)
Chromosome Aberrations , Chromosome Disorders , Databases, Factual , Hematologic Diseases/genetics , Neoplasms/genetics , Cytogenetic Analysis , Humans , Internet , Neoplasms/epidemiology , Translocation, Genetic
4.
Nucleic Acids Res ; 29(1): 303-4, 2001 Jan 01.
Article in English | MEDLINE | ID: mdl-11125120

ABSTRACT

The 'Atlas of Genetics and Cytogenetics in Oncology and Haematology' (http://www.infobiogen.fr/services/chromcancer) is an Internet database aimed at genes involved in cancer, cytogenetics and clinical entities in cancer, and cancer-prone diseases. It presents information in concise and updated reviews (cards) or longer texts (deep insights), a (new) case report section, a huge portal towards genetics and/or cancer databases, and teaching items in genetics for students in medicine and the sciences. This database is made for and by clinicians and researchers in the above-mentioned fields, who are encouraged to contribute. It deals with cancer research, genomics and cytogenomics. It is at the crossroads of research, post-university teaching and telemedicine. The Atlas is available at no cost.


Subject(s)
Chromosome Aberrations , Chromosome Disorders , Databases, Factual , Hematologic Diseases/genetics , Neoplasms/genetics , Humans , Internet
5.
Cancer Genet Cytogenet ; 120(2): 155-9, 2000 Jul 15.
Article in English | MEDLINE | ID: mdl-10942808

ABSTRACT

The "Atlas of Genetics and Cytogenetics in Oncology and Haematology" (URL: http://www.infobiogen.fr/services/chromcancer) is a database devoted to chromosome abnormalities in cancer, cancer-prone diseases, and genes involved in cancer. The information is concise and updated. This database is made for and by cytogeneticists, molecular biologists, clinicians in oncology and hematology, and pathologists, who are encouraged to contribute. The database is herein presented, together with an example concerning congenital leukemias.


Subject(s)
Databases as Topic , Hematologic Diseases/genetics , Internet , Leukemia, Myeloid, Acute/genetics , Neoplasms/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Child, Preschool , Cytogenetic Analysis , Humans , Infant , Infant, Newborn
7.
Nucleic Acids Res ; 28(1): 349-51, 2000 Jan 01.
Article in English | MEDLINE | ID: mdl-10592271

ABSTRACT

The 'Atlas of Genetics and Cytogenetics in Oncology and Haematology' (http://www.infobiogen.fr/services/chromcancer ) is a database devoted to chromosome abnormalities in cancer, cancer-prone diseases and genes involved in cancer. Information presented in each page is concise and updated. This database is made for and by: cytogeneticists, molecular biologists, clinicians in oncology and in haematology, and pathologists, who are encouraged to contribute.


Subject(s)
Databases, Factual , Hematologic Diseases/genetics , Neoplasms/genetics , Chromosome Aberrations , Chromosome Disorders , Humans , Neoplasms/pathology
8.
Nucleic Acids Res ; 27(1): 353-4, 1999 Jan 01.
Article in English | MEDLINE | ID: mdl-9847226

ABSTRACT

The aim of 'Atlas of Genetics and Cytogenetics in Oncology and Haematology' (http://www.infobiogen.fr/services/chromcancer) is to present summarized information on chromosome abnormalities in cancer, with extensions to genes involved in cancer and to cancer-prone diseases. Information is to be updated. This database is made for and by cytogeneticists, molecular biologists, clinicians in oncology and in haematology, and pathologists.


Subject(s)
Chromosome Aberrations , Cytogenetics , Databases, Factual , Neoplasms/genetics , France , Genes/genetics , Humans , Information Storage and Retrieval , Internet , Mutation , Proteins/chemistry , Proteins/classification , Proteins/genetics
9.
Mutat Res ; 397(2): 287-92, 1998 Feb 02.
Article in English | MEDLINE | ID: mdl-9541654

ABSTRACT

The Gorlin syndrome, or naevoid basal-cell carcinoma syndrome (NBCS) is an autosomal dominant cancer prone disease (at risk of multiple basal cell carcinomas, and other malignant or benign proliferations). We have previously reported data from peripheral blood lymphocytes of patients with this condition, showing a significant level of spontaneous chromatid and chromosome rearrangements and an overall lengthening of the cell cycle. In this paper, we confirm this disease to be a chromosome instability syndrome from studies on fibroblasts of 5 patients. Spontaneous chromosomal rearrangements, an increased frequency of sister chromatid exchanges and a slowing of the cell cycle were found, compared to age-matched control material. There was also an increased sensitivity to aberration production by mechlorethamine in patient fibroblasts. The chromosome instability we found was not restricted to a given cell lineage, but appears to be part of the general condition of this syndrome. The recently discovered gene responsible for Gorlin syndrome, PTC (or PTCH), encodes a transmembrane protein with yet poorly known functions. However, the demonstration of Gorlin syndrome as a chromosome instability syndrome suggests that this protein has a role in DNA maintenance, repair and/or replication.


Subject(s)
Basal Cell Nevus Syndrome/genetics , Chromosome Aberrations , Diploidy , Fibroblasts/metabolism , Humans , Sister Chromatid Exchange
11.
Clin Genet ; 49(1): 20-7, 1996 Jan.
Article in English | MEDLINE | ID: mdl-8721567

ABSTRACT

We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome. Down syndromes with a partial duplication of chromosome 21 (as well as cases of del (21q), which are partly the phenotypic countertype of trisomy 21) are of paramount importance in the understanding of genes involved in the phenotype of Down syndrome. The goal is to find the relevant genes implicated in the main traits of Down syndrome (i.e. mental retardation, Alzheimer disease, and serious visceral malformations). Such a goal, in our opinion, cannot be reached just by publishing the genotype and the phenotype of a small cohort of patients: 1. a sufficient number of accurate cases is needed, and 2. data have to be computerized for definite conclusions to be reached. The main aims of this report are to present our study protocol and to invite colleagues to participate in a collaborative study in order to collect a maximum of these (rare) cases.


Subject(s)
Chromosomes, Human, Pair 21 , Down Syndrome/genetics , Gene Deletion , Multigene Family , Adolescent , Adult , Child , Child, Preschool , Clinical Protocols , Down Syndrome/pathology , Down Syndrome/physiopathology , Female , Follow-Up Studies , Humans , International Cooperation , Karyotyping , Male , Middle Aged , Phenotype
12.
Mutat Res ; 332(1-2): 27-32, 1995 Nov.
Article in English | MEDLINE | ID: mdl-7500988

ABSTRACT

The Gorlin syndrome, or naevoid basal-cell carcinoma syndrome (NBCS) is an autosomal dominant disease. It has been suspected for long that this cancer prone disease (multiple basal-cell carcinomas; other malignant or benign proliferations) is a chromosome instability syndrome. We previously reported a lengthening in the cell cycle of lymphocytes from two patients with NBCS. With a larger sample (n = 7), we confirm this disease to be a chromosome instability syndrome, although clearly, expression of this characteristic can vary between patients: (1) spontaneous chromatid breaks occurred more often in a subset of the patients; (2) spontaneous micronuclei were found more frequently in NBCS than in the controls; (3) we confirm the cell cycle to be affected in this disease. As these results were obtained on lymphocytes--a cell lineage not affected in NBCS manifestations--the chromosome instability we found would appear to be part of the general condition of this syndrome.


Subject(s)
Basal Cell Nevus Syndrome/genetics , Chromosome Aberrations , Lymphocytes/pathology , Sister Chromatid Exchange , Adult , Basal Cell Nevus Syndrome/pathology , Cell Cycle/genetics , Female , Humans , Lymphocytes/ultrastructure , Male , Micronucleus Tests , Middle Aged
13.
Clin Genet ; 48(3): 140-7, 1995 Sep.
Article in English | MEDLINE | ID: mdl-8556821

ABSTRACT

We report on two cases of partial monosomy 21 and review cases with a partial or an apparently full monosomy 21. In situ hybridization and/or molecular studies appear to be necessary tools to study imbalance in such a small chromosome and to perform further genotype-phenotype correlations. The segregation mode in cases with a translocation is adjacent 1, adjacent 2, and 3:1 in about 1/4, 1/4 and 1/2 of the cases, respectively.


Subject(s)
Chromosomes, Human, Pair 21 , Monosomy , Child, Preschool , Female , Gene Dosage , Humans , Karyotyping , Male
14.
Leukemia ; 9(1): 102-6, 1995 Jan.
Article in English | MEDLINE | ID: mdl-7845002

ABSTRACT

Fourteen cases of dic(9;12)(p11-13;p11-12) in early B-lineage acute lymphoblastic leukemia (ALL) and other hematological malignancies are reported with a review of the literature. Altogether 36 cases were collected for analysis: ALL at diagnosis (31 cases) or in relapse (one case), chronic myeloid leukemia in lymphoid blast crisis (two cases), T-cell lymphoblastic lymphoma (one case) and T-cell non-Hodgkin's lymphoma (one case). We report the first cases of dic(9;12) with a T-cell phenotype. Dic(9;12) occurs predominantly in B-progenitor ALL of childhood and young adults (age range, 1-47 years, median 12 years) but not of infancy. One or more adverse clinical features, age > 10 years, WBC > 100 x 10(9)/l, pre-B immunophenotype, platelets < 100 x 10(9)/l, were found in over 90% of cases. Additional structural chromosomal changes or trisomy 8 were frequently present. Nevertheless with a median follow-up of 5 years, 29/31 cases (94%) remain in first remission conferring an excellent prognosis to this leukemia. Additional cases are being sought to confirm the prognostic value of this cytogenetic aberration in various hematological malignancies.


Subject(s)
Chromosomes, Human, Pair 12 , Chromosomes, Human, Pair 9 , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Translocation, Genetic , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Prognosis
15.
Mutat Res ; 308(1): 1-9, 1994 Jul 01.
Article in English | MEDLINE | ID: mdl-7516477

ABSTRACT

The naevoid basal-cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with multiple basal-cell carcinomas, an increased risk for other neoplasms, and various malformations. Chromosome instability has been implicated in the pathogenesis of this syndrome, but these reports are somewhat contradictory. We have investigated five patients, two with confirmed NBCCS and three suspected. No evidence for chromosome instability was found in lymphocytes at three sample times after stimulation using metaphase aberration analysis, sister-chromatid exchange (SCE) in second division cells, or micronuclei. A significant lengthening of the cell cycle was found for the two confirmed NBCCS patients, but not for the suspected cases.


Subject(s)
Basal Cell Nevus Syndrome/genetics , Chromosome Aberrations , Skin Neoplasms/genetics , Adolescent , Adult , Cell Cycle , Female , Humans , Male , Micronucleus Tests , Middle Aged , Sister Chromatid Exchange
16.
Br J Haematol ; 86(4): 780-5, 1994 Apr.
Article in English | MEDLINE | ID: mdl-7918072

ABSTRACT

Cytogenetic abnormalities found in four cases of T-cell prolymphocytic leukaemia (T-PLL) are described. An isochromosome 8q was found in three patients and a t(8;8) in one. In the four cases, karyotypes were complex and showed a high degree of instability. In addition, we reviewed 27 published cases of cytogenetically studied T-PLL. On the whole, the most frequently recurring anomalies in T-PLL are 14q lesions with nonrandom breakpoints, inversion (14)(q11q32) or tandem translocations (14;14) (not seen in any of our cases) and trisomy for 8q. mainly due to i(8q), found in more than 40% of patients each. Similar structural anomalies were found almost as frequently among the 23 cytogenetically studied cases of so-called T-chronic lymphocytic leukaemia (T-CLL) reported prior to 1989. It is now accepted that the T-cell counterpart of B-CLL either does not exist or is exceedingly rare and thus previously reported cases of T-CLL sharing the chromosomal characteristics of T-PLL may well have been misdiagnosed examples of T-PLL. Isochromosomes 8q are exceptionally found in other types of haematological malignancies. However, i(8q) could not be shown to be the primary lesion in any case in T-PLL and the role of trisomy for 8q, as well of the associated monosomy 8p, is entirely unknown.


Subject(s)
Chromosomes, Human, Pair 8 , Leukemia, Prolymphocytic/genetics , Leukemia, T-Cell/genetics , Trisomy , Adult , Aged , Aged, 80 and over , Antigens, Neoplasm/analysis , Antigens, Surface/analysis , Chromosome Aberrations , Female , Humans , Karyotyping , Leukemia, Prolymphocytic/immunology , Leukemia, T-Cell/immunology , Male , Middle Aged
18.
Leukemia ; 7(2): 152-60, 1993 Feb.
Article in English | MEDLINE | ID: mdl-8426468

ABSTRACT

We report on 16 cases of t(11;19) acute leukemia and review data of published observations: altogether updated data of 48 patients are analyzed. Four hematological groups could be distinguished: (i) 13 cases of acute lymphoblastic leukemia (ALL) of B lineage, mostly CD19+; (ii) eight cases of biphenotypic leukemia: CD19+ (most often) ALL but with simultaneous or inducible expression of differentiation marker of monocytic lineage. The B lineage and biphenotypic leukemias were predominantly found in female infants; (iii) four cases of T-ALL in children; and (iv) 23 acute non-lymphocytic leukemia (ANLL) cases generally of M4 or M5 subtype, predominantly in males. Cytogenetically, at least two subtypes were observed with possibly an identical breakpoint on 11q23 but discrete breakpoints on 19p: lymphoid, biphenotypic, and most congenital myeloid cases showed a distal breakpoint on 19p13 producing 11q- and 19p+ derivatives, while most older myeloid cases showed 11q+ and 19p- derivatives as a result of a more proximal breakpoint on 19p12 or p13.1. The latter type was clearly detected using R bands but barely visible using Q or G bands while the other translocation was easy to detect with G bands but could be missed with R bands. The white blood cell count is usually high in these t(11;19) acute leukemias and prognosis is poor, except for T-ALL cases.


Subject(s)
Chromosomes, Human, Pair 11 , Chromosomes, Human, Pair 19 , Leukemia, B-Cell/genetics , Leukemia, Myeloid, Acute/genetics , Leukemia, T-Cell/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Translocation, Genetic/genetics , Adolescent , Aged , Child , Chromosome Banding , Female , Humans , Infant , Infant, Newborn , Karyotyping , Leukemia, B-Cell/blood , Leukemia, Myeloid, Acute/blood , Leukemia, T-Cell/blood , Male , Middle Aged , Precursor Cell Lymphoblastic Leukemia-Lymphoma/blood , Prognosis
19.
Am J Med Genet ; 43(3): 621-5, 1992 Jun 01.
Article in English | MEDLINE | ID: mdl-1605261

ABSTRACT

We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3:1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random.


Subject(s)
Chromosomes, Human, Pair 16 , Translocation, Genetic/genetics , Trisomy , Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 21 , Female , Humans , Infant, Newborn
20.
Leuk Res ; 16(5): 537-40, 1992.
Article in English | MEDLINE | ID: mdl-1625480

ABSTRACT

We report on four cases of trisomy 14 as the sole anomaly. Three cases were myelodysplastic syndromes and one was a non-Hodgkin's lymphoma. This anomaly is mainly in myeloid disorders and still remains to be well documented. On the other hand, we show this anomaly to be also a non-random anomaly in lymphoproliferative disorders.


Subject(s)
Anemia, Refractory/genetics , Chromosomes, Human, Pair 14 , Leukemia, Myeloid, Acute/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Trisomy , Aged , Aged, 80 and over , Anemia, Refractory, with Excess of Blasts/genetics , Humans , Male , Middle Aged
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