C. Verellen-Dumoulin - Academia.edu (original) (raw)
Papers by C. Verellen-Dumoulin
Bulletin Et Memoires De L Academie Royale De Medecine De Belgique, 2000
Le cancer colorectal est la deuxieme cause de mortalite en Europe occidentale. Notre lecture a po... more Le cancer colorectal est la deuxieme cause de mortalite en Europe occidentale. Notre lecture a pour but de decrire les progres genetiques recents et leur implication dans les mecanismes de la carcinogenese colorectale, ainsi que leurs consequences dans la prise en charge therapeutique et dans les mesures de prevention du cancer colorectal hereditaire non polyposique, ou syndrome HNPCC. L'histoire familiale et les signes cliniques, coliques et extracoliques, qui permettent de suspecter ce syndrome autosomique dominant, sont presentes (criteres d'Amsterdam revus, et ceux de Bethesda). Les six principaux genes MLH1, MSH2, MSH6, PMS2, PMS3 et MSH3, responsables du syndrome HNPCC, sont directement impliques dans le systeme de reparation des mesappariements des bases nucleotidiques, lors de la replication de l'ADN a chaque cycle cellulaire. Un defaut constitutif d'un de ces genes, suivi de la perte de fonction de l'allele homologue, est responsable du phenotype mutateur des tumeurs, qui se manifeste par des variations de taille de sequences repetitives que sont les microsatellites, et par une perte d'expression de proteine specifique au gene implique. Afin de donner une information precise aux cliniciens et aux patients concernes, et en l'absence de criteres absolus de diagnostic du syndrome HNPCC, nous avons developpe, depuis septembre 1998, une strategie de diagnostic genetique du syndrome et de recherche de la mutation responsable pour les deux principaux genes MLH1 et MSH2. Pour les patients, le diagnostic genetique pourrait modifier la prise en charge chirurgicale et le traitement medical, et dans les familles a risque, le diagnostic genetique predictif devrait contribuer tres positivement a la prevention du cancer ».
PloS one, 2018
Surveillance of congenital anomalies is important to identify potential teratogens. This study an... more Surveillance of congenital anomalies is important to identify potential teratogens. This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing. The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are u...
European Journal of Human Genetics, 2014
The Journal of Rheumatology, 2011
Objective.To compare the distribution of congenital anomalies within the VACTERL association (ver... more Objective.To compare the distribution of congenital anomalies within the VACTERL association (vertebral defects, anal atresia, cardiac, tracheoesophageal, renal, and limb abnormalities) between patients exposed to tumor necrosis factor-α (TNF-α) antagonist and the general population.Methods.Analysis for comparison of proportional differences to a previous publication between anomaly subgroups, according to subgroup definitions of the European Surveillance of Congenital Anomalies (EUROCAT), a population-based database.Results.Most EUROCAT subgroups belonging to the VACTERL association contained only one or 2 records of TNF-α antagonist exposure, so comparison of proportions was imprecise. Only the category “limb abnormalities” showed a significantly higher proportion in the general population.Conclusion.The high number of congenital anomalies belonging to the VACTERL association from a report of pregnancies exposed to TNF-α antagonists could not be confirmed using a population-based ...
Annales de chirurgie de la main et du membre supérieur : organe officiel des sociétés de chirurgie de la main = Annals of hand and upper limb surgery, 1992
The trismus pseudocamptodactyly syndrome also called Hecht syndrome or Dutch-Kentucky syndrome is... more The trismus pseudocamptodactyly syndrome also called Hecht syndrome or Dutch-Kentucky syndrome is characterized by loss of the ability to fully open the mouth (trismus) and a finger contracture with progressive flexion of the fingers upon extension of the wrist (pseudocamptodactyly). Deformities of the foot may be associated e.g. hammer and claw toes, tightening of the muscles of the posterior part of the leg producing an equinovarus foot. The authors presents two affected individuals from one family from which nine members had some involvement. The expression of the syndrome may vary. The pattern of the finger contracture is specific. The inheritance is autosomal dominant.
Cancer Genetics and Cytogenetics, 2001
We report on three cases, two with myelodysplastic syndrome (MDS) and one with acute lymphoblasti... more We report on three cases, two with myelodysplastic syndrome (MDS) and one with acute lymphoblastic leukemia (ALL), displaying trisomy 16 as the sole cytogenetic anomaly. In none of these cases was a concomitant inv(16)(p13q22) detected by fluorescence in situ hybridization (FISH) or reverse transcription polymerase chain reaction (RT-PCR). Summarizing the literature, only six other cases cytogenetically characterized by an isolated trisomy 16 have been reported in hematological malignancies. These patients had either MDS, acute myeloblastic leukemia (AML), myelofibrosis, or ALL. All but one of these cases were aged less than 50.
Cancer Genetics and Cytogenetics, 2007
A retrospective cytogenetic study of acute myeloid leukemias (AML) and myelodysplastic syndromes ... more A retrospective cytogenetic study of acute myeloid leukemias (AML) and myelodysplastic syndromes (MDS) was conducted by the Groupe Francophone de Cytogénétique Hématologique (GFCH) to evaluate the structural abnormalities of chromosome 5 associated with other chromosomal abnormalities, in particular of chromosome 7, in these pathologies. In all, 110 cases of AML/MDS were recruited based on the presence of chromosome 5 abnormalities under conventional cytogenetics and supplemented by a systematic fluorescence in situ hybridization study of chromosomes 5 and 7. The abnormalities of the long arm of chromosome 5 (5q) were deletions of various sizes and sometimes cryptic. The 5q abnormalities were associated with translocations in 54% of cases and were simple deletions in 46%. In 68% of cases, 5q deletions were associated with chromosome 7 abnormalities, and 90% of these presented a complex karyotype. Of the 110 patients, 28 had a hematopoietic disorder secondary to chemotherapy, radiotherapy, or both. Among 82 patients with de novo AML/MDS, 63 were older than 60 years. Chromosomal abnormalities often associated hypodiploidy and chromosome 5 and 7 abnormalities in complex karyotypes, features resembling those of secondary hemopathies. Systematic investigation of the exposure to mutagens and oncogenes is thus essential to specify the factors potentially involved in MDS/AML with 5q abnormalities.
Birth Defects Research Part A: Clinical and Molecular Teratology, 2014
The American Journal of Human Genetics, 2000
Journal de génétique humaine, 1985
S-100 protein, essentially of astrocytic origin, is present in the amniotic fluid of anencephalic... more S-100 protein, essentially of astrocytic origin, is present in the amniotic fluid of anencephalic fetuses. Its detection reflects tissue necrosis and could be complementary for prenatal diagnosis.
Archives of Disease in Childhood, 2019
ObjectivesTo describe the epidemiology and geographical differences in prevalence of congenital c... more ObjectivesTo describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe.Design and settingCongenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births).ParticipantsAll birth outcomes (live births, fetal deaths from 20 weeks gestation and terminations of pregnancy after prenatal diagnosis of a fetal anomaly (TOPFA)) from 2005 to 2014.Main outcome measuresPrevalence, proportion of associated non-cerebral anomalies, prenatal detection rate.Results4927 cases with congenital cerebral anomalies were identified; a prevalence (adjusted for under-reporting) of 9.8 (95% CI: 8.5 to 11.2) per 10 000 births. There was a sixfold difference in prevalence across the registries. Registries with higher proportions of prenatal diagnoses had higher prevalence. Overall, 55% of all ca...
Prenatal Diagnosis, 1984
S-100 protein, which is found essentially in the astrocytes of the nervous system, was assayed in... more S-100 protein, which is found essentially in the astrocytes of the nervous system, was assayed in amniotic fluids by Particle Counting ImmunoAssay. It was present in 19 cases of anencephaly out of 26, in 1 case of open spina bifida out of 5 and in each of the 4 cases of fetal death, whereas it was not detected in the 48 control amniotic fluids collected between the 16th and the 35th week of gestation. Thirty-one amniotic fluids from fetuses with other congenital malformations were devoid of detectable S-100. The presence of S-100 in amniotic fluid of anencephalic fetuses can presumably be considered as a biological sign of necrosis of the exencephalic brain and seems specific to damage of the central nervous system accompanied by neural tube defect.
This report aims at providing healthcare authorities and healthcare professionals with specific r... more This report aims at providing healthcare authorities and healthcare professionals with specific recommendations on the scientific and ethical issues that need to be considered in view of a responsible implementation of preconceptual genetic testing in a reproductive context. The report specifically discusses the framework underpinning the appropriate introduction of such testing and suggests inclusion criteria for diseases that could be targeted by the screening process: (i) severity, (ii) age of onset, (iii) prevalence, (iv) selection of mutations based on clinical significance and (v) treatability.
Journal of Medical Genetics, 1999
Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocri... more Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullary adenomatous polyposis, in association with three bilateral adrenocortical adenomas, is presented. Mutation screening showed a 5960delA germline mutation in the adenomatous polyposis coli (APC) gene predicted to lead to a premature stop codon. This mutation was found in three of the four children of the patient. Western blot analysis of a lymphoblastoid cell line derived from the patient failed to detect any truncated APC polypeptide. This rare 3' mutation is responsible for an unusually complex and late onset phenotype of FAP.
Mutation Research/ …, 1993
Sister-chromatid exchange (SCE) in blood lymphocytes, serum tumors markers, carcinoembryonic anti... more Sister-chromatid exchange (SCE) in blood lymphocytes, serum tumors markers, carcinoembryonic antigen (CEA) and tissue polypeptide antigen (TPA), and urinary excretion of chromium, cobalt and nickel were determined in 26 male workers occupationally exposed to chromium, cobalt and nickel dust and in 25 controls matched for age and smoking habits. The differences in the urinary excretion of metals between exposed persons and controls were statistically significant. An analysis of variance on the SCE rank values revealed that both exposure status (exposed persons vs. controls) and smoking habits (smokers and former smokers vs. never smokers) had a statistically significant effect. For the tumor markers, the analysis of variance did not reveal a statistically significant difference between exposed persons and controls. However, CEA serum levels were significantly correlated not only with smoking habits but also with duration of exposure. As cobalt is only weakly mutagenic, these results suggest that the small amount of absorbed chromium and nickel may have been sufficient to induce SCE. The hypothesis that tumor markers may be increased in groups of subjects exposed to genotoxic substances deserves further study.
European Journal of Human Genetics, 2013
Bulletin Et Memoires De L Academie Royale De Medecine De Belgique, 2000
Le cancer colorectal est la deuxieme cause de mortalite en Europe occidentale. Notre lecture a po... more Le cancer colorectal est la deuxieme cause de mortalite en Europe occidentale. Notre lecture a pour but de decrire les progres genetiques recents et leur implication dans les mecanismes de la carcinogenese colorectale, ainsi que leurs consequences dans la prise en charge therapeutique et dans les mesures de prevention du cancer colorectal hereditaire non polyposique, ou syndrome HNPCC. L'histoire familiale et les signes cliniques, coliques et extracoliques, qui permettent de suspecter ce syndrome autosomique dominant, sont presentes (criteres d'Amsterdam revus, et ceux de Bethesda). Les six principaux genes MLH1, MSH2, MSH6, PMS2, PMS3 et MSH3, responsables du syndrome HNPCC, sont directement impliques dans le systeme de reparation des mesappariements des bases nucleotidiques, lors de la replication de l'ADN a chaque cycle cellulaire. Un defaut constitutif d'un de ces genes, suivi de la perte de fonction de l'allele homologue, est responsable du phenotype mutateur des tumeurs, qui se manifeste par des variations de taille de sequences repetitives que sont les microsatellites, et par une perte d'expression de proteine specifique au gene implique. Afin de donner une information precise aux cliniciens et aux patients concernes, et en l'absence de criteres absolus de diagnostic du syndrome HNPCC, nous avons developpe, depuis septembre 1998, une strategie de diagnostic genetique du syndrome et de recherche de la mutation responsable pour les deux principaux genes MLH1 et MSH2. Pour les patients, le diagnostic genetique pourrait modifier la prise en charge chirurgicale et le traitement medical, et dans les familles a risque, le diagnostic genetique predictif devrait contribuer tres positivement a la prevention du cancer ».
PloS one, 2018
Surveillance of congenital anomalies is important to identify potential teratogens. This study an... more Surveillance of congenital anomalies is important to identify potential teratogens. This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing. The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are u...
European Journal of Human Genetics, 2014
The Journal of Rheumatology, 2011
Objective.To compare the distribution of congenital anomalies within the VACTERL association (ver... more Objective.To compare the distribution of congenital anomalies within the VACTERL association (vertebral defects, anal atresia, cardiac, tracheoesophageal, renal, and limb abnormalities) between patients exposed to tumor necrosis factor-α (TNF-α) antagonist and the general population.Methods.Analysis for comparison of proportional differences to a previous publication between anomaly subgroups, according to subgroup definitions of the European Surveillance of Congenital Anomalies (EUROCAT), a population-based database.Results.Most EUROCAT subgroups belonging to the VACTERL association contained only one or 2 records of TNF-α antagonist exposure, so comparison of proportions was imprecise. Only the category “limb abnormalities” showed a significantly higher proportion in the general population.Conclusion.The high number of congenital anomalies belonging to the VACTERL association from a report of pregnancies exposed to TNF-α antagonists could not be confirmed using a population-based ...
Annales de chirurgie de la main et du membre supérieur : organe officiel des sociétés de chirurgie de la main = Annals of hand and upper limb surgery, 1992
The trismus pseudocamptodactyly syndrome also called Hecht syndrome or Dutch-Kentucky syndrome is... more The trismus pseudocamptodactyly syndrome also called Hecht syndrome or Dutch-Kentucky syndrome is characterized by loss of the ability to fully open the mouth (trismus) and a finger contracture with progressive flexion of the fingers upon extension of the wrist (pseudocamptodactyly). Deformities of the foot may be associated e.g. hammer and claw toes, tightening of the muscles of the posterior part of the leg producing an equinovarus foot. The authors presents two affected individuals from one family from which nine members had some involvement. The expression of the syndrome may vary. The pattern of the finger contracture is specific. The inheritance is autosomal dominant.
Cancer Genetics and Cytogenetics, 2001
We report on three cases, two with myelodysplastic syndrome (MDS) and one with acute lymphoblasti... more We report on three cases, two with myelodysplastic syndrome (MDS) and one with acute lymphoblastic leukemia (ALL), displaying trisomy 16 as the sole cytogenetic anomaly. In none of these cases was a concomitant inv(16)(p13q22) detected by fluorescence in situ hybridization (FISH) or reverse transcription polymerase chain reaction (RT-PCR). Summarizing the literature, only six other cases cytogenetically characterized by an isolated trisomy 16 have been reported in hematological malignancies. These patients had either MDS, acute myeloblastic leukemia (AML), myelofibrosis, or ALL. All but one of these cases were aged less than 50.
Cancer Genetics and Cytogenetics, 2007
A retrospective cytogenetic study of acute myeloid leukemias (AML) and myelodysplastic syndromes ... more A retrospective cytogenetic study of acute myeloid leukemias (AML) and myelodysplastic syndromes (MDS) was conducted by the Groupe Francophone de Cytogénétique Hématologique (GFCH) to evaluate the structural abnormalities of chromosome 5 associated with other chromosomal abnormalities, in particular of chromosome 7, in these pathologies. In all, 110 cases of AML/MDS were recruited based on the presence of chromosome 5 abnormalities under conventional cytogenetics and supplemented by a systematic fluorescence in situ hybridization study of chromosomes 5 and 7. The abnormalities of the long arm of chromosome 5 (5q) were deletions of various sizes and sometimes cryptic. The 5q abnormalities were associated with translocations in 54% of cases and were simple deletions in 46%. In 68% of cases, 5q deletions were associated with chromosome 7 abnormalities, and 90% of these presented a complex karyotype. Of the 110 patients, 28 had a hematopoietic disorder secondary to chemotherapy, radiotherapy, or both. Among 82 patients with de novo AML/MDS, 63 were older than 60 years. Chromosomal abnormalities often associated hypodiploidy and chromosome 5 and 7 abnormalities in complex karyotypes, features resembling those of secondary hemopathies. Systematic investigation of the exposure to mutagens and oncogenes is thus essential to specify the factors potentially involved in MDS/AML with 5q abnormalities.
Birth Defects Research Part A: Clinical and Molecular Teratology, 2014
The American Journal of Human Genetics, 2000
Journal de génétique humaine, 1985
S-100 protein, essentially of astrocytic origin, is present in the amniotic fluid of anencephalic... more S-100 protein, essentially of astrocytic origin, is present in the amniotic fluid of anencephalic fetuses. Its detection reflects tissue necrosis and could be complementary for prenatal diagnosis.
Archives of Disease in Childhood, 2019
ObjectivesTo describe the epidemiology and geographical differences in prevalence of congenital c... more ObjectivesTo describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe.Design and settingCongenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births).ParticipantsAll birth outcomes (live births, fetal deaths from 20 weeks gestation and terminations of pregnancy after prenatal diagnosis of a fetal anomaly (TOPFA)) from 2005 to 2014.Main outcome measuresPrevalence, proportion of associated non-cerebral anomalies, prenatal detection rate.Results4927 cases with congenital cerebral anomalies were identified; a prevalence (adjusted for under-reporting) of 9.8 (95% CI: 8.5 to 11.2) per 10 000 births. There was a sixfold difference in prevalence across the registries. Registries with higher proportions of prenatal diagnoses had higher prevalence. Overall, 55% of all ca...
Prenatal Diagnosis, 1984
S-100 protein, which is found essentially in the astrocytes of the nervous system, was assayed in... more S-100 protein, which is found essentially in the astrocytes of the nervous system, was assayed in amniotic fluids by Particle Counting ImmunoAssay. It was present in 19 cases of anencephaly out of 26, in 1 case of open spina bifida out of 5 and in each of the 4 cases of fetal death, whereas it was not detected in the 48 control amniotic fluids collected between the 16th and the 35th week of gestation. Thirty-one amniotic fluids from fetuses with other congenital malformations were devoid of detectable S-100. The presence of S-100 in amniotic fluid of anencephalic fetuses can presumably be considered as a biological sign of necrosis of the exencephalic brain and seems specific to damage of the central nervous system accompanied by neural tube defect.
This report aims at providing healthcare authorities and healthcare professionals with specific r... more This report aims at providing healthcare authorities and healthcare professionals with specific recommendations on the scientific and ethical issues that need to be considered in view of a responsible implementation of preconceptual genetic testing in a reproductive context. The report specifically discusses the framework underpinning the appropriate introduction of such testing and suggests inclusion criteria for diseases that could be targeted by the screening process: (i) severity, (ii) age of onset, (iii) prevalence, (iv) selection of mutations based on clinical significance and (v) treatability.
Journal of Medical Genetics, 1999
Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocri... more Familial adenomatous polyposis (FAP) is characterised by hundreds of colorectal adenomas. Endocrine neoplasms have occasionally been reported, as have gastric polyps, which are usually hamartomatous in the fundus of the stomach and adenomatous in the antrum. A 57 year old man with colorectal, gastric, and periampullary adenomatous polyposis, in association with three bilateral adrenocortical adenomas, is presented. Mutation screening showed a 5960delA germline mutation in the adenomatous polyposis coli (APC) gene predicted to lead to a premature stop codon. This mutation was found in three of the four children of the patient. Western blot analysis of a lymphoblastoid cell line derived from the patient failed to detect any truncated APC polypeptide. This rare 3' mutation is responsible for an unusually complex and late onset phenotype of FAP.
Mutation Research/ …, 1993
Sister-chromatid exchange (SCE) in blood lymphocytes, serum tumors markers, carcinoembryonic anti... more Sister-chromatid exchange (SCE) in blood lymphocytes, serum tumors markers, carcinoembryonic antigen (CEA) and tissue polypeptide antigen (TPA), and urinary excretion of chromium, cobalt and nickel were determined in 26 male workers occupationally exposed to chromium, cobalt and nickel dust and in 25 controls matched for age and smoking habits. The differences in the urinary excretion of metals between exposed persons and controls were statistically significant. An analysis of variance on the SCE rank values revealed that both exposure status (exposed persons vs. controls) and smoking habits (smokers and former smokers vs. never smokers) had a statistically significant effect. For the tumor markers, the analysis of variance did not reveal a statistically significant difference between exposed persons and controls. However, CEA serum levels were significantly correlated not only with smoking habits but also with duration of exposure. As cobalt is only weakly mutagenic, these results suggest that the small amount of absorbed chromium and nickel may have been sufficient to induce SCE. The hypothesis that tumor markers may be increased in groups of subjects exposed to genotoxic substances deserves further study.
European Journal of Human Genetics, 2013