1974-12
AUTHORSM. L. Briard-Guillemot, C. Bonaïti-Pellié, J. Feingold, J. Frézal
ABSTRACTA genetic study of 598 patients with retinoblastoma was made-10.5% were familial, 36% had the bilateral form. The data confirmed that these two forms differ in their mode of inheritance; the bilateral are due to a germinal dominant mutation, whereas the unilateral are due in most cases to a somatic mutation and are therefore non-hereditary. The recurrence risk among the offspring of sporadic unilateral cases amounts to 1.2–11.8%.The incidence of the disease among the sibs of sporadic cases is higher if the index case has a bilateral form (6.2% vs. 0.6%). Contrarily, the incidence is higher among the offspring of normal sibs when the index case has a unilateral form.The incidence of the retinoblastoma has been estimated at 5x10-5 in a French population with a mutation rate of 5x10-6.Knudson has developed the hypothesis that retinoblastoma is caused by two mutational events. In the dominantly inherited form one mutation is germinal, the second occurs in the retinal cells. In the non-heritary form both occur in somatic cells. Knudson's hypothesis accounts reasonably well for the familial distribution of retinoblastoma but does not correlate with the proportion of healthy carriers and changes of penetrance.The hypothesis is put forward that premutational events responsible for these changes of penetrance include chromosomal breakages susceptible to repair or to further evolution to deletion. More... »
PAGES271-284
http://scigraph.springernature.com/pub.10.1007/bf00297591
DOIhttp://dx.doi.org/10.1007/bf00297591
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1034184811
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/4442873
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Chromosome Aberrations",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Eye Neoplasms",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "France",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Gene Frequency",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genes, Dominant",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Heterozygote",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Mutation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Phenotype",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Recurrence",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Retinoblastoma",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Risk",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Unit\u00e9 de Recherches de G\u00e9n\u00e9tique M\u00e9dicale I.N.S.E.R.M., Chinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants-Malades, Paris",
"id": "http://www.grid.ac/institutes/grid.412134.1",
"name": [
"Unit\u00e9 de Recherches de G\u00e9n\u00e9tique M\u00e9dicale I.N.S.E.R.M., Chinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants-Malades, Paris"
],
"type": "Organization"
},
"familyName": "Briard-Guillemot",
"givenName": "M. L.",
"id": "sg:person.054143644.40",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.054143644.40"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Unit\u00e9 de Recherches de G\u00e9n\u00e9tique M\u00e9dicale I.N.S.E.R.M., Chinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants-Malades, Paris",
"id": "http://www.grid.ac/institutes/grid.412134.1",
"name": [
"Unit\u00e9 de Recherches de G\u00e9n\u00e9tique M\u00e9dicale I.N.S.E.R.M., Chinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants-Malades, Paris"
],
"type": "Organization"
},
"familyName": "Bona\u00efti-Pelli\u00e9",
"givenName": "C.",
"id": "sg:person.0106217563.93",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0106217563.93"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Unit\u00e9 de Recherches de G\u00e9n\u00e9tique M\u00e9dicale I.N.S.E.R.M., Chinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants-Malades, Paris",
"id": "http://www.grid.ac/institutes/grid.412134.1",
"name": [
"Unit\u00e9 de Recherches de G\u00e9n\u00e9tique M\u00e9dicale I.N.S.E.R.M., Chinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants-Malades, Paris"
],
"type": "Organization"
},
"familyName": "Feingold",
"givenName": "J.",
"id": "sg:person.01322215254.74",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322215254.74"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Unit\u00e9 de Recherches de G\u00e9n\u00e9tique M\u00e9dicale I.N.S.E.R.M., Chinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants-Malades, Paris",
"id": "http://www.grid.ac/institutes/grid.412134.1",
"name": [
"Unit\u00e9 de Recherches de G\u00e9n\u00e9tique M\u00e9dicale I.N.S.E.R.M., Chinique de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital des Enfants-Malades, Paris"
],
"type": "Organization"
},
"familyName": "Fr\u00e9zal",
"givenName": "J.",
"id": "sg:person.0102343442.41",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0102343442.41"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1007/bf00295234",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013320005",
"https://doi.org/10.1007/bf00295234"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/bjc.1969.41",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022030401",
"https://doi.org/10.1038/bjc.1969.41"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00280877",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025847859",
"https://doi.org/10.1007/bf00280877"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/978-3-642-85874-1_2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1089798163",
"https://doi.org/10.1007/978-3-642-85874-1_2"
],
"type": "CreativeWork"
}
],
"datePublished": "1974-12",
"datePublishedReg": "1974-12-01",
"description": "A genetic study of 598 patients with retinoblastoma was made-10.5% were familial, 36% had the bilateral form. The data confirmed that these two forms differ in their mode of inheritance; the bilateral are due to a germinal dominant mutation, whereas the unilateral are due in most cases to a somatic mutation and are therefore non-hereditary. The recurrence risk among the offspring of sporadic unilateral cases amounts to 1.2\u201311.8%.The incidence of the disease among the sibs of sporadic cases is higher if the index case has a bilateral form (6.2% vs. 0.6%). Contrarily, the incidence is higher among the offspring of normal sibs when the index case has a unilateral form.The incidence of the retinoblastoma has been estimated at 5x10-5 in a French population with a mutation rate of 5x10-6.Knudson has developed the hypothesis that retinoblastoma is caused by two mutational events. In the dominantly inherited form one mutation is germinal, the second occurs in the retinal cells. In the non-heritary form both occur in somatic cells. Knudson's hypothesis accounts reasonably well for the familial distribution of retinoblastoma but does not correlate with the proportion of healthy carriers and changes of penetrance.The hypothesis is put forward that premutational events responsible for these changes of penetrance include chromosomal breakages susceptible to repair or to further evolution to deletion.",
"genre": "article",
"id": "sg:pub.10.1007/bf00297591",
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1085363",
"issn": [
"0018-7348"
],
"name": "Humangenetik",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "4",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "24"
}
],
"keywords": [
"index case",
"bilateral form",
"sporadic unilateral cases",
"unilateral cases",
"healthy carriers",
"recurrence risk",
"unilateral form",
"retinal cells",
"sporadic cases",
"retinoblastoma",
"incidence",
"somatic mutations",
"familial distribution",
"French population",
"mode of inheritance",
"normal sibs",
"dominant mutations",
"chromosomal breakage",
"penetrance",
"mutations",
"most cases",
"cells",
"patients",
"offspring",
"cases",
"disease",
"genetic studies",
"sibs",
"risk",
"hypothesis",
"mutational events",
"repair",
"events",
"somatic cells",
"population",
"changes",
"proportion",
"mutation rate",
"deletion",
"study",
"rate",
"Knudson's hypothesis",
"form",
"data",
"carriers",
"inheritance",
"further evolution",
"breakage",
"distribution",
"evolution",
"mode"
],
"name": "\u00c9tude g\u00e9n\u00e9tique du r\u00e9tinoblastome",
"pagination": "271-284",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1034184811"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/bf00297591"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"4442873"
]
}
],
"sameAs": [
"https://doi.org/10.1007/bf00297591",
"https://app.dimensions.ai/details/publication/pub.1034184811"
],
"sdDataset": "articles",
"sdDatePublished": "2022-08-04T16:49",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220804/entities/gbq_results/article/article_137.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1007/bf00297591"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/bf00297591'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/bf00297591'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf00297591'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf00297591'
This table displays all metadata directly associated to this object as RDF triples.
204 TRIPLES
21 PREDICATES
95 URIs
83 LITERALS
21 BLANK NODES