Literature DB >> 717402

Hereditary retinoblastoma: delayed mutation or host resistance?

E Matsunaga.   

Abstract

Evidence is presented from the literature that there is little need to postulate delayed mutation for the retinoblastoma locus. Both penetrance and expressivity in the gene carrier can be defined as a variable determined by genetic and environmental factors, not by a Poisson distribution of tumors formed. Of individuals who received a new mutation from a healthy parent, approximately 13% do not manifest retinoblastoma, and the heritability of the host resistance is estimated at about 90%. The nonhereditary form of retinoblastoma may occur in the most susceptible group of the population.

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Year:  1978        PMID: 717402      PMCID: PMC1685630     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  24 in total

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Authors:  K Minoda
Journal:  Nippon Ganka Gakkai Zasshi       Date:  1976-12-10

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Journal:  Arch Ophthalmol       Date:  1964-12

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Authors:  M T MACKLIN
Journal:  Am J Hum Genet       Date:  1960-03       Impact factor: 11.025

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Authors:  D P TUCKER; A G STEINBERG; D G COGAN
Journal:  AMA Arch Ophthalmol       Date:  1957-04

5.  A possible case of delayed mutation in man.

Authors:  C AUERBACH
Journal:  Ann Hum Genet       Date:  1956-05       Impact factor: 1.670

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Authors:  F VOGEL
Journal:  Z Mensch Vererb Konstitutionsl       Date:  1957

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Journal:  AMA Arch Ophthalmol       Date:  1951-10

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Authors:  M L Briard-Guillemot; C Bonaïti-Pellié; J Feingold; J Frézal
Journal:  Humangenetik       Date:  1974

9.  Family studies in retinoblastoma.

Authors:  H Gordon
Journal:  Birth Defects Orig Artic Ser       Date:  1974

10.  Delayed mutation as a cause of retinoblastoma: application to genetic counseling.

Authors:  J Herrmann
Journal:  Birth Defects Orig Artic Ser       Date:  1976
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  28 in total

1.  Earlier age of onset in BRCA carriers-anticipation or cohort effect?: A Countercurrents Series.

Authors:  S A Narod
Journal:  Curr Oncol       Date:  2011-12       Impact factor: 3.677

2.  Hereditary retinoblastoma: can balanced insertion entirely explain the differences of expressivity among families?

Authors:  C Bonaïti-Pellié; F Clerget-Darpoux; M C Babron
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

3.  Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma.

Authors:  R Bremner; D C Du; M J Connolly-Wilson; P Bridge; K F Ahmad; H Mostachfi; D Rushlow; J M Dunn; B L Gallie
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

4.  Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function.

Authors:  G A Otterson; W d Chen; A B Coxon; S N Khleif; F J Kaye
Journal:  Proc Natl Acad Sci U S A       Date:  1997-10-28       Impact factor: 11.205

5.  Types, rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients.

Authors:  Y Ejima; M S Sasaki; A Kaneko; H Tanooka
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

6.  Family studies on the chromosomal location of the retinoblastoma gene (Rb-1).

Authors:  J Morten; D G Harnden; S Bundey
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318

7.  Hereditary retinoblastoma: lack of maternal effect.

Authors:  E Matsunaga
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

8.  Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

Authors:  S L Sherman; P A Jacobs; N E Morton; U Froster-Iskenius; P N Howard-Peebles; K B Nielsen; M W Partington; G R Sutherland; G Turner; M Watson
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Genetic anticipation in BRCA1/BRCA2 families after controlling for ascertainment bias and cohort effect.

Authors:  Rodrigo Santa Cruz Guindalini; Andrew Song; James D Fackenthal; Olufunmilayo I Olopade; Dezheng Huo
Journal:  Cancer       Date:  2016-03-15       Impact factor: 6.860

10.  Retinoblastoma mutation rate in New Zealand and support for the two-hit model.

Authors:  P H Fitzgerald; J Stewart; R D Suckling
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

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