Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation

Greta R. Bunin, Marc A. Felice, William Davidson, Debra L. Friedman, Carol L. Shields, Andrew Maidment, Michael O'Shea, Kim E. Nichols, Ann Leahey, Ira J. Dunkel, Rima Jubran, Carlos Rodriguez-Galindo, Mary Lou Schmidt, Joanna Lynn Weinstein, Stewart Goldman, David H. Abramson, Matthew W. Wilson, Brenda L. Gallie, Helen S.L. Chan, Michael Shapiro & 3 others Avital Cnaan, Arupa Ganguly, Anna T. Meadows

Research output: Contribution to journalArticle

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Abstract

Although ionizing radiation induces germline mutations in animals, human studies of radiation-exposed populations have not detected an effect. We conducted a case-control study of sporadic bilateral retinoblastoma, which results from a new germline RB1 mutation, to investigate gonadal radiation exposure of parents from medical sources before their child's conception. Parents of 206 cases from nine North American institutions and 269 controls participated; fathers of 184 cases and 223 friend and relative controls and mothers of 204 cases and 260 controls provided information in telephone interviews on their medical radiation exposure. Cases provided DNA for RB1 mutation testing. Of common procedures, lower gastrointestinal (GI) series conferred the highest estimated dose to testes and ovaries. Paternal history of lower GI series was associated with increased risk of retinoblastoma in the child [matched odds ratio (OR) = 3.6, 95% confidence interval (CI) = 1.2-11.2, two-sided p = 0.02], as was estimated total testicular dose from all procedures combined (OR for highest dose=3.9, 95% CI = 1.2-14.4, p = 0.02). Maternal history of lower GI series was also associated with increased risk (OR = 7.6, 95% CI = 2.8-20.7, p < 0.001) as was the estimated total dose (OR for highest dose = 3.0, 95% CI = 1.4-7.0, p = 0.005). The RB1 mutation spectrum in cases of exposed parents did not differ from that of other cases. Some animal and human data support our findings of an association of gonadal radiation exposure in men and women with new germline RB1 mutation detectable in their children, although bias, confounding, and/or chance may also explain the results.

Original languageEnglish (US)
Pages (from-to)2393-2404
Number of pages12
JournalInternational Journal of Cancer
Volume128
Issue number10
DOIs
StatePublished - May 1 2011

Fingerprint

Retinoblastoma
Germ-Line Mutation
Odds Ratio
Confidence Intervals
Parents
Mothers
Mutation
Ionizing Radiation
Fathers
Testis
Case-Control Studies
Ovary
Radiation Exposure
Interviews
Radiation
DNA
Population

Keywords

  • case-control studies
  • germline mutation
  • ionizing radiation
  • pediatric cancer
  • retinoblastoma

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Bunin, G. R., Felice, M. A., Davidson, W., Friedman, D. L., Shields, C. L., Maidment, A., ... Meadows, A. T. (2011). Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation. International Journal of Cancer, 128(10), 2393-2404. https://doi.org/10.1002/ijc.25565
Bunin, Greta R. ; Felice, Marc A. ; Davidson, William ; Friedman, Debra L. ; Shields, Carol L. ; Maidment, Andrew ; O'Shea, Michael ; Nichols, Kim E. ; Leahey, Ann ; Dunkel, Ira J. ; Jubran, Rima ; Rodriguez-Galindo, Carlos ; Schmidt, Mary Lou ; Weinstein, Joanna Lynn ; Goldman, Stewart ; Abramson, David H. ; Wilson, Matthew W. ; Gallie, Brenda L. ; Chan, Helen S.L. ; Shapiro, Michael ; Cnaan, Avital ; Ganguly, Arupa ; Meadows, Anna T. / Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation. In: International Journal of Cancer. 2011 ; Vol. 128, No. 10. pp. 2393-2404.
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abstract = "Although ionizing radiation induces germline mutations in animals, human studies of radiation-exposed populations have not detected an effect. We conducted a case-control study of sporadic bilateral retinoblastoma, which results from a new germline RB1 mutation, to investigate gonadal radiation exposure of parents from medical sources before their child's conception. Parents of 206 cases from nine North American institutions and 269 controls participated; fathers of 184 cases and 223 friend and relative controls and mothers of 204 cases and 260 controls provided information in telephone interviews on their medical radiation exposure. Cases provided DNA for RB1 mutation testing. Of common procedures, lower gastrointestinal (GI) series conferred the highest estimated dose to testes and ovaries. Paternal history of lower GI series was associated with increased risk of retinoblastoma in the child [matched odds ratio (OR) = 3.6, 95{\%} confidence interval (CI) = 1.2-11.2, two-sided p = 0.02], as was estimated total testicular dose from all procedures combined (OR for highest dose=3.9, 95{\%} CI = 1.2-14.4, p = 0.02). Maternal history of lower GI series was also associated with increased risk (OR = 7.6, 95{\%} CI = 2.8-20.7, p < 0.001) as was the estimated total dose (OR for highest dose = 3.0, 95{\%} CI = 1.4-7.0, p = 0.005). The RB1 mutation spectrum in cases of exposed parents did not differ from that of other cases. Some animal and human data support our findings of an association of gonadal radiation exposure in men and women with new germline RB1 mutation detectable in their children, although bias, confounding, and/or chance may also explain the results.",
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Bunin, GR, Felice, MA, Davidson, W, Friedman, DL, Shields, CL, Maidment, A, O'Shea, M, Nichols, KE, Leahey, A, Dunkel, IJ, Jubran, R, Rodriguez-Galindo, C, Schmidt, ML, Weinstein, JL, Goldman, S, Abramson, DH, Wilson, MW, Gallie, BL, Chan, HSL, Shapiro, M, Cnaan, A, Ganguly, A & Meadows, AT 2011, 'Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation', International Journal of Cancer, vol. 128, no. 10, pp. 2393-2404. https://doi.org/10.1002/ijc.25565

Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation. / Bunin, Greta R.; Felice, Marc A.; Davidson, William; Friedman, Debra L.; Shields, Carol L.; Maidment, Andrew; O'Shea, Michael; Nichols, Kim E.; Leahey, Ann; Dunkel, Ira J.; Jubran, Rima; Rodriguez-Galindo, Carlos; Schmidt, Mary Lou; Weinstein, Joanna Lynn; Goldman, Stewart; Abramson, David H.; Wilson, Matthew W.; Gallie, Brenda L.; Chan, Helen S.L.; Shapiro, Michael; Cnaan, Avital; Ganguly, Arupa; Meadows, Anna T.

In: International Journal of Cancer, Vol. 128, No. 10, 01.05.2011, p. 2393-2404.

Research output: Contribution to journalArticle

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AU - Bunin, Greta R.

AU - Felice, Marc A.

AU - Davidson, William

AU - Friedman, Debra L.

AU - Shields, Carol L.

AU - Maidment, Andrew

AU - O'Shea, Michael

AU - Nichols, Kim E.

AU - Leahey, Ann

AU - Dunkel, Ira J.

AU - Jubran, Rima

AU - Rodriguez-Galindo, Carlos

AU - Schmidt, Mary Lou

AU - Weinstein, Joanna Lynn

AU - Goldman, Stewart

AU - Abramson, David H.

AU - Wilson, Matthew W.

AU - Gallie, Brenda L.

AU - Chan, Helen S.L.

AU - Shapiro, Michael

AU - Cnaan, Avital

AU - Ganguly, Arupa

AU - Meadows, Anna T.

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Bunin GR, Felice MA, Davidson W, Friedman DL, Shields CL, Maidment A et al. Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation. International Journal of Cancer. 2011 May 1;128(10):2393-2404. https://doi.org/10.1002/ijc.25565