Retinoblastoma risk factors: Difference between revisions
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==Who is at highest risk?== | ==Who is at highest risk?== | ||
*'''Heredity''': Studies show that about 1/3 cases of retinoblastoma are caused by the Rb1 gene mutation. The rest 2/3 cases occur as a result of a random gene mutation. Each child of a parent with familial bilateral retinoblastoma has a 50% risk of inheriting the retinoblastoma gene. Patients with sporadic heritable retinoblastoma carry the gene for retinoblastoma and can also pass the gene on to their children even though they did not inherit the gene from their parents. Children who inherit the retinoblastoma gene have a 90% risk of developing retinoblastoma. *'''Paternal occupation''': Sporadic non heritable form of the disease results from post-conception events like [[gestational]] exposure to [[X-rays]] and morning sickness medication and low maternal education level. <ref name="pmid2790788">{{cite journal |author=Bunin GR, Meadows AT, Emanuel BS, Buckley JD, Woods WG, Hammond GD |title=Pre- and postconception factors associated with sporadic heritable and nonheritable retinoblastoma |journal=[[Cancer Research]] |volume=49 |issue=20 |pages=5730–5 |year=1989 |month=October |pmid=2790788 |doi= |url=http://cancerres.aacrjournals.org/cgi/pmidlookup?view=long&pmid=2790788 |accessdate=2012-05-02}}</ref> A study investigated the role of paternal occupation in retinoblastoma and according to it, paternal employment in the military [odds ratio (OR) 2.8, 95% confidence interval (CI) 1.1-8.8, P = 0.04] and in the metal industry (OR infinity, 95% CI 1.4-infinity, P = 0.02) was associated with sporadic heritable retinoblastoma (N = 67). For nonheritable retinoblastoma(N = 115), a significant association was observed for a job cluster consisting mostly of welders and machinists (OR 4.0, 95% CI 1.1-22.1, P = 0.04) and occupations of maternal grandparents were also studied and an association was observed with farming and nonheritable retinoblastoma (OR 10.0, 95% CI 1.4-433, P = 0.02)and in this study, many comparisons were made and the number of significant findings did not exceed that expected by chance.<ref name="pmid2224847">{{cite journal |author=Bunin GR, Petrakova A, Meadows AT, Emanuel BS, Buckley JD, Woods WG, Hammond GD |title=Occupations of parents of children with retinoblastoma: a report from the Children's Cancer Study Group |journal=[[Cancer Research]] |volume=50 |issue=22 |pages=7129–33 |year=1990 |month=November |pmid=2224847 |doi= |url=http://cancerres.aacrjournals.org/cgi/pmidlookup?view=long&pmid=2224847 |accessdate=2012-05-02}}</ref> But another study did not support the hypothesis that paternal occupational exposure is an important aetiological factor for retinoblastoma.<ref name="pmid19770353">{{cite journal |author=MacCarthy A, Bunch KJ, Fear NT, King JC, Vincent TJ, Murphy MF |title=Paternal occupation and retinoblastoma: a case-control study based on data for Great Britain 1962-1999 |journal=[[Occupational and Environmental Medicine]] |volume=66 |issue=10 |pages=644–9 |year=2009 |month=October |pmid=19770353 |doi=10.1136/oem.2007.037218 |url=http://oem.bmj.com/cgi/pmidlookup?view=long&pmid=19770353 |accessdate=2012-05-02}}</ref> | *'''Heredity''': Studies show that about 1/3 cases of retinoblastoma are caused by the Rb1 gene mutation. The rest 2/3 cases occur as a result of a random gene mutation. Each child of a parent with familial bilateral retinoblastoma has a 50% risk of inheriting the retinoblastoma gene. Patients with sporadic heritable retinoblastoma carry the gene for retinoblastoma and can also pass the gene on to their children even though they did not inherit the gene from their parents. Children who inherit the retinoblastoma gene have a 90% risk of developing retinoblastoma. **'''Paternal occupation''': Sporadic non heritable form of the disease results from post-conception events like [[gestational]] exposure to [[X-rays]] and morning sickness medication and low maternal education level. <ref name="pmid2790788">{{cite journal |author=Bunin GR, Meadows AT, Emanuel BS, Buckley JD, Woods WG, Hammond GD |title=Pre- and postconception factors associated with sporadic heritable and nonheritable retinoblastoma |journal=[[Cancer Research]] |volume=49 |issue=20 |pages=5730–5 |year=1989 |month=October |pmid=2790788 |doi= |url=http://cancerres.aacrjournals.org/cgi/pmidlookup?view=long&pmid=2790788 |accessdate=2012-05-02}}</ref> A study investigated the role of paternal occupation in retinoblastoma and according to it, paternal employment in the military [odds ratio (OR) 2.8, 95% confidence interval (CI) 1.1-8.8, P = 0.04] and in the metal industry (OR infinity, 95% CI 1.4-infinity, P = 0.02) was associated with sporadic heritable retinoblastoma (N = 67). For nonheritable retinoblastoma(N = 115), a significant association was observed for a job cluster consisting mostly of welders and machinists (OR 4.0, 95% CI 1.1-22.1, P = 0.04) and occupations of maternal grandparents were also studied and an association was observed with farming and nonheritable retinoblastoma (OR 10.0, 95% CI 1.4-433, P = 0.02)and in this study, many comparisons were made and the number of significant findings did not exceed that expected by chance.<ref name="pmid2224847">{{cite journal |author=Bunin GR, Petrakova A, Meadows AT, Emanuel BS, Buckley JD, Woods WG, Hammond GD |title=Occupations of parents of children with retinoblastoma: a report from the Children's Cancer Study Group |journal=[[Cancer Research]] |volume=50 |issue=22 |pages=7129–33 |year=1990 |month=November |pmid=2224847 |doi= |url=http://cancerres.aacrjournals.org/cgi/pmidlookup?view=long&pmid=2224847 |accessdate=2012-05-02}}</ref> But another study did not support the hypothesis that paternal occupational exposure is an important aetiological factor for retinoblastoma.<ref name="pmid19770353">{{cite journal |author=MacCarthy A, Bunch KJ, Fear NT, King JC, Vincent TJ, Murphy MF |title=Paternal occupation and retinoblastoma: a case-control study based on data for Great Britain 1962-1999 |journal=[[Occupational and Environmental Medicine]] |volume=66 |issue=10 |pages=644–9 |year=2009 |month=October |pmid=19770353 |doi=10.1136/oem.2007.037218 |url=http://oem.bmj.com/cgi/pmidlookup?view=long&pmid=19770353 |accessdate=2012-05-02}}</ref> | ||
*'''Age''': Most children diagnosed with retinoblastoma are younger than 3 years old. | *'''Age''': Most children diagnosed with retinoblastoma are younger than 3 years old. | ||
Revision as of 20:46, 2 May 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Retinoblastoma is a cancer of the retina. Development of this tumor is initiated by mutations[1] that inactivate both copies of the RB1 gene, which codes for the retinoblastoma protein.[2] While the genetics of retinoblastoma are well understood, there is much less known about the non-genetic factors in retinoblastoma.
Who is at highest risk?
- Heredity: Studies show that about 1/3 cases of retinoblastoma are caused by the Rb1 gene mutation. The rest 2/3 cases occur as a result of a random gene mutation. Each child of a parent with familial bilateral retinoblastoma has a 50% risk of inheriting the retinoblastoma gene. Patients with sporadic heritable retinoblastoma carry the gene for retinoblastoma and can also pass the gene on to their children even though they did not inherit the gene from their parents. Children who inherit the retinoblastoma gene have a 90% risk of developing retinoblastoma. **Paternal occupation: Sporadic non heritable form of the disease results from post-conception events like gestational exposure to X-rays and morning sickness medication and low maternal education level. [3] A study investigated the role of paternal occupation in retinoblastoma and according to it, paternal employment in the military [odds ratio (OR) 2.8, 95% confidence interval (CI) 1.1-8.8, P = 0.04] and in the metal industry (OR infinity, 95% CI 1.4-infinity, P = 0.02) was associated with sporadic heritable retinoblastoma (N = 67). For nonheritable retinoblastoma(N = 115), a significant association was observed for a job cluster consisting mostly of welders and machinists (OR 4.0, 95% CI 1.1-22.1, P = 0.04) and occupations of maternal grandparents were also studied and an association was observed with farming and nonheritable retinoblastoma (OR 10.0, 95% CI 1.4-433, P = 0.02)and in this study, many comparisons were made and the number of significant findings did not exceed that expected by chance.[4] But another study did not support the hypothesis that paternal occupational exposure is an important aetiological factor for retinoblastoma.[5]
- Age: Most children diagnosed with retinoblastoma are younger than 3 years old.
References
- ↑ Knudson A (1971). "Mutation and cancer: statistical study of retinoblastoma". Proc Natl Acad Sci U S A. 68 (4): 820–3. PMID 5279gadgqetqer523 Check
|pmid=value (help). - ↑ Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T. "A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma". Nature. 323 (6089): 643–6. PMID 2877398.
- ↑ Bunin GR, Meadows AT, Emanuel BS, Buckley JD, Woods WG, Hammond GD (1989). "Pre- and postconception factors associated with sporadic heritable and nonheritable retinoblastoma". Cancer Research. 49 (20): 5730–5. PMID 2790788. Retrieved 2012-05-02. Unknown parameter
|month=ignored (help) - ↑ Bunin GR, Petrakova A, Meadows AT, Emanuel BS, Buckley JD, Woods WG, Hammond GD (1990). "Occupations of parents of children with retinoblastoma: a report from the Children's Cancer Study Group". Cancer Research. 50 (22): 7129–33. PMID 2224847. Retrieved 2012-05-02. Unknown parameter
|month=ignored (help) - ↑ MacCarthy A, Bunch KJ, Fear NT, King JC, Vincent TJ, Murphy MF (2009). "Paternal occupation and retinoblastoma: a case-control study based on data for Great Britain 1962-1999". Occupational and Environmental Medicine. 66 (10): 644–9. doi:10.1136/oem.2007.037218. PMID 19770353. Retrieved 2012-05-02. Unknown parameter
|month=ignored (help)