Retinoblastoma risk factors: Difference between revisions
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==Common Risk Factors== | ==Common Risk Factors== | ||
===Family History=== | ===Family History=== | ||
Approximately 10% of patients with retinoblastoma have a previously established [[family history]] of the disease.<ref name="RichterVandezande2003">{{cite journal|last1=Richter|first1=Suzanne|last2=Vandezande|first2=Kirk|last3=Chen|first3=Ning|last4=Zhang|first4=Katherine|last5=Sutherland|first5=Joanne|last6=Anderson|first6=Julie|last7=Han|first7=Liping|last8=Panton|first8=Rachel|last9=Branco|first9=Patricia|last10=Gallie|first10=Brenda|title=Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma|journal=The American Journal of Human Genetics|volume=72|issue=2|year=2003|pages=253–269|issn=00029297|doi=10.1086/345651}}</ref> There is 50 percent risk of passing the [[mutation]] on to their offspring in patients with bilateral retinoblastoma, unilateral retinoblastoma with a [[family history]], or unilateral retinoblastoma with a proven RB1 somatic [[mutation]]. The risk of retinoblastoma may also be increased among siblings of a patient with retinoblastoma as one parent may have [[ | Approximately 10% of patients with retinoblastoma have a previously established [[family history]] of the disease.<ref name="RichterVandezande2003">{{cite journal|last1=Richter|first1=Suzanne|last2=Vandezande|first2=Kirk|last3=Chen|first3=Ning|last4=Zhang|first4=Katherine|last5=Sutherland|first5=Joanne|last6=Anderson|first6=Julie|last7=Han|first7=Liping|last8=Panton|first8=Rachel|last9=Branco|first9=Patricia|last10=Gallie|first10=Brenda|title=Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma|journal=The American Journal of Human Genetics|volume=72|issue=2|year=2003|pages=253–269|issn=00029297|doi=10.1086/345651}}</ref> There is 50 percent risk of passing the [[mutation]] on to their offspring in patients with bilateral retinoblastoma, unilateral retinoblastoma with a [[family history]], or unilateral retinoblastoma with a proven ''RB1'' somatic [[mutation]]. The risk of retinoblastoma may also be increased among siblings of a patient with retinoblastoma as one parent may have somatic [[mosaicism]] for the ''RB1'' deletion or may be a silent carrier of ''RB1'' [[mutation]].<ref name="pmid19280657">{{cite journal| author=Rushlow D, Piovesan B, Zhang K, Prigoda-Lee NL, Marchong MN, Clark RD et al.| title=Detection of mosaic RB1 mutations in families with retinoblastoma. | journal=Hum Mutat | year= 2009 | volume= 30 | issue= 5 | pages= 842-51 | pmid=19280657 | doi=10.1002/humu.20940 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19280657 }} </ref> The magnitude of risk among offspring of the proband depends upon the [[tumor]] presentation in the proband (ie, unilateral or bilateral; unifocal or multifocal). The magnitude of increased risk among siblings of the proband depends upon the genetic status of the parents and the proband. | ||
===Viral exposure=== | ===Viral exposure=== | ||
The presence of [[HPV]] sequences in retinoblastoma [[tumor]] tissue may play a role in the development of sporadic retinoblastoma.<ref name="pmid11051250">{{cite journal| author=Orjuela M, Castaneda VP, Ridaura C, Lecona E, Leal C, Abramson DH et al.| title=Presence of human papilloma virus in tumor tissue from children with retinoblastoma: an alternative mechanism for tumor development. | journal=Clin Cancer Res | year= 2000 | volume= 6 | issue= 10 | pages= 4010-6 | pmid=11051250 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11051250 }} </ref> | The presence of [[HPV]] sequences in retinoblastoma [[tumor]] tissue may play a role in the development of sporadic retinoblastoma.<ref name="pmid11051250">{{cite journal| author=Orjuela M, Castaneda VP, Ridaura C, Lecona E, Leal C, Abramson DH et al.| title=Presence of human papilloma virus in tumor tissue from children with retinoblastoma: an alternative mechanism for tumor development. | journal=Clin Cancer Res | year= 2000 | volume= 6 | issue= 10 | pages= 4010-6 | pmid=11051250 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11051250 }} </ref> | ||
Revision as of 15:37, 16 October 2015
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]
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Overview
Common risk factors in the development of retinoblastoma are, advanced paternal age, positive family history, and viral exposure.[1][2] [3]
Common Risk Factors
Family History
Approximately 10% of patients with retinoblastoma have a previously established family history of the disease.[1] There is 50 percent risk of passing the mutation on to their offspring in patients with bilateral retinoblastoma, unilateral retinoblastoma with a family history, or unilateral retinoblastoma with a proven RB1 somatic mutation. The risk of retinoblastoma may also be increased among siblings of a patient with retinoblastoma as one parent may have somatic mosaicism for the RB1 deletion or may be a silent carrier of RB1 mutation.[4] The magnitude of risk among offspring of the proband depends upon the tumor presentation in the proband (ie, unilateral or bilateral; unifocal or multifocal). The magnitude of increased risk among siblings of the proband depends upon the genetic status of the parents and the proband.
Viral exposure
The presence of HPV sequences in retinoblastoma tumor tissue may play a role in the development of sporadic retinoblastoma.[2]
Advanced paternal age
There is evidence suggesting that the mutations of RB1 are more common during spermatogenesis than oogenesis.[3]
References
- ↑ 1.0 1.1 Richter, Suzanne; Vandezande, Kirk; Chen, Ning; Zhang, Katherine; Sutherland, Joanne; Anderson, Julie; Han, Liping; Panton, Rachel; Branco, Patricia; Gallie, Brenda (2003). "Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma". The American Journal of Human Genetics. 72 (2): 253–269. doi:10.1086/345651. ISSN 0002-9297.
- ↑ 2.0 2.1 Orjuela M, Castaneda VP, Ridaura C, Lecona E, Leal C, Abramson DH; et al. (2000). "Presence of human papilloma virus in tumor tissue from children with retinoblastoma: an alternative mechanism for tumor development". Clin Cancer Res. 6 (10): 4010–6. PMID 11051250.
- ↑ 3.0 3.1 Dryja, Thaddeus P.; Mukai, Shizuo; Petersen, Robert; Rapaport, Joyce M.; Walton, David; Yandell, David W. (1989). "Parental origin of mutations of the retinoblastoma gene". Nature. 339 (6225): 556–558. doi:10.1038/339556a0. ISSN 0028-0836.
- ↑ Rushlow D, Piovesan B, Zhang K, Prigoda-Lee NL, Marchong MN, Clark RD; et al. (2009). "Detection of mosaic RB1 mutations in families with retinoblastoma". Hum Mutat. 30 (5): 842–51. doi:10.1002/humu.20940. PMID 19280657.