- Email: [email protected]
Screening newborns for TP53
Reflection and Reaction
Department of Radiation Oncology, All India Institute of Medical Sciences, New Delhi, India [email protected]
3
4
The authors declared no conflicts of interest. 1
2 If you would like to respond to an article published in The Lancet Oncology, please submit your correspondence online at: http://ees.elsevier. com/thelancetoncology
Powell JW, Dexter E, Scalzetti EM, Bogart JA. Treatment advances for medically inoperable non-small-cell lung cancer: emphasis on prospective trials. Lancet Oncol 2009; 10: 885–94. Marsiglia H, Baldeyrou P, Lartigau E, et al. High dose rate brachytherapy as sole modality for early stage endobronchial carcinoma. Int J Radiat Oncol Biol Phys 2000; 20: 665–72.
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Hennequin C, Bleichner O, Tredaniel J, et al. Long term results of endobronchial brachytherapy: a curative treatment? Int J Radiat Oncol Biol Phys 2007; 67: 425–30. Brach B, Buhler C, Hayman MH, Joyner LR Jr, Liprie SF. Percutaneous computed tomography-guided fine needle brachytherapy of pulmonary malignancies. Chest 1994; 106: 268–74. Ricke J, Wust P, Wieners G, et al. CT-guided interstitial single-fraction brachytherapy of lung tumors: phase 1 results of a novel technique. Chest 2005; 127: 2237–42.
Screening newborns for TP53 In the September issue of The Lancet Oncology, Achatz and colleagues1 discuss the possibility of screening newborns in southeast Brazil for a highly prevalent TP53 mutation (1:300 individuals) that predisposes to many cancers. The authors present the justifications and the problems associated with such a screening effort, and conclude that “on the basis of current scientific and medical knowledge the R337H mutation does not meet all the criteria for mass newborn screening”. In my opinion, this type of screening will never meet the criteria for newborn screening, which is intended to detect conditions for which the population is at risk but there is no other way to assess risk in newborns. Newborn screening is done for sporadic diseases such as congenital hypothyroidism and autosomal recessive disorders, in which carrier detection is difficult or impossible, but never applies for a disorder caused by the presence of a founder dominant mutation. A founder mutation in a newborn will be carried by one of the parents, so the detection of the child can be done by knowing who the adult carrier is. The detection of the carrier parent will allow the parents to decide if they wish to test their child and when to do so. The best known example of population screening for a founder mutation is for autosomal dominant hypercholesterolaemia. Two types of screening are possible to detect asymptomatic adults at risk. Cascade screening is the most economically effective, offering
the screening test to first-degree relatives of carriers of the mutation, and several countries have chosen this approach.2 The problem with this type of screening is that it involves the cooperation of relatives who are not always willing, and so an alternative has been the creation of databases to store information on patients.3 In my view, population screening of informed and consenting adults is much better suited for the TP53 mutation. This approach identifies families at risk and has been implemented in pilot studies for haemochromatosis.4 As emphasised by Achatz and colleagues,1 such population screening—in the context of appropriate genetic counselling—allows at-risk families the informed decision of whether or not to test the proband’s offspring. Joel Zlotogora Department of Community Genetics, Ministry of Health, Jerusalem, Israel [email protected] The author declared no conflicts of interest. 1
2 3
4
Achatz MIW, Hainaut P, Ashton-Prolla P. Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening? Lancet Oncol 2009; 10: 920–25. Leren TP. Cascade genetic screening for familial hypercholesterolemia. Clin Genet 2004; 66: 483–87. Hadfield SG, Horara S, Starr BJ, et al; Steering Group for the Department of Health Familial Hypercholesterolaemia Cascade Testing Audit Project. Family tracing to identify patients with familial hypercholesterolaemia: the second audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project. Ann Clin Biochem 2009; 46: 24–32. Adams PC, Barton JC. Haemochromatosis. Lancet 2007; 370: 1855–60.
Errata Brierley R. International Liver Cancer Association Annual Conference. Lancet Oncol 2009; 10: 940—In this News report, the final sentence of the 90Y radioembolisation paragraph should have read “Only one patient experienced radiation-induced pneumonitis; three had gastrointestinal ulcers that did not require surgical treatment, and radioembolisation-induced liver disease was noted in 24 patients (fatal for four).” Huober J, Thürlimann B. Adjuvant! When the new world meets the old world. Lancet Oncol 2009; 10: 1028–29—In this Reflection and Reaction, the affiliation for both authors should read “Breast Center, Kantonsspital St Gallen, 9007 St Gallen, Switzerland”. The authors would also like to thank Karen Price for her useful comments on the article.
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Department of Radiation Oncology, All India Institute of Medical Sciences, New Delhi, India [email protected]
3
4
The authors declared no conflicts of interest. 1
2 If you would like to respond to an article published in The Lancet Oncology, please submit your correspondence online at: http://ees.elsevier. com/thelancetoncology
Powell JW, Dexter E, Scalzetti EM, Bogart JA. Treatment advances for medically inoperable non-small-cell lung cancer: emphasis on prospective trials. Lancet Oncol 2009; 10: 885–94. Marsiglia H, Baldeyrou P, Lartigau E, et al. High dose rate brachytherapy as sole modality for early stage endobronchial carcinoma. Int J Radiat Oncol Biol Phys 2000; 20: 665–72.
5
Hennequin C, Bleichner O, Tredaniel J, et al. Long term results of endobronchial brachytherapy: a curative treatment? Int J Radiat Oncol Biol Phys 2007; 67: 425–30. Brach B, Buhler C, Hayman MH, Joyner LR Jr, Liprie SF. Percutaneous computed tomography-guided fine needle brachytherapy of pulmonary malignancies. Chest 1994; 106: 268–74. Ricke J, Wust P, Wieners G, et al. CT-guided interstitial single-fraction brachytherapy of lung tumors: phase 1 results of a novel technique. Chest 2005; 127: 2237–42.
Screening newborns for TP53 In the September issue of The Lancet Oncology, Achatz and colleagues1 discuss the possibility of screening newborns in southeast Brazil for a highly prevalent TP53 mutation (1:300 individuals) that predisposes to many cancers. The authors present the justifications and the problems associated with such a screening effort, and conclude that “on the basis of current scientific and medical knowledge the R337H mutation does not meet all the criteria for mass newborn screening”. In my opinion, this type of screening will never meet the criteria for newborn screening, which is intended to detect conditions for which the population is at risk but there is no other way to assess risk in newborns. Newborn screening is done for sporadic diseases such as congenital hypothyroidism and autosomal recessive disorders, in which carrier detection is difficult or impossible, but never applies for a disorder caused by the presence of a founder dominant mutation. A founder mutation in a newborn will be carried by one of the parents, so the detection of the child can be done by knowing who the adult carrier is. The detection of the carrier parent will allow the parents to decide if they wish to test their child and when to do so. The best known example of population screening for a founder mutation is for autosomal dominant hypercholesterolaemia. Two types of screening are possible to detect asymptomatic adults at risk. Cascade screening is the most economically effective, offering
the screening test to first-degree relatives of carriers of the mutation, and several countries have chosen this approach.2 The problem with this type of screening is that it involves the cooperation of relatives who are not always willing, and so an alternative has been the creation of databases to store information on patients.3 In my view, population screening of informed and consenting adults is much better suited for the TP53 mutation. This approach identifies families at risk and has been implemented in pilot studies for haemochromatosis.4 As emphasised by Achatz and colleagues,1 such population screening—in the context of appropriate genetic counselling—allows at-risk families the informed decision of whether or not to test the proband’s offspring. Joel Zlotogora Department of Community Genetics, Ministry of Health, Jerusalem, Israel [email protected] The author declared no conflicts of interest. 1
2 3
4
Achatz MIW, Hainaut P, Ashton-Prolla P. Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening? Lancet Oncol 2009; 10: 920–25. Leren TP. Cascade genetic screening for familial hypercholesterolemia. Clin Genet 2004; 66: 483–87. Hadfield SG, Horara S, Starr BJ, et al; Steering Group for the Department of Health Familial Hypercholesterolaemia Cascade Testing Audit Project. Family tracing to identify patients with familial hypercholesterolaemia: the second audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project. Ann Clin Biochem 2009; 46: 24–32. Adams PC, Barton JC. Haemochromatosis. Lancet 2007; 370: 1855–60.
Errata Brierley R. International Liver Cancer Association Annual Conference. Lancet Oncol 2009; 10: 940—In this News report, the final sentence of the 90Y radioembolisation paragraph should have read “Only one patient experienced radiation-induced pneumonitis; three had gastrointestinal ulcers that did not require surgical treatment, and radioembolisation-induced liver disease was noted in 24 patients (fatal for four).” Huober J, Thürlimann B. Adjuvant! When the new world meets the old world. Lancet Oncol 2009; 10: 1028–29—In this Reflection and Reaction, the affiliation for both authors should read “Breast Center, Kantonsspital St Gallen, 9007 St Gallen, Switzerland”. The authors would also like to thank Karen Price for her useful comments on the article.
1142
www.thelancet.com/oncology Vol 10 December 2009