18.12.2012 Views

2012 EDUCATIONAL BOOK - American Society of Clinical Oncology

2012 EDUCATIONAL BOOK - American Society of Clinical Oncology

2012 EDUCATIONAL BOOK - American Society of Clinical Oncology

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

CANCER PREDISPOSITION IN CHILDHOOD<br />

Authors’ Disclosures <strong>of</strong> Potential Conflicts <strong>of</strong> Interest<br />

Author<br />

Employment or<br />

Leadership<br />

Positions<br />

Consultant or<br />

Advisory Role<br />

Sara Knapke*<br />

Kristin Zelley*<br />

Kim E. Nichols*<br />

Wendy Kohlmann Myriad<br />

Joshua Schiffman*<br />

*No relevant relationships to disclose.<br />

1. <strong>American</strong> Cancer <strong>Society</strong>. Cancer Facts & Figures <strong>2012</strong>. Atlanta: <strong>American</strong><br />

Cancer <strong>Society</strong>, <strong>2012</strong>.<br />

2. Narod SA, Stiller C, Lenoir GM. An estimate <strong>of</strong> the heritable fraction <strong>of</strong><br />

childhood cancer. Br J Cancer. 1991;63:993-999.<br />

3. Pakakasama S, Tomlinson GE. Genetic predisposition and screening in<br />

pediatric cancer. Pediatr Clin North Am. 2002;49:1393-1413.<br />

4. Plon SE, Nathanson K. Inherited susceptibility for pediatric cancer.<br />

Cancer J. 2005;11:255-267.<br />

5. Strahm B, Malkin D. Hereditary cancer predisposition in children:<br />

genetic basis and clinical implications. Int J Cancer. 2006;119:2001-2006.<br />

6. Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin<br />

Oncol. 2005;23:276-292.<br />

7. Knapke S, Nagarajan R, Correll J, et al. Hereditary cancer risk assessment<br />

in a pediatric oncology follow-up clinic. Pediatr Blood Cancer. <strong>2012</strong>;58:85-89.<br />

8. Schiffman JD. Hereditary cancer syndromes: if you look, you will find<br />

them. Pediatr Blood Cancer. <strong>2012</strong>;58:5-6.<br />

9. <strong>American</strong> <strong>Society</strong> <strong>of</strong> <strong>Clinical</strong> <strong>Oncology</strong> policy statement update: genetic<br />

testing for cancer susceptibility. J Clin Oncol. 2003;21:2397-2406.<br />

10. Eng C, Hampel H, de la Chapelle A. Genetic testing for cancer<br />

predisposition. Annu Rev Med. 2001;52:371-400.<br />

11. Villani A, Tabori U, Schiffman J, et al. Biochemical and imaging<br />

surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome:<br />

a prospective observational study. Lancet Oncol. 2011;12:559-567.<br />

12. Nichols KE, Malkin D, Garber JE, et al. Germ-line TP53 mutations<br />

predispose to a wide spectrum <strong>of</strong> early-onset cancers. Cancer Epidemiol<br />

Biomarkers Prev. 2001;10:83-87.<br />

13. Qualman SJ, Bowen J, Erdman SH. Molecular basis <strong>of</strong> the brain<br />

tumor-polyposis (Turcot) syndrome. Pediatr Dev Pathol. 2003;6:574-576.<br />

14. Royer-Pokora B, Beier M, Henzler M, et al. Am J Med Genet A.<br />

2004;127:249-257.<br />

15. Ruteshouser EC, Huff V. Familial Wilms tumor. Am J Med Genet C<br />

Semin Med Genet. 2004;129C:29-34.<br />

16. Varley JM, McGown G, Thorncr<strong>of</strong>t M, et al. Are there low-penetrance<br />

TP53 alleles? Evidence from childhood adrenocortical tumors. Am J Hum<br />

Genet. 1999;65:995-1006.<br />

17. Gonzalez KD, Noltner KA, Buzin CH, et al. Beyond Li Fraumeni<br />

syndrome: clinical characteristics <strong>of</strong> families with TP53 germline mutations.<br />

J Clin Oncol. 2009;27:1250-1256.<br />

18. Gozali AE, Britt B, Shane L, et al. Choroid plexus tumors; management,<br />

outcome, and association with the Li-Fraumeni syndrome: The Children’s<br />

Hospital Los Angeles (CHLA) experience, 1991-2010. Pediatr Blood<br />

Cancer. Epub 2011 Oct 11.<br />

19. Tabori U, Shlien A, Baskin B, et al. TP53 alterations determine clinical<br />

subgroups and survival <strong>of</strong> patients with choroid plexus tumors. J Clin Oncol.<br />

2010;28:1995-2001.<br />

20. Tinat J, Bougeard G, Baert-Desurmont S, et al. 2009 version <strong>of</strong> the<br />

Chompret criteria for Li Fraumeni syndrome. J Clin Oncol. 2009;27:e108-109.<br />

21. Diller L, Sexsmith E, Gottlieb A, et al. Germline p53 mutations are<br />

frequently detected in young children with rhabdomyosarcoma. J Clin Invest.<br />

1995;95:1606-1611.<br />

22. Calvert G, Randall LR, Jones KB, et al. At risk populations for<br />

osteosarcoma: the syndromes and beyond. Sarcoma. In press.<br />

23. Draper GJ, Sanders BM, Brownbill PA, et al. Patterns <strong>of</strong> risk <strong>of</strong><br />

hereditary retinoblastoma and applications to genetic counseling. Br J<br />

Cancer. 1992;66:211-219.<br />

24. King KS, Prodanov T, Kantorovich V, et al. Metastatic pheochromocytoma/paraganglioma<br />

related to primary tumor development in childhood or<br />

adolescence: significant link to SDHB mutations. J Clin Oncol. 2011;29:4137-<br />

4142.<br />

25. Schiffman JD. No child left behind in SDHB testing for paragangliomas<br />

and pheochromocytomas. J Clin Oncol. 2011;29:4070-4072.<br />

26. Eaton KW, Tooke LS, Wainwright LM, et al. Spectrum <strong>of</strong> SMARCB1/<br />

Stock<br />

Ownership Honoraria<br />

REFERENCES<br />

Research<br />

Funding<br />

Expert<br />

Testimony<br />

Other<br />

Remuneration<br />

INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood<br />

Cancer. 2011;56:7-15.<br />

27. Janeway KA, Kim SY, Lodish M, et al. Defects in succinate dehydrogenase<br />

in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.<br />

Proc Natl Acad Sci USA.2011;108:314-318.<br />

28. Aretz S, Koch A, Uhlhaas S, et al. Should children at risk for familial<br />

adenomatous polyposis be screened for hepatoblastoma and children with<br />

apparently sporadic hepatoblastoma be screened for APC germline mutations?<br />

Pediatr Blood Cancer. 2006;47:811-818.<br />

29. Dinauer C, Francis GL. Thyroid cancer in children. Endocrinol Metab<br />

Clin North Am. 2007;36:779-806.<br />

30. Moore SW, Appfelstaedt J, Zaahl MG. Familial medullary carcinoma<br />

prevention, risk evaluation, and RET in children <strong>of</strong> families with MEN2.<br />

J Pediatr Surg. 2007;42:326-332.<br />

31. Walker M, O’Sullivan B, Perakath B, et al. Selecting patients with<br />

young-onset colorectal cancer for mismatch repair gene analysis. Br J Surg.<br />

2007;94:1567-1571.<br />

32. Lwiwski N, Greenberg CR, Mhanni AA. Genetic testing <strong>of</strong> children at<br />

risk for adult onset conditions: when is testing indicated? J Genet Couns.<br />

2008;17:523-525.<br />

33. Seif AE. Pediatric leukemia predisposition syndromes: clues to understanding<br />

leukemogenesis. Cancer Genetics. 2011;204:227-244.<br />

34. Imh<strong>of</strong> SM, Moll AC, Schouten-van Meeteren AY. Stage <strong>of</strong> presentation<br />

and visual outcome <strong>of</strong> patients screened for familial retinoblastoma: nationwide<br />

registration in the Netherlands. Br J Ophthalmol. 2006;90:875-878.<br />

35. Kivelö T. Trilateral retinoblastoma: a meta-analysis <strong>of</strong> hereditary<br />

retinoblastoma associated with primary ectopic intracranial retinoblastoma.<br />

J Clin Oncol. 1999;17:1829-1837.<br />

36. Varley JM, Evans DG, Birch JM. Li-Fraumeni syndrome: A molecular<br />

and clinical review. Br J Cancer. 1997;76:1-14.<br />

37. Kloos RT, Eng C, Evans DB, et al. Medullary thyroid cancer: management<br />

guidelines <strong>of</strong> the <strong>American</strong> Thyroid Association. Thyroid. 2009;19:565-<br />

612.<br />

38. Skinner MA, Moley JA, Dilley WG, et al. Prophylactic thyroidectomy in<br />

multiple endocrine neoplasia type 2A. N Engl J Med. 2005;353:1105-1113.<br />

39. National Comprehensive Cancer Network. Colorectal cancer screening.<br />

NCCN <strong>Clinical</strong> Practice Guidelines in <strong>Oncology</strong>. Version 2.2011. www.nccn.<br />

org. Accessed February 6, 2011.<br />

40. Bapat B, Noorani H, Cohen Z, et al. Cost comparisons <strong>of</strong> predictive<br />

genetic testing versus conventional screening for familial adenomatous polyposis.<br />

Gut. 1999;44:698-703.<br />

41. Boon EM, Keller JJ, Wormhoudt TA, et al. Sulindac targets nuclear<br />

beta-catenin accumulation and Wnt signaling in adenomas <strong>of</strong> patients with<br />

familial adenomatous polyposis and in human colorectal cancer cell lines.<br />

Br J Cancer. 2004;90:224-229.<br />

42. Steinbach G, Lynch PM, Phillips RK, et al. The effect <strong>of</strong> celecoxib, a<br />

cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med.<br />

2000;342:1946-1952.<br />

43. Lynch PM, Ayers GD, Hawk E, et al. The safety and efficacy <strong>of</strong> celecoxib<br />

in children with familial adenomatous polyposis. Am J Gastroenterol. 2010;<br />

105:1437-1443.<br />

44. <strong>Clinical</strong>Trials.gov. Accessed March 23, <strong>2012</strong>.<br />

45. Riley BD, Culver JO, Skrzynia C, et al. Essential elements <strong>of</strong> genetic<br />

cancer risk assessment, counseling and testing: updated recommendations <strong>of</strong><br />

the National <strong>Society</strong> <strong>of</strong> Genetic Counselors. J Genetic Counsel. Epub 2011 Dec<br />

2.<br />

46. Clayton EW. Genetic testing in children. J Med Philos. 1997;22:233-<br />

251.<br />

47. Malpas PJ. Predictive genetic testing <strong>of</strong> children for adult-onset diseases<br />

and psychological harm. J Med Ethics. 2008;34:275-278.<br />

48. Tischkowitz M, Rosser E. Inherited cancer in children: practical/ethical<br />

problems and challenges. Eur J Cancer. 2004;40:2459-2470.<br />

583

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!