Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Application of Clinical Genetics

Volumn 6, Issue , 2013, Pages 53-61

  Evans, D Gareth R ^a   Ingham, Sarah Louise ^b  

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Early onset; Life expectancy; Mortality; Survival; Tumors

Indexed keywords

UVOMORULIN;

BASAL CELL NEVUS SYNDROME; CANCER PROGNOSIS; CANCER SURVIVAL; CAUSE OF DEATH; COWDEN SYNDROME; DISEASE PREDISPOSITION; FAMILIAL CANCER; FAMILIAL COLON POLYPOSIS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; JUVENILE POLYP; JUVENILE POLYPOSIS SYNDROME; LIFE EXPECTANCY; MORTALITY; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; NONHUMAN; PEUTZ JEGHERS SYNDROME; REVIEW; STOMACH CANCER; SURVIVAL PREDICTION; SURVIVAL TIME; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU DISEASE;

EID: 84880796291     PISSN: None     EISSN: 1178704X     Source Type: Journal    
DOI: 10.2147/TACG.S35605     Document Type: Review

References (77)

1. Wilding A, Ingham SL, Lalloo F, et al. Life expectancy in hereditary cancer predisposing diseases: an observational study. J Med Genet. 2012;49(4):264-269.
2. Evans DG, O'Hara C, Wilding A, et al. Mortality in neurofibromatosis 1:in North West England: an assessment of actuarial survival in a region of the UK since 1989. Eur J Hum Genet. 2011;19(11): 1187-1191.
3. Pinson S. Neurofibromatosis type 1 or von Recklinghausen's disease. Paris: Orphanet Encyclopedia; 2002. Available from: https://www.orpha.net/data/patho/Pro/en/Neurofibromatosis1-FRenPro185.pdf. Accessed July 4, 2013.
4. Duong TA, Sbidian E, Valeyrie-Allanore L, et al. Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis. 2011;6:18.
5. Masocco M, Kodra Y, Vichi M, et al. Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006). Orphanet J Rare Dis. 2011;6:11.
6. Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet.1999;89(1):1-6.
7. Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001;68(5):1110-1118.
8. Zöller ME, Rembeck B, Odén A, Samuelsson M, Angervall L. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer. 1997;79(11):2125-2131.
9. Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989;26(11):704-711.
10. Evans DG, Howard E, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010;152A(2):327-332.
11. Zöller M, Rembeck B, Akesson HO, Angervall L. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Sweden. Acta Derm Venereol. 1995;75(2):136-140.
12. Sørensen SA, Mulvihill JJ, Nielsen A. Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. N Engl J Med. 1986;314(16):1010-1015.
13. Evans DG, Huson SM, Donnai D, et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet. 1992;29(12):841-846.
14. Trofatter JA, MacCollin MM, Rutter JL, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell. 1993;72(5):791-800.
15. Baser ME, Friedman JM, Aeschliman D, et al. Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 2002;71(4): 715-723.
16. Mautner VF, Tatagiba M, Lindenau M, et al. Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. AJR Am J Roentgenol. 1995;165(4):951-955.
17. Evans DG, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84(304):603-618.
18. Nugent KP, Spigelman AD, Phillips RK. Life expectancy after colectomy and ileorectal anastomosis for familial adenomatous polyposis. Dis Colon Rectum. 1993;36(11):1059-1062.
19. Galle TS, Juel K, Bülow S. Causes of death in familial adenomatous polyposis. Scand J Gastroenterol. 1999;34(8):808-812.
20. Mallinson EK, Newton KF, Bowen J, et al. The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis. Gut. 2010;59(10):1378-1382.
21. Heiskanen I, Luostarinen T, Järvinen HJ. Impact of screening examinations on survival in familial adenomatous polyposis. Scand J Gastroenterol. 2000;35(12):1284-1287.
22. Akcaglar S, Yavascaoglu I, Vuruskan H, Oktay B. Genetic evaluation of von Hippel-Lindau disease for early diagnosis and improved prognosis. Int Urol Nephrol. 2008;40(3):615-620.
23. Maddock IR, Moran A, Maher ER, et al. A genetic register for von Hippel-Lindau disease. J Med Genet. 1996;33(2):120-127.
24. Maher ER, Yates JR, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990;77(283):1151-1163.
25. Manski TJ, Heffner DK, Glenn GM, et al. Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease. JAMA. 1997;277(18):1461-1466.
26. Evans DG, Farndon PA, Burnell LD, Gattamaneni HR, Birch JM. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer. 1991;64(5):959-961.
27. Evans DG, Ladusans E, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. 1993;30(6):460-464.
28. García de Marcos JA, Dean-Ferrer A, Arroyo Rodríguez S, Calderón Polanco J, Alamillos Granados FJ, Poblet E. Basal cell nevus syndrome: clinical and genetic diagnosis. Oral Maxillofac Surg. 2009;13(4):225-230.
29. Dean PG, van Heerden JA, Farley DR, et al. Are patients with multiple endocrine neoplasia type I prone to premature death? World J Surg. 2000;24(11):1437-1441.
30. Ebeling T, Vierimaa O, Kytölä S, Leisti J, Salmela PI. Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations. J Clin Endocrinol Metab. 2004;89(7):3392-3396.
31. Cupisti K, Wolf A, Raffel A, et al. Long-term clinical and biochemical follow-up in medullary thyroid carcinoma: a single institution's experience over 20 years. Ann Surg. 2007;246(5):815-821.
32. Machens A, Lorenz K, Sekulla C, et al. Molecular epidemiology of multiple endocrine neoplasia 2: implications for RET screening in the new millenium. Eur J Endocrinol. 2013;168(3):307-314.
33. Spigelman AD, Murday V, Phillips RK. Cancer and the Peutz-Jeghers syndrome. Gut. 1989;30(11):1588-1590.
34. van Lier MG, Westerman AM, Wagner A, et al. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut. 2011;60(2):141-147.
35. McColl I, Busxey HJ, Veale AM, Morson BC. Juvenile polyposis coli. Proc R Soc Med. 1964;57:896-897.
36. Johnston GW, Eakins D, Gough AD. Juvenile polyposis coli. Ulster Med J. 1968;37(2):170-174.
37. Delnatte C, Sanlaville D, Mougenot JF, et al. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumorsuppressor genes. Am J Hum Genet. 2006;78(6):1066-1074.
38. Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 1998;280(5366):1086-1088.
39. Dunlop MG; British Society for Gastroenterology; Association of Coloproctology for Great Britain and Ireland. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut. 2002;51(Suppl 5):V21-V27.
40. Brosens LAA, van Hattern A, Hylind LM, et al. Risk of colorectal in juvenile polyposis. Gut. 2007;56(7):965-967.
41. Nelen MR, Kremer H, Konings IB, et al. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet. 1999;7(3):267-273.
42. Nelen MR, Padberg GW, Peeters EA, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet. 1996;13(1):114-116.
43. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000;37(11):828-830.
44. Hanssen AM, Fryns JP. Cowden syndrome. J Med Genet. 1995;32(2): 117-119.
45. Squarize CH, Castilho RM, Gutkind JS. Chemoprevention and treatment of experimental Cowden's disease by mTOR inhibition with rapamycin. Cancer Res. 2008;68(17):7066-7072.
46. Simpson L, Parsons R. PTEN: life as a tumor suppressor. Exp Cell Res. 2001;264(1):29-41.
47. Varley JM, Evans DG, Birch JM. Li-Fraumeni syndrome - a molecular and clinical review. Br J Cancer. 1997;76(1):1-14.
48. Mai PL, Malkin D, Garber JE, et al. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. Cancer Genet. 2012;205(10):479-487.
49. Villani A, Tabori U, Schiffman J, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol. 2011;12(6):559-567.
50. de Jong AE, Hendriks YM, Kleibeuker JH, et al. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology. 2006;130(3):665-671.
51. Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA. 2006;296(12):1507-1517.
52. Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med. 2009;11(1):42-65.
53. Järvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118(5):829-834.
54. de Vos tot Nederveen Cappel WH, Buskens E, van Duijvendijk P, et al. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut. 2003;52(12):1752-1755.
55. Chun YS, Lindor NM, Smyrk TC, et al. Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated? Cancer. 2001;92(1):181-187.
56. Berx G, Becker KF, Höfler H, van Roy F. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat. 1998;12(4):226-237.
57. Wanebo HJ, Kennedy BJ, Chmiel J, Steele G, Winchester D, Osteen R. Cancer of the stomach. A patient care study by the American College of Surgeons. Ann Surg. 1993;218(5):583-592.
58. Guildford P, Hopkins J, Harraway J, et al. E-cadherin germline mutations in familial gastric cancer. Nature.1998;392(6674):402-405.
59. Norton JA, Ham CM, Van Dam J, et al. CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg. 2007;245(6): 873-879.
60. Fitzgerald RC, Hardwick R, Huntsman D, et al; International Gastric Cancer Linkage Consortium. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010;47(7):436-444.
61. Brooks-Wilson AR, Kaurah P, Suriano G, et al. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet. 2004;41(7):508-517.
62. Lynch HT, Kaurah P, Wirtzfeld D, et al. Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy. Cancer. 2008;112(12):2655-2663.
63. Schrag D, Kuntz KM, Garber JE, Weeks JC. Decision analysis - effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations. N Engl J Med. 1997;336(20):1465-1471.
64. Kurian AW, Munoz DF, Rust P, et al. Online tool to guide decisions for BRCA1/2 mutation carriers. J Clin Oncol. 2012;30(5):497-506.
65. Sigal BM, Munoz DF, Kurian AW, Plevritis SK. A simulation model to predict the impact of prophylactic surgery and screening on the life expectancy of BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012;21(7):1066-1077.
66. Byrd LM, Shenton A, Maher ER, et al. Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer. Cancer Epidemiol Biomarkers Prev. 2008;17(6):1535-1542.
67. Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304(9):967-975.
68. Domchek SM, Friebel TM, Neuhausen SL, et al. Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol. 2006;7(3):223-229.
69. Møller P, Borg A, Evans DG, et al. Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy. Int J Cancer. 2002;101(6):555-559.
70. Rebbeck TR, Lynch HT, Neuhausen SL, et al; Prevention and Observation of Surgical End Points Study Group. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med. 2002;346(21):1616-1622.
71. Evans DG, Susnerwala I, Dawson J, Woodward E, Maher ER, Lalloo F. Risk of breast cancer in male BRCA2 carriers. J Med Genet. 2010;47(10):710-711.
72. Moran A, O'Hara C, Khan S, et al. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer. 2012;11(2):235-242.
73. Newton K, Hill J. 5-FU and mismatch repair deficient colorectal cancer: is it time to consider a change in practice? Colorectal Dis. 2010;12(7):706-707.
74. Grindedal EM, Renkonen-Sinisalo L, Vasen H, et al. Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. J Med Genet. 2010;47(2):99-102.
75. Varley JM, McGown G, Thorncroft M, et al. An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. J Med Genet. 1995;32(12):942-945.
76. Singhal S, Birch JM, Kerr B, Lashford L, Evans DG. Neurofibromatosis type 1 and sporadic optic gliomas. Arch Dis Child. 2002;87(1): 65-70.
77. Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002;39(5):311-314.