Fanconi anaemia, BRCA2 mutations and childhood cancer: A developmental perspective from clinical and epidemiological observations with implications for genetic counselling

Journal of Medical Genetics

Volumn 51, Issue 2, 2014, Pages 71-75

  Meyer, Stefan ^a,b,c,d   Tischkowitz, Marc ^e   Chandler, Kate ^a,f,g   Gillespie, Alan ^h,i   Birch, Jillian M ^a,d   Evans, D Gareth ^f,g  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c CHRISTIE HOSPITAL   (United Kingdom)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h SHEFFIELD TEACHING HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

ⁱ Fanconi Hope Charity   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CANCER: BREAST; GENETIC EPIDEMIOLOGY; HAEMATOLOGY (INCL BLOOD TRANSFUSION);

FANCONI ANEMIA; GENE FREQUENCY; GENES, BRCA2; GENETIC COUNSELING; HUMANS; INCIDENCE; MUTATION; NEOPLASMS;

EID: 84894062776     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101642     Document Type: Review

References (45)

1. Neveling K, Endt D, Hoehn H, Schindler D. Genotype-phenotype correlations in Fanconi anemia. Mutat Res 2009;668:73-91.
2. Moldovan GL, D'Andrea AD. To the rescue: the Fanconi anemia genome stability pathway salvages replication forks. Cancer Cell 2012;22:5-6.
3. Kim H, D'Andrea AD. Regulation of DNA cross-link repair by the Fanconi anemia/ BRCA pathway. Genes Dev 2012;26:1393-408.
4. Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res 2009;668:4-10.
5. de Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res 2009;668:11-19.
6. Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D, Freund M, Lichtner P, Hartmann L, Schaal H, Ramser J, Honisch E, Kubisch C, Wichmann HE, Kast K, Deissler H, Engel C, Muller-Myhsok B, Neveling K, Kiechle M, Mathew CG, Schindler D, Schmutzler RK, Hanenberg H. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 2010;42:410-4.
7. Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet 2010;42:406-9.
8. Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007;39:162-4.
9. Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, de Winter JP. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 2007;39:159-61.
10. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Easton DF, Stratton MR. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007;39:165-7.
11. Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica 2008;93:511-7.
12. Alter BP, Greene MH, Velazquez I, Rosenberg PS. Cancer in Fanconi anemia. Blood 2003;101:2072.
13. Foulkes WD. Inherited susceptibility to common cancers. N Engl J Med 2008;359:2143-53.
14. Giri N, Batista DL, Alter BP, Stratakis CA. Endocrine abnormalities in patients with Fanconi anemia. J Clin Endocrinol Metab 2007;92:2624-31.
15. Bodd TL, Van Ghelue M, Eiklid K, Ruud E, Moller P, Maehle L. Fanconi anaemia, BRCA2 and familial considerations-follow up on a previous case report. Acta Paediatr 2010.
16. Dewire MD, Ellison DW, Patay Z, McKinnon PJ, Sanders RP, Gajjar A. Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor. Pediatr Blood Cancer 2009;53:1140-2.
17. Faivre L, Portnoi MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A, Baumann C. Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 2005;137:55-8.
18. Hirsch B, Shimamura A, Moreau L, Baldinger S, Hag-alshiekh M, Bostrom B, Sencer S, D'Andrea AD. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood 2004;103:2554-9.
19. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002;297:606-9.
20. Kopic S, Eirich K, Schuster B, Hanenberg H, Varon-Mateeva R, Rittinger O, Schimpl G, Schindler D, Jones N. Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. Acta Paediatr 2011;100:780-3.
21. Meyer S, Fergusson WD, Oostra AB, Medhurst AL, Waisfisz Q, de Winter JP, Chen F, Carr TF, Clayton-Smith J, Clancy T, Green M, Barber L, Eden OB, Will AM, Joenje H, Taylor GM. A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations. Genes Chromosomes Cancer 2005;42:404-15.
22. Myers K, Davies SM, Harris RE, Spunt SL, Smolarek T, Zimmerman S, McMasters R, Wagner L, Mueller R, Auerbach AD, Mehta PA. The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. Pediatr Blood Cancer 2012;58:462-5.
23. Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst 2003;95:1548-51.
24. Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Luthy A, Rahman N. Biallelic BRCA2 mutations are associatedwith multiple malignancies in childhood including familial Wilms tumour. J Med Genet 2005;42:147-51.
25. Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, MacMillan ML, Hanenberg H, Auerbach AD. Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood 2004;103:3226-9.
26. Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H. X-linked inheritance of Fanconi anemia complementation group B. Nat Genet 2004;36:1219-24.
27. Biswas K, Das R, Alter BP, Kuznetsov SG, Stauffer S, North SL, Burkett S, Brody LC, Meyer S, Byrd RA, Sharan SK. A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. Blood 2011;118:2430-42.
28. Oddoux C, Struewing JP, Clayton CM, Neuhausen S, Brody LC, Kaback M, Haas B, Norton L, Borgen P, Jhanwar S, Goldgar D, Ostrer H, Offit K. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet 1996;14:188-90.
29. Friedman E, Kotsopoulos J, Lubinski J, Lynch HT, Ghadirian P, Neuhausen SL, Isaacs C, Weber B, Foulkes WD, Moller P, Rosen B, Kim-Sing C, Gershoni-Baruch R, Ainsworth P, Daly M, Tung N, Eisen A, Olopade OI, Karlan B, Saal HM, Garber JE, Rennert G, Gilchrist D, Eng C, Offit K, Osborne M, Sun P, Narod SA. Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers. Breast Cancer Res 2006;8:R15.
30. Skoulidis F, Cassidy LD, Pisupati V, Jonasson JG, Bjarnason H, Eyfjord JE, Karreth FA, Lim M, Barber LM, Clatworthy SA, Davies SE, Olive KP, Tuveson DA, Venkitaraman AR. Germline Brca2 heterozygosity promotes Kras(G12D) -driven carcinogenesis in a murine model of familial pancreatic cancer. Cancer Cell 2010;18:499-509.
31. Janavicius R. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J 2010;1:397-412.
32. Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, Easton DF, Evans C, Deacon J, Stratton MR. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 1999;91:943-9.
33. Song CG, Hu Z, Wu J, Luo JM, Shen ZZ, Huang W, Shao ZM. The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer. J Cancer Res Clin Oncol 2006;132:617-26.
34. Grzybowska E, Zientek H, Jasinska A, Rusin M, Kozlowski P, Sobczak K, Sikorska A, Kwiatkowska E, Gorniak L, Kalinowska E, Utracka-Hutka B, Wloch J, Chmielik E,Krzyzosiak WJ. High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer. Hum Mutat 2000;16:482-90.
35. Ikeda N, Miyoshi Y, Yoneda K, Shiba E, Sekihara Y, Kinoshita M, Noguchi S. Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. Int J Cancer 2001;91:83-8.
36. Wang F, Fang Q, Ge Z, Yu N, Xu S, Fan X. Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review. Mol Biol Rep 2012;39:2109-18.
37. Lalloo F, Varley J, Ellis D, Moran A, O'Dair L, Pharoah P, Evans DG. Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet 2003;361:1101-2.
38. Evans DG, Neuhausen SL, Bulman M, Young K, Gokhale D, Lalloo F. Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families. J Med Genet 2004;41:e21.
39. Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjord JE. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 1996;13:117-19.
40. Thorlacius S, Sigurdsson S, Bjarnadottir H, Olafsdottir G, Jonasson JG, Tryggvadottir L, Tulinius H, Eyfjord JE. Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 1997;60:1079-84.
41. Evans DG, Bulman M, Young K, Gokhale D, Lalloo F. High detection rate for BRCA2 mutations in male breast cancer families from North West England. Fam Cancer 2001;1:131-3.
42. Alter BP, Rosenberg PS, Brody LC. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet 2007;44:1-9.
43. Smetsers S, Muter J, Bristow C, Patel L, Chandler K, Bonney D, Wynn RF, Whetton AD, Will AM, Rockx D, Joenje H, Strathdee G, Shanks J, Klopocki E, Gille JJ, Dorsman J, Meyer S. Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. Fam Cancer 2012;11:661-5.
44. Brooks GA, Stopfer JE, Erlichman J, Davidson R, Nathanson KL, Domchek SM. Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic. Cancer Biol Ther 2006;5:1098-102.
45. Kauff ND, Perez-Segura P, Robson ME, Scheuer L, Siegel B, Schluger A, Rapaport B, Frank TS, Nafa K, Ellis NA, Parmigiani G, Offit K. Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. J Med Genet 2002;39:611-4.