Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

Familial Cancer

Volumn 11, Issue 4, 2012, Pages 661-665

  Smetsers, Stephanie ^a   Muter, Joanne ^b   Bristow, Claire ^b   Patel, Leena ^c   Chandler, Kate ^c   Bonney, Denise ^c   Wynn, Robert F ^c   Whetton, Anthony D ^b   Will, Andrew M ^c   Rockx, Davy ^a   Joenje, Hans ^a   Strathdee, Gordon ^d   Shanks, Jonathan ^e   Klopocki, Eva ^f   Gille, Johan J P ^a   Dorsman, Josephine ^a   Meyer, Stefan ^b,c  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e CHRISTIE HOSPITAL   (United Kingdom)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

FANCD2; Fanconi anaemia; Leukaemia; Seminoma; Systemic Lupus erythematodous; T Cell ALL

Indexed keywords

FANCONI ANEMIA GROUP D2 PROTEIN;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; ADULT; ALLELE; ARTICLE; CANCER RADIOTHERAPY; CANCER RISK; CASE REPORT; CHILD; CHILDHOOD LEUKEMIA; DNA DAMAGE; DNA DAMAGE RESPONSE; FANCONI ANEMIA; GENE LOSS; GENE MUTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MUTATIONAL ANALYSIS; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEMINOMA; SQUAMOUS CELL CARCINOMA; SYSTEMIC LUPUS ERYTHEMATOSUS; T CELL LEUKEMIA; WESTERN BLOTTING;

BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP D2 PROTEIN; FEMALE; HETEROZYGOTE; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MUTATION; PRECURSOR T-CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROGNOSIS; SEMINOMA; TESTICULAR NEOPLASMS;

EID: 84870475682     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9553-3     Document Type: Article

References (21)

1. de Winter JP, Joenje H (2009) The genetic and molecular basis of Fanconi anemia. Mutat Res 668(1-2):11-19
2. Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A (2010) Mutations of the SLX4 gene in Fanconi anemia. Nat Genet 43(2):142-146
3. Stoepker C, Hain K, Schuster B et al (2010) SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nat Genet 43(2):138-141
4. Vaz F, Hanenberg H, Schuster B et al (2010) Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet 42(5):406-409
5. Rosenberg PS, Alter BP, Ebell W (2008) Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica 93(4):511-517 (Pubitemid 351536378)
6. Rosenberg PS, Greene MH, Alter BP (2003) Cancer incidence in persons with Fanconi anemia. Blood 101(3):822-826 (Pubitemid 36139345)
7. Tischkowitz M, Dokal I (2004) Fanconi anaemia and leukaemia -clinical and molecular aspects. Br J Haematol 126(2): 176-191 (Pubitemid 38961936)
8. Wooster R, Neuhausen SL, Mangion J et al (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science (New York, NY 265(5181)): 2088-2090 (Pubitemid 24325690)
9. Rahman N, Seal S, Thompson D et al (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39(2):165-167 (Pubitemid 46184346)
10. Meindl A, Hellebrand H, Wiek C et al (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42(5):410-414
11. Rafnar T, Gudbjartsson DF, Sulem P et al (2011) Mutations in BRIP1 confer high risk of ovarian cancer. Nat genet 43(11): 1104-1107.doi:10.1038/ng.955 ng.955
12. Foulkes WD (2008) Inherited susceptibility to common cancers. N Engl J Med 359(20):2143-2153. doi:10.1056/NEJMra0802968
13. Ameziane N, Errami A, Leveille F et al (2008) Genetic subtyping of Fanconi anemia by comprehensive mutation screening. Hum Mutat 29(1):159-166
14. Borriello A, Locasciulli A, Bianco AM et al (2007) A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia. Leukemia 21(1):72-78 (Pubitemid 44921837)
15. Kalb R, Neveling K, Hoehn H et al (2007) Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet 80(5):895-910 (Pubitemid 46668458)
16. LeBron C, Pal P, Brait M et al (2011) Genome-wide analysis of genetic alterations in testicular primary seminoma using high resolution single nucleotide polymorphism arrays. Genomics 97(6):341-349
17. Alter BP, Rosenberg PS, Brody LC (2007) Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet 44(1):1-9 (Pubitemid 46142832)
18. Rischewski JR, Clausen H, Leber V et al (2000) A heterozygous frameshift mutation in the Fanconi anemia C gene in familial T-ALL and secondary malignancy. Klin Padiatr 212(4):174-176 (Pubitemid 30654812)
19. Holzel M, van Diest PJ, Bier P et al (2003) FANCD2 protein is expressed in proliferating cells of human tissues that are cancerprone in Fanconi anaemia. J Pathol 201(2):198-203 (Pubitemid 37258930)
20. Lin YJ, Lan YC, Wan L et al (2010) The NBS1 genetic polymorphisms and the risk of the systemic lupus erythematosus in Taiwanese patients. J Clin Immunol 30(5):643-648
21. Davies RC, Pettijohn K, Fike F et al (2011) DNA double strand break repair is defective in pediatric systemic lupus erythematosus. Arthr Rheum