Skip to main content
Grant Details

Grant Number: 7R01CA082678-04 Interpret this number
Primary Investigator: Berwick, Marianne
Organization: University Of New Mexico
Project Title: The Risk of Cancer in Fanconi Anemia Heterozygotes
Fiscal Year: 2004


DESCRIPTION: Fanconi anemia (FA) homozygotes have an increased cancer predisposition. In addition to the extraordinarily high frequency of AML in FA patients (actuarial risk of 52 percent for the development of MDS and/or AML by 40 years of age), FA patients exhibit malignancies of a variety of organ systems, most commonly gastrointestinal and gynecologic. The high incidence of nonhematologic malignancy in FA patients is especially striking because of the predicted early death from hematologic causes associated with the syndrome. Thus patients are unusually young when they develop cancer, and the incidence of malignancy probably would be considerably higher if patients had a longer life expectancy. There is evidence that heterozygote carriers of homozygous recessive familial cancer syndromes, such as Fanconi anemia, ataxia telangiectasia and xeroderma pigmentosum, are at increased risk for cancer. It is now possible to ascertain the carrier status by means of molecular tests rather than impute carrier status through probabilities, and thus it may be possible to arrive at a definitive answer to the role of heterozygosity among Fanconi anemia carriers. This study will directly address the etiology of cancer that involves the role of Fanconi anemia heterozygosity. The major aim of this retrospective cohort study will be to evaluate whether FA heterozygotes are at increased risk for developing cancer. In order to address this aim this study will use the extensive resources of the International Fanconi Anemia Registry at Rockefeller University. The sample will consist of 758 Fanconi anemia heterozygote grandparents of FA probands and 758 grandparents who do not carry an FA allele. Risk factor information will be obtained by questionnaire, blood will be collected for DNA analysis, and diagnostic pathology information will be collected using a systematic approach. Analyses will be undertaken to evaluate the role of Fanconi anemia heterozygosity for cancer. If carriers are found to be at increased risk, this information can be used to target individuals for cancer prevention strategies.


Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer.
Authors: Berwick M. , Satagopan J.M. , Ben-Porat L. , Carlson A. , Mah K. , Henry R. , Diotti R. , Milton K. , Pujara K. , Landers T. , et al. .
Source: Cancer research, 2007-10-01; 67(19), p. 9591-6.
PMID: 17909071
Related Citations

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Authors: Kalb R. , Neveling K. , Hoehn H. , Schneider H. , Linka Y. , Batish S.D. , Hunt C. , Berwick M. , Callen E. , Surralles J. , et al. .
Source: American journal of human genetics, 2007 May; 80(5), p. 895-910.
EPub date: 2007-04-06.
PMID: 17436244
Related Citations

FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.
Authors: Ling C. , Ishiai M. , Ali A.M. , Medhurst A.L. , Neveling K. , Kalb R. , Yan Z. , Xue Y. , Oostra A.B. , Auerbach A.D. , et al. .
Source: The EMBO journal, 2007-04-18; 26(8), p. 2104-14.
EPub date: 2007-03-29.
PMID: 17396147
Related Citations

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
Authors: Reid S. , Schindler D. , Hanenberg H. , Barker K. , Hanks S. , Kalb R. , Neveling K. , Kelly P. , Seal S. , Freund M. , et al. .
Source: Nature genetics, 2007 Feb; 39(2), p. 162-4.
EPub date: 2006-12-31.
PMID: 17200671
Related Citations

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.
Authors: Chandra S. , Levran O. , Jurickova I. , Maas C. , Kapur R. , Schindler D. , Henry R. , Milton K. , Batish S.D. , Cancelas J.A. , et al. .
Source: Molecular therapy : the journal of the American Society of Gene Therapy, 2005 Nov; 12(5), p. 976-84.
EPub date: 2005-08-09.
PMID: 16084127
Related Citations

A note on competing risks in survival data analysis.
Authors: Satagopan J.M. , Ben-Porat L. , Berwick M. , Robson M. , Kutler D. , Auerbach A.D. .
Source: British journal of cancer, 2004-10-04; 91(7), p. 1229-35.
PMID: 15305188
Related Citations

Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients.
Authors: Kutler D.I. , Wreesmann V.B. , Goberdhan A. , Ben-Porat L. , Satagopan J. , Ngai I. , Huvos A.G. , Giampietro P. , Levran O. , Pujara K. , et al. .
Source: Journal of the National Cancer Institute, 2003-11-19; 95(22), p. 1718-21.
PMID: 14625263
Related Citations

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).
Authors: Kutler D.I. , Singh B. , Satagopan J. , Batish S.D. , Berwick M. , Giampietro P.F. , Hanenberg H. , Auerbach A.D. .
Source: Blood, 2003-02-15; 101(4), p. 1249-56.
EPub date: 2002-09-26.
PMID: 12393516
Related Citations

High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia.
Authors: Kutler D.I. , Auerbach A.D. , Satagopan J. , Giampietro P.F. , Batish S.D. , Huvos A.G. , Goberdhan A. , Shah J.P. , Singh B. .
Source: Archives of otolaryngology--head & neck surgery, 2003 Jan; 129(1), p. 106-12.
PMID: 12525204
Related Citations

Back to Top