Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer.

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Research Abstract Details 

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Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Abstract Text:

Marianne Berwick,Jaya M Satagopan,Leah Ben-Porat,Ann Carlson,Katherine Mah,Rashida Henry,Raffaella Diotti,Kelly Milton,Kanan Pujara,Tom Landers,Sat Dev Batish, Morales,Detlev Schindler,Helmut Hanenberg,Robert Hromas,Orna Levran,Arleen D Auerbach,

Fanconi anemia (FA) is a rare autosomal recessive disease characterized by a greatly increased risk of cancer among those diagnosed with the syndrome. The question as to whether FA heterozygotes are at increased risk for cancer is of great importance to those at risk for being a carrier. To address this question, we formed a cohort of grandparents of probands identified through the International Fanconi Anemia Registry. We obtained informed consent, a short questionnaire, and either blood or buccal swab DNA. After diagnosis of the proband was confirmed and complementation studies or DNA sequencing on the proband were completed, mutation analyses of the putative carriers and noncarriers was carried out. Standardized incidence ratios (SIR) were calculated to compare the observed cancer incidence of the grandparents and other relatives with the expected rates of cancer, using the Surveillance, Epidemiology, and End Results registries and the Connecticut Cancer registry. In the 944 study subjects who participated (784 grandparents and 160 other relatives), there was no suggestion of an increase in overall cancer incidence. On the other hand, a significantly higher rate of breast cancer than expected was observed among carrier grandmothers [SIR, 1.7; 95% confidence interval (95% CI), 1.1-2.7]. Among the grandmothers, those who were carriers of FANCC mutations were found to be at highest risk (SIR, 2.4; 95% CI, 1.1-5.2). Overall, there was no increased risk for cancer among FA heterozygotes in this study of Fanconi relatives, although there is some evidence that FANCC mutations are possibly breast cancer susceptibility alleles.

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Publishing Authors By Initials

M Berwick,JM Satagopan,L Ben-Porat,A Carlson,K Mah,R Henry,R Diotti,K Milton,K Pujara,T Landers,S Dev Batish,J Morales,D Schindler,H Hanenberg,R Hromas,O Levran,AD Auerbach,

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Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Cancer research

VOLUME: 67

Page Numbers: 9591-6

Journal Abbreviation: Cancer Res.

ISSN: 0008-5472

DAY: 1

MONTH: Oct

YEAR: 2007

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LANGUAGE: eng

NlmUniqueID: 2984705

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Grant and Affiliation Information for Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer.

AFFILIATION: Cancer Research and Treatment Center/Internal Medicine, University of New Mexico, Albuquerque, New Mexico, USA.

Country: United States

AGENCY: United States NCRR

GRANT: UL1RR024143

ACRONYM: RR

MEDLINETA: Cancer Res

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