Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia Journal Article
| Authors: | Offit, K.; Levran, O.; Mullaney, B.; Mah, K.; Nafa, K.; Batish, S. D.; Diotti, R.; Scheider, H.; Deffenbaugh, A.; Scholl, T.; Proud, V. K.; Robson, M.; Norton, L.; Ellis, N.; Hanenberg, H.; Auerbach, A. D. |
| Article Title: | Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia |
| Abstract: | Fanconi anemia is an inherited disease characterized by bone marrow failure, congenital malformations, and predisposition to cancer. The breast cancer susceptibility gene BRCA2 was recently found to be associated with Fanconi anemia complementation group D1 (FA-D1). We examined four kindreds afflicted with Fanconi anemia for the presence of germline BRCA2 mutations. One kindred, of Ashkenazi Jewish ancestry, had five members who were diagnosed with breast cancer and two cousins who were BRCA2*6174delT/ C3069X compound heterozygotes and had Fanconi anemia and brain tumors. In another kindred of Ashkenazi Jewish and Lithuanian Catholic ancestry, a child with Fanconi anemia and a medulloblastoma was a BRCA2*6174delT/886delGT compound heterozygote. Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X. Median age of the Fanconi anemia-afflicted children at brain tumor diagnosis was 3.5 years. The co-occurrence of brain tumors, Fanconi anemia, and breast cancer observed in one of these kindreds constitutes a new syndromic association. Individuals who carry a germline BRCA2 mutation and who plan to have children with a partner of Ashkenazi Jewish descent should consider undergoing genetic counseling. |
| Keywords: | child; clinical article; controlled study; preschool child; child, preschool; gene mutation; genetics; mutation; clinical feature; brain tumor; brain neoplasms; allele; cancer susceptibility; disease association; genetic predisposition to disease; breast cancer; alleles; breast neoplasms; brca2 protein; heterozygote; pedigree; tumor suppressor gene; register; registries; syndrome; heterozygosity; genes, brca2; genetic susceptibility; gene identification; breast tumor; medulloblastoma; genetic predisposition; jews; religion; germ-line mutation; jew; genetic counseling; bone marrow disease; fanconi anemia; congenital malformation; humans; human; male; female; priority journal; article |
| Journal Title: | JNCI: Journal of the National Cancer Institute |
| Volume: | 95 |
| Issue: | 20 |
| ISSN: | 0027-8874 |
| Publisher: | Oxford University Press |
| Date Published: | 2003-10-15 |
| Start Page: | 1548 |
| End Page: | 1551 |
| Language: | English |
| PUBMED: | 14559878 |
| PROVIDER: | scopus |
| DOI: | 10.1093/jnci/djg072 |
| DOI/URL: | |
| Notes: | Export Date: 12 September 2014 -- Source: Scopus |
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