Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia

Kenneth Offit, Orna Levran, Brian Mullaney, Katherine Mah, Khedoudja Nafa, Sat Dev Batish, Raffaella Diotti, Hildegard Scheider, Amie Deffenbaugh, Thomas Scholl, Virginia K. Proud, Mark Robson, Larry Norton, Nathan Ellis, Helmut Hanenberg, Arleen D. Auerbach

Research output: Contribution to journalArticlepeer-review

159 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1548-1551
Number of pages4
JournalJournal of the National Cancer Institute
Issue number20
StatePublished - Oct 15 2003

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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