ArticleFamilial cancer2012
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma.
Article in Familial cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 23 citations in OpenAlex.
- Multi-omics analysis in suspected hereditary breast and ovarian cancer cases reveals novel candidate susceptibility factors.NPJ breast cancer · 2026Article
- Pancreatic Neuroendocrine Tumor: The Case Report of a Patient with GermlineJournal of clinical medicine · 2024Article
- Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.Pediatric research · 2024Article
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.Frontiers in oncology · 2022Review
- Novel diagnostic approaches for Fanconi anemia (FA) by single-cell sequencing and capillary nano-immunoassay.Blood science (Baltimore, Md.) · 2021Article
- Chromosome instability syndromes.Nature reviews. Disease primers · 2019Review
- Article
- Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption.Cell death & disease · 2017Article
- [Association between clinical outcome and gene mutation in children with Fanconi anemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Update of the human and mouse Fanconi anemia genes.Human genomics · 2015Review
- Molecular pathways: turning proteasomal protein degradation into a unique treatment approach.Clinical cancer research : an official journal of the American Association for Cancer Research · 2014Article
- Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients.BMC medical genomics · 2014Article
- Advances in the understanding of Fanconi Anemia Complementation Group D2 Protein (FANCD2) in human cancer.Cancer cell & microenvironmentArticle
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Authors and funding
17 authors at 8 institutions in 3 countries.
Funding
Abstract
Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities characterised by cellular cross linker hypersensitivity. FA is caused by mutations in any of so far 15 identified FANC genes, which encode proteins that interact in a common DNA damage response (DDR) pathway. Individuals with FA have a high risk of developing acute myeloid leukaemia (AML) and squamous cell carcinoma. An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/FANCO and link the FA pathway to inherited breast and ovarian cancer. We describe a pedigree with FANCD2 mutations c.458T > C (p.Leu153Ser) and c.2715 + 1G > A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father. Both FANCD2 alleles were present in the T Cell ALL and the seminoma. This links specific FANCD2 mutations to T cell ALL and seminoma without evidence of allelic loss in the tumour tissue.
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