ArticleOncogene2004
Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.
Article in Oncogene, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
57 citing papers in PubMed, 153 citations in OpenAlex.
- Genetic, cellular, and environmental factors influencing tumourigenesis in carriers of succinate dehydrogenase germline mutations.Endocrine-related cancer · 2026Review
- Strand-seq and the future of personalized genomics.Nature genetics · 2026Review
- Complex landscape of somatic copy number alterations in head and neck paragangliomas.Frontiers in endocrinology · 2026Article
- Article
- New Insights into the Clinical Characterization of SDHAF2-related Familial Paraganglioma Syndrome.The Journal of clinical endocrinology and metabolism · 2025Article
- Knowledge-Based Therapeutics for Tricarboxylic Acid (TCA) Cycle-Deficient Cancers.Cold Spring Harbor perspectives in medicine · 2024Review
- Comprehensive Genetic Study of Malignant Cervical Paraganglioma.International journal of molecular sciences · 2023Article
- Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq.Cell genomics · 2023Article
- TheInternational journal of molecular sciences · 2022Article
- Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.Endocrine-related cancer · 2022Review
- Somatic Mutation Profiling in Head and Neck Paragangliomas.The Journal of clinical endocrinology and metabolism · 2022Article
- Review
- Article
- Contemporary management of paragangliomas of the head and neck.Laryngoscope investigative otolaryngology · 2022Review
- Long-term in vitro 2D-culture of SDHB and SDHD-related human paragangliomas and pheochromocytomas.PloS one · 2022Article
- High throughput proteomic and metabolic profiling identified target correction of metabolic abnormalities as a novel therapeutic approach in head and neck paraganglioma.Translational oncology · 2021Article
- Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors.Case reports in endocrinology · 2020Article
- Pheochromocytomas and Paragangliomas: New Developments with Regard to Classification, Genetics, and Cell of Origin.Cancers · 2019Review
- Review
- Identification of new Wilms tumour predisposition genes: an exome sequencing study.The Lancet. Child & adolescent health · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in succinate dehydrogenase subunits B, C and D (SDHB, SDHC and SDHD), genes encoding subunits of mitochondrial complex II, cause hereditary paragangliomas and phaeochromocytomas. In SDHB (1p36)- and SDHC (1q21)-linked families, disease inheritance is autosomal dominant. In SDHD (11q23)-linked families, the disease phenotype is expressed only upon paternal transmission of the mutation, consistent with maternal imprinting. However, SDHD shows biallelic expression in brain, kidney and lymphoid tissues (Baysal et al., 2000). Moreover, consistent loss of the wild-type (wt) maternal allele in SDHD-linked tumours suggests expression of the maternal SDHD allele in normal paraganglia. Here we demonstrate exclusive loss of the entire maternal chromosome 11 in SDHD-linked paragangliomas and phaeochromocytomas, suggesting that combined loss of the wt SDHD allele and maternal 11p region is essential for tumorigenesis. We hypothesize that this is driven by selective loss of one or more imprinted genes in the 11p15 region. In paternally, but not in maternally derived SDHD mutation carriers, this can be achieved by a single event, that is, non-disjunctional loss of the maternal chromosome 11. Thus, the exclusive paternal transmission of the disease can be explained by a somatic genetic mechanism targeting both the SDHD gene on 11q23 and a paternally imprinted gene on 11p15.5, rather than imprinting of SDHD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.