ArticlePLoS genetics2016
A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 23 citations in OpenAlex.
- Familial lymphoma and genetic predisposition: an updated review.BMC medical genomics · 2026Review
- Head and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder.Cancers · 2025Review
- Whole exome sequencing of a novel homozygous missense variant inBiomedical reports · 2024Article
- FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.Blood advances · 2024Article
- Management of Fanconi anemia beyond childhood.Hematology. American Society of Hematology. Education Program · 2023Review
- The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelicFrontiers in oncology · 2023Review
- Expression patterns and therapeutic implications of CDK4 across multiple carcinomas: a molecular docking and MD simulation study.Medical oncology (Northwood, London, England) · 2022Article
- Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.The Journal of pathology · 2022Article
- A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.Genome medicine · 2021Article
- Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).Cancer genetics · 2021Article
- Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.NPJ breast cancer · 2021Article
- Germline variants discovered in lymphoma patients undergoing tumor profiling: a case series.Familial cancer · 2021Article
- Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphicCold Spring Harbor molecular case studies · 2020Article
- Functional Characterization ofFrontiers in molecular biosciences · 2020Review
- Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.Journal of medical genetics · 2019Article
- Evidence of Intertissue Differences in the DNA Damage Response and the Pro-oncogenic Role of NF-κB in Mice with Disengaged BRCA1-PALB2 Interaction.Cancer research · 2018Article
- Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.Wellcome open research · 2017Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
Patients with biallelic truncating mutations in PALB2 have a severe form of Fanconi anaemia (FA-N), with a predisposition for developing embryonal-type tumours in infancy. Here we describe two unusual patients from a single family, carrying biallelic PALB2 mutations, one truncating, c.1676_1677delAAinsG;(p.Gln559ArgfsTer2), and the second, c.2586+1G>A; p.Thr839_Lys862del resulting in an in frame skip of exon 6 (24 amino acids). Strikingly, the affected individuals did not exhibit the severe developmental defects typical of FA-N patients and initially presented with B cell non-Hodgkin lymphoma. The expressed p.Thr839_Lys862del mutant PALB2 protein retained the ability to interact with BRCA2, previously unreported in FA-N patients. There was also a large increased chromosomal radiosensitivity following irradiation in G2 and increased sensitivity to mitomycin C. Although patient cells were unable to form Rad51 foci following exposure to either DNA damaging agent, U2OS cells, in which the mutant PALB2 with in frame skip of exon 6 was induced, did show recruitment of Rad51 to foci following damage. We conclude that a very mild form of FA-N exists arising from a hypomorphic PALB2 allele.
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