Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients

Genes, Chromosomes & Cancer
James B MassengillMohamed H Abdel-Rahman

Abstract

The BAP1-tumor predisposition syndrome (BAP1-TPDS) has been recently identified to predispose patients to a variety of cancers and preneoplastic lesions. About 130 unrelated probands have been identified worldwide; however, the impact of the syndrome is suspected to be much larger given the diversity of the cancer phenotype. To evaluate the frequency of germline BAP1 mutations in the general and cancer populations, we analyzed the Exome Aggregation Consortium (ExAC), a database that contains 53105 exomes of unrelated individuals unaffected by cancer (general population) and exomes of 7601 unrelated individuals affected by cancer provided by the Cancer Genome Atlas (TCGA, cancer subjects). BAP1 null variants were seen at much higher frequency in the cancer subjects (0.0526%) compared to the general population (0.00188%) with a relative risk of 27.93 and (P = 0.0011, [95% CI: 3.122-249.883], Fisher's exact test). We also studied a reported BAP1 null variant, c.1203T > G, p.T401* (rs200156887), observed commonly in the general population. Sequencing and restriction fragment polymorphism of the RT-4 cell line that contains this variant revealed that it is in fact a 3bp deletion/insertion, c.1201_1203delinsGAG, a likely benign misse...Continue Reading

References

Aug 30, 2011·Nature Genetics·Joseph R TestaMichele Carbone
Aug 30, 2011·Nature Genetics·Thomas WiesnerMichael R Speicher
Sep 24, 2011·Journal of Medical Genetics·Mohamed H Abdel-RahmanFrederick H Davidorf
May 21, 2013·American Journal of Human Genetics·Tatiana PopovaMarc-Henri Stern
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Jan 11, 2016·Familial Cancer·Mohamed H Abdel-RahmanColleen M Cebulla
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium

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Citations

Dec 6, 2018·Journal of the National Cancer Institute·Sebastian WalpoleNicholas K Hayward
Jun 5, 2019·Future Oncology·Vincenzo Di NunnoFrancesco Massari
Dec 15, 2020·American Journal of Ophthalmology·Nakul SinghArun D Singh
Jan 6, 2021·International Journal of Molecular Sciences·Natasha M van PoppelenEmine Kiliҫ

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