Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis

Kinnersley, Ben; Kamatani, Yoichiro; Labussière, Marianne; Wang, Yufei; Galán, Pilar; Mokhtari, Karima; Delattre, Jean‐Yves; Gousias, Konstantinos; Schramm, Johannes; Schoemaker, Minouk J.; Swerdlow, Anthony; Fleming, Sarah; Herms, Stefan; Heilmann, Stefanie; Nöthen, Markus M.; Simon, Matthias; Sanson, Marc; Lathrop, Mark; Houlston, Richard S.

doi:10.1038/ejhg.2015.170

Cited by 8 publications

(4 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Indeed, a recent study of 1,662 cases and 1,301 controls failed to replicate 52 variants previously implicated by candidate gene studies (20). In combination with more systematic approaches such as those making use of the exome array (21), these studies do not currently provide support for this class of susceptibility allele playing a major role in glioma predisposition.…”

Section: Introductionmentioning

confidence: 99%

Genome-Wide Association Studies in Glioma

Kinnersley

Houlston

Bondy

2018

Cancer Epidemiology, Biomarkers &Amp; Prevention

Self Cite

View full text Add to dashboard Cite

Since the first reports in 2009, genome-wide association studies (GWAS) have been successful in identifying germline variants associated with glioma susceptibility. In this review, we describe a chronological history of glioma GWAS, culminating in the most recent study comprising 12,496 cases and 18,190 controls. We additionally summarize associations at the 27 glioma-risk SNPs that have been reported so far. Future efforts are likely to be principally focused on assessing association of germline-risk SNPs with particular molecular subgroups of glioma, as well as investigating the functional basis of the risk loci in tumor formation. These ongoing studies will be important to maximize the impact of research into glioma susceptibility, both in terms of insight into tumor etiology as well as opportunities for clinical translation.

show abstract

Section: Introductionmentioning

confidence: 99%

Genome-Wide Association Studies in Glioma

Kinnersley

Houlston

Bondy

2018

Cancer Epidemiology, Biomarkers &Amp; Prevention

Self Cite

View full text Add to dashboard Cite

show abstract

“…It is known to be a mutation causing breast cancer [ 8 , 9 ]. This variant has also been described in association with an increased risk of glioma [ 10 ] and as a mutation causing colorectal adenocarcinoma, odontogenic carcinoma, ovarian cancer, and hematologic malignancies [ 11 , 12 ]. One may ask if this could explain the limited effect of the treatment during the patient’s growth spurt, the early onset of gastric cancer in his mother, as well as the diagnosis of another rare type of benign tumor in this pediatric patient.…”

Section: Discussionmentioning

confidence: 99%

Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report

Papež

Štarha

Pavel

et al. 2021

Genes

View full text Add to dashboard Cite

Spindle cell hemangioma is a benign vascular tumor typically occurring in the dermis or subcutis of distal extremities as red–brown lesions that can grow in both size and number over time. They can be very painful and potentially disabling. A family history of cancer or previous history may be relevant and must be taken into consideration. Juxtaglomerular cell tumor (reninoma) is an extremely rare cause of secondary hypertension diagnosed mostly among adolescents and young adults. Excessive renin secretion results in secondary hyperaldosteronism. Subsequent hypokalemia and metabolic alkalosis, together with high blood pressure, are clues for clinical diagnosis. Histological examination of the excised tumor leads to a definitive diagnosis. Reninoma is found in subcapsular localization, in most cases as a solitary mass, in imaging studies of kidneys. Exceptionally, it can be located in another part of a kidney. Both spindle cell hemangioma and reninoma are extremely rare tumors in children and adolescents. Herein, the authors present a case report of a patient with hereditary BRCA1 interacting protein C-terminal helicase 1 (BRIP1) mutation, spindle cell hemangioma, and secondary hypertension caused by atypically localized reninoma.

show abstract

“…Both variants have been reported in patients with osteopetrosis. (10) The Ala417Thr variant has also been previously reported in association with risk for glioma (11) and also with lower neutrophil count (12) ; however, the Gly579Arg variant has not been reported to be associated with any other diseases. Further molecular analysis and functional data are thus necessary to fully determine the pathogenicity of these variants.…”

Section: Case Reportmentioning

confidence: 96%

Unusual Cortical Phenotype After Hematopoietic Stem Cell Transplantation in a Patient With Osteopetrosis

Afshariyamchlou

Ferdjallah

et al. 2022

JBMR Plus

View full text Add to dashboard Cite

The osteopetroses are a group of rare genetic diseases caused by osteoclast dysfunction or absence. The hallmark of osteopetrosis is generalized increased bone mineral density (BMD). However, the bone is fragile and fractures are common. Autosomal recessive osteopetrosis is usually a severe disorder and often life‐threatening in childhood. We present male siblings with autosomal recessive osteopetrosis due to biallelic variants in TCIRG1 who survived childhood and underwent hematopoietic stem cell transplant (HSCT) in adulthood. One sibling died of posttransplant complications. After transplant, the other sibling had improvement of multiple clinical parameters, including some decline in BMD Z‐scores by dual‐energy X‐ray absorptiometry (DXA) and cessation of fractures. However, spine quantitative computed tomography 11 years after transplant demonstrated an anvil pattern of sclerosis with BMD Z‐score of +18.3. High‐resolution peripheral quantitative computed tomography (HR‐pQCT) of the tibia demonstrated near complete obliteration of the marrow space combined with an unusual cortical phenotype, suggesting extensive cortical porosity at the distal tibia. This case highlights that despite successful transplantation and subsequent improvement in clinical parameters, this patient continued to have significantly elevated bone density and decreased marrow space. Transplant‐associated increased cortical porosity is multifactorial and occurs in two‐thirds of non‐osteopetrotic patients undergoing HSCT. This finding after transplant in osteopetrosis may suggest particular sensitivity of the cortical bone to resorptive activity of transplanted osteoclasts. The case also suggests HR‐pQCT may be a useful modality for imaging and assessing the therapeutic effects on bone in individuals with osteopetrosis. © 2022 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

show abstract

Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis

Cited by 8 publications

References 44 publications

Genome-Wide Association Studies in Glioma

Genome-Wide Association Studies in Glioma

Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report

Unusual Cortical Phenotype After Hematopoietic Stem Cell Transplantation in a Patient With Osteopetrosis

Contact Info

Product

Resources

About