Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes

2018 ◽  
Vol 57 (11) ◽  
pp. 573-583 ◽  
Author(s):  
Marta Betti ◽  
Anna Aspesi ◽  
Daniela Ferrante ◽  
Marika Sculco ◽  
Luisella Righi ◽  
...  
Keyword(s):  
Dna Repair ◽  
Dna Repair Genes ◽  
Germline Variants ◽  
Repair Genes

scholarly journals Unraveling the genetic architecture of hepatoblastoma risk: birth defects and increased burden of germline damaging variants in gastrointestinal/renal cancer predisposition and DNA repair genes

2021 ◽  
Author(s):  
Talita Aguiar* ◽  
Anne Caroline Teixeira ◽  
Marília Scliar ◽  
Juliana Sobral ◽  
Renan B. Lemes ◽  
...  
Keyword(s):  
Dna Repair ◽  
Renal Cancer ◽  
Birth Defects ◽  
Genetic Architecture ◽  
Rare Variants ◽  
Cancer Predisposition ◽  
Dna Repair Genes ◽  
Remarkable Feature ◽  
Germline Variants ◽  
Repair Genes

The ultrarare hepatoblastoma is the most common pediatric liver cancer. HB risk is related to a few rare syndromes, and the molecular bases remain elusive for most cases. We investigated the burden of rare damaging germline variants in 30 Brazilian patients with HB. A high frequency of prematurity (20%) and birth defects (37%), especially craniofacial (17%, including craniosynostosis) and kidney (7%) anomalies, was observed. Pathogenic or likely pathogenic variants mapped to 10 cancer predisposition genes (APC, CHEK2, DROSHA, ERCC5, FAH, MSH2, MUTYH, RPS19, TGFBR2 and VHL,) were detected in 33% of the patients, only 40% of them with a family history of cancer. These findings showed a predominance of CPGs with a known link to gastrointestinal/colorectal and renal cancer risk. A remarkable feature was an enrichment of rare damaging variants affecting different classes of DNA repair genes, particularly those known as Fanconi anemia genes. Moreover, several damaging rare variants mapped to genes impacting liver functions were observed. To our knowledge, this is the first comprehensive assessment of rare germline variants in HB patients, contributing to elucidating the genetic architecture of HB risk.

scholarly journals Germline Variants in DNA Repair Genes, Diagnostic Radiation, and Risk of Thyroid Cancer

2017 ◽  
Vol 27 (3) ◽  
pp. 285-294 ◽  
Author(s):  
Jason E. Sandler ◽  
Huang Huang ◽  
Nan Zhao ◽  
Weiwei Wu ◽  
Fangfang Liu ◽  
...  
Keyword(s):  
Dna Repair ◽  
Thyroid Cancer ◽  
Dna Repair Genes ◽  
Germline Variants ◽  
Diagnostic Radiation ◽  
Repair Genes

scholarly journals Correction: Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease

2019 ◽  
Vol 120 (8) ◽  
pp. 867-867
Author(s):  
Martina Mijuskovic ◽  
Edward J. Saunders ◽  
Daniel A. Leongamornlert ◽  
Sarah Wakerell ◽  
Ian Whitmore ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Dna Repair ◽  
Cancer Patients ◽  
Metastatic Disease ◽  
Dna Repair Genes ◽  
Germline Variants ◽  
Repair Genes ◽  
Angiogenesis Pathway

scholarly journals Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer

Genes ◽  
2020 ◽  
Vol 11 (3) ◽  
pp. 314 ◽  
Author(s):  
Tommi Rantapero ◽  
Tiina Wahlfors ◽  
Anna Kähler ◽  
Christina Hultman ◽  
Johan Lindberg ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Dna Repair ◽  
Dna Repair Genes ◽  
Carrier Rate ◽  
Single Nucleotide Variants ◽  
Repair Gene ◽  
Germline Variants ◽  
Dna Repair Gene ◽  
Significant Difference ◽  
Repair Genes

Germline variants in DNA repair genes are associated with aggressive prostate cancer (PrCa). The aim of this study was to characterize germline variants in DNA repair genes associated with lethal PrCa in Finnish and Swedish populations. Whole-exome sequencing was performed for 122 lethal and 60 unselected PrCa cases. Among the lethal cases, a total of 16 potentially damaging protein-truncating variants in DNA repair genes were identified in 15 men (12.3%). Mutations were found in six genes with CHEK2 (4.1%) and ATM (3.3%) being most frequently mutated. Overall, the carrier rate of truncating variants in DNA repair genes among men with lethal PrCa significantly exceeded the carrier rate of 0% in 60 unselected PrCa cases (p = 0.030), and the prevalence of 1.6% (p < 0.001) and 5.4% (p = 0.040) in Swedish and Finnish population controls from the Exome Aggregation Consortium. No significant difference in carrier rate of potentially damaging nonsynonymous single nucleotide variants between lethal and unselected PrCa cases was observed (p = 0.123). We confirm that DNA repair genes are strongly associated with lethal PrCa in Sweden and Finland and highlight the importance of population-specific assessment of variants contributing to PrCa aggressiveness.

scholarly journals Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Simone da Costa e Silva Carvalho ◽  
Nathalia Moreno Cury ◽  
Danielle Barbosa Brotto ◽  
Luiza Ferreira de Araujo ◽  
Reginaldo Cruz Alves Rosa ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Dna Repair ◽  
Gene Panel ◽  
Brazilian Population ◽  
Dna Repair Genes ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Germline Variants ◽  
Repair Genes ◽  
Syndrome Analysis

Germline variants of DNA repair genes in early onset mantle cell lymphoma

Oncogene ◽  
2020 ◽  
Author(s):  
Xiaogan Wang ◽  
Yuqin Song ◽  
Wei Chen ◽  
Ning Ding ◽  
Weiping Liu ◽  
...  
Keyword(s):  
Dna Repair ◽  
Mantle Cell Lymphoma ◽  
Early Onset ◽  
Cell Lymphoma ◽  
Dna Repair Genes ◽  
Germline Variants ◽  
Mantle Cell ◽  
Repair Genes

scholarly journals Germline variants in DNA repair genes are associated with young-onset head and neck cancer

Oral Oncology ◽  
2021 ◽  
Vol 122 ◽  
pp. 105545
Author(s):  
Sarah Santiloni Cury ◽  
Priscila Mayrink de Miranda ◽  
Fabio Albuquerque Marchi ◽  
Luisa Matos do Canto ◽  
Thiago Celestino Chulam ◽  
...  
Keyword(s):  
Dna Repair ◽  
Head And Neck Cancer ◽  
Head And Neck ◽  
Neck Cancer ◽  
Dna Repair Genes ◽  
Germline Variants ◽  
Young Onset ◽  
Repair Genes

scholarly journals Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment

2022 ◽  
Vol 163 ◽  
pp. 44-54
Author(s):  
Marika Sculco ◽  
Marta La Vecchia ◽  
Anna Aspesi ◽  
Giulia Pinton ◽  
Michela G. Clavenna ◽  
...  
Keyword(s):  
Dna Repair ◽  
Malignant Pleural Mesothelioma ◽  
Pleural Mesothelioma ◽  
Dna Repair Genes ◽  
Germline Variants ◽  
Tailored Treatment ◽  
Repair Genes

scholarly journals Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease

2018 ◽  
Vol 119 (1) ◽  
pp. 96-104 ◽  
Author(s):  
Martina Mijuskovic ◽  
Edward J. Saunders ◽  
Daniel A. Leongamornlert ◽  
Sarah Wakerell ◽  
Ian Whitmore ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Dna Repair ◽  
Cancer Patients ◽  
Metastatic Disease ◽  
Dna Repair Genes ◽  
Germline Variants ◽  
Repair Genes ◽  
Angiogenesis Pathway

scholarly journals The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

BMC Cancer ◽  
2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Joanna Trubicka ◽  
Tomasz Żemojtel ◽  
Jochen Hecht ◽  
Katarzyna Falana ◽  
Dorota Piekutowska- Abramczuk ◽  
...  
Keyword(s):  
Dna Repair ◽  
Therapeutic Strategies ◽  
Dna Repair Genes ◽  
Germline Variants ◽  
Pediatric Medulloblastoma ◽  
Repair Genes
Sign in / Sign up

Export Citation Format

Share Document