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Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Greet Wieme (UGent) , Jan Kral, Toon Rosseel (UGent) , Petra Zemankova, Bram Parton (UGent) , Michal Vocka, Mattias Van Heetvelde (UGent) , Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, et al.
(2021) CANCERS. 13(17).
Author
Organization
Abstract
Simple Summary We performed genetic analysis of 53 cancer predisposing genes in Belgian and Czech pancreatic cancer patients. In known pancreatic cancer predisposing genes, a high mutation detection ratio was observed in patients with multiple primary tumors and/or a family history of pancreatic or breast, ovarian or colon cancer or melanoma. BRCA1, BRCA2, and ATM were most frequently affected. Pathogenic variants in cancer predisposition genes for which the association with pancreatic cancer has not been firmly established, were less frequent, except for CHEK2. This observation warrants further analyses in other populations. To accurately determine risk associations our study highlights the importance of using a geographically-matched control population. (1) Background: The proportion and spectrum of germline pathogenic variants (PV) associated with an increased risk for pancreatic ductal adenocarcinoma (PDAC) varies among populations. (2) Methods: We analyzed 72 Belgian and 226 Czech PDAC patients by multigene panel testing. The prevalence of pathogenic variants (PV) in relation to personal/family cancer history were evaluated. PDAC risks were calculated using both gnomAD-NFE and population-matched controls. (3) Results: In 35/298 (11.7%) patients a PV in an established PDAC-predisposition gene was found. BRCA1/2 PV conferred a high risk in both populations, ATM and Lynch genes only in the Belgian subgroup. PV in other known PDAC-predisposition genes were rarer. Interestingly, a high frequency of CHEK2 PV was observed in both patient populations. PV in PDAC-predisposition genes were more frequent in patients with (i) multiple primary cancers (12/38; 32%), (ii) relatives with PDAC (15/56; 27%), (iii) relatives with breast/ovarian/colorectal cancer or melanoma (15/86; 17%) but more rare in sporadic PDAC (5/149; 3.4%). PV in homologous recombination genes were associated with improved overall survival (HR = 0.51; 95% CI 0.34-0.77). (4) Conclusions: Our analysis emphasizes the value of multigene panel testing in PDAC patients, especially in individuals with a positive family cancer history, and underlines the importance of population-matched controls for risk assessment.
Keywords
Cancer Research, Oncology, pancreatic ductal adenocarcinoma, overall survival, multigene panel testing, family history, germline, MUTATION PREVALENCE, BRCA1, RISK, ASSOCIATION, SURVIVAL

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MLA
Wieme, Greet, et al. “Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.” CANCERS, vol. 13, no. 17, 2021, doi:10.3390/cancers13174430.
APA
Wieme, G., Kral, J., Rosseel, T., Zemankova, P., Parton, B., Vocka, M., … Claes, K. (2021). Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients. CANCERS, 13(17). https://doi.org/10.3390/cancers13174430
Chicago author-date
Wieme, Greet, Jan Kral, Toon Rosseel, Petra Zemankova, Bram Parton, Michal Vocka, Mattias Van Heetvelde, et al. 2021. “Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.” CANCERS 13 (17). https://doi.org/10.3390/cancers13174430.
Chicago author-date (all authors)
Wieme, Greet, Jan Kral, Toon Rosseel, Petra Zemankova, Bram Parton, Michal Vocka, Mattias Van Heetvelde, Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, Jenneke van den Ende, Petr Nehasil, Sabine Tejpar, Marianna Borecka, Encarna B. Gómez García, Marinus J. Blok, Marketa Safarikova, Marta Kalousova, Karen Geboes, Robin de Putter, Bruce Poppe, Kim De Leeneer, Zdenek Kleibl, Marketa Janatova, and Kathleen Claes. 2021. “Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.” CANCERS 13 (17). doi:10.3390/cancers13174430.
Vancouver
1.
Wieme G, Kral J, Rosseel T, Zemankova P, Parton B, Vocka M, et al. Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients. CANCERS. 2021;13(17).
IEEE
[1]
G. Wieme et al., “Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients,” CANCERS, vol. 13, no. 17, 2021.
@article{8719704,
  abstract     = {{Simple Summary We performed genetic analysis of 53 cancer predisposing genes in Belgian and Czech pancreatic cancer patients. In known pancreatic cancer predisposing genes, a high mutation detection ratio was observed in patients with multiple primary tumors and/or a family history of pancreatic or breast, ovarian or colon cancer or melanoma. BRCA1, BRCA2, and ATM were most frequently affected. Pathogenic variants in cancer predisposition genes for which the association with pancreatic cancer has not been firmly established, were less frequent, except for CHEK2. This observation warrants further analyses in other populations. To accurately determine risk associations our study highlights the importance of using a geographically-matched control population. (1) Background: The proportion and spectrum of germline pathogenic variants (PV) associated with an increased risk for pancreatic ductal adenocarcinoma (PDAC) varies among populations. (2) Methods: We analyzed 72 Belgian and 226 Czech PDAC patients by multigene panel testing. The prevalence of pathogenic variants (PV) in relation to personal/family cancer history were evaluated. PDAC risks were calculated using both gnomAD-NFE and population-matched controls. (3) Results: In 35/298 (11.7%) patients a PV in an established PDAC-predisposition gene was found. BRCA1/2 PV conferred a high risk in both populations, ATM and Lynch genes only in the Belgian subgroup. PV in other known PDAC-predisposition genes were rarer. Interestingly, a high frequency of CHEK2 PV was observed in both patient populations. PV in PDAC-predisposition genes were more frequent in patients with (i) multiple primary cancers (12/38; 32%), (ii) relatives with PDAC (15/56; 27%), (iii) relatives with breast/ovarian/colorectal cancer or melanoma (15/86; 17%) but more rare in sporadic PDAC (5/149; 3.4%). PV in homologous recombination genes were associated with improved overall survival (HR = 0.51; 95% CI 0.34-0.77). (4) Conclusions: Our analysis emphasizes the value of multigene panel testing in PDAC patients, especially in individuals with a positive family cancer history, and underlines the importance of population-matched controls for risk assessment.}},
  articleno    = {{4430}},
  author       = {{Wieme, Greet and Kral, Jan and Rosseel, Toon and Zemankova, Petra and Parton, Bram and Vocka, Michal and Van Heetvelde, Mattias and Kleiblova, Petra and Blaumeiser, Bettina and Soukupova, Jana and van den Ende, Jenneke and Nehasil, Petr and Tejpar, Sabine and Borecka, Marianna and Gómez García, Encarna B. and Blok, Marinus J. and Safarikova, Marketa and Kalousova, Marta and Geboes, Karen and de Putter, Robin and Poppe, Bruce and De Leeneer, Kim and Kleibl, Zdenek and Janatova, Marketa and Claes, Kathleen}},
  issn         = {{2072-6694}},
  journal      = {{CANCERS}},
  keywords     = {{Cancer Research,Oncology,pancreatic ductal adenocarcinoma,overall survival,multigene panel testing,family history,germline,MUTATION PREVALENCE,BRCA1,RISK,ASSOCIATION,SURVIVAL}},
  language     = {{eng}},
  number       = {{17}},
  pages        = {{15}},
  title        = {{Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients}},
  url          = {{http://dx.doi.org/10.3390/cancers13174430}},
  volume       = {{13}},
  year         = {{2021}},
}
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