The CHEK2 Variant C.349AG Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor
It is well-recognised the strong contribution of genetic factors to prostate cancer (PrCa) susceptibility, thus genetic screening is critical for presymptomatic diagnosis and identification of individuals at high-risk. In this context, recurrent founder variants in cancer predisposing genes, by prov...
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| creator | Brandao, Andreia Paulo, Paula Maia, Sofia Pinheiro, Manuela Peixoto, Ana Cardoso, Marta Silva, Maria P Santos, Catarina Eeles, Rosalind A Kote-Jarai, Zsofia Muir, Kenneth Schleutker, Johanna Wang, Ying Pashayan, Nora Batra, Jyotsna Gronberg, Henrik Neal, David E Nordestgaard, Borge G Tangen, Catherine M Southey, Melissa C Wolk, Alicja Albanes, Demetrius Haiman, Christopher A Travis, Ruth C Stanford, Janet L Mucci, Lorelei A West, Catharine M.L Nielsen, Sune F Kibel, Adam S Cussenot, Olivier Berndt, Sonja I Koutros, Stella Sorensen, Karina Dalsgaard Cybulski, Cezary Grindedal, Eli Marie Park, Jong Y Ingles, Sue A Maier, Christiane Hamilton, Robert J Rosenstein, Barry S Vega, Ana Kogevinas, Manolis Wiklund, Fredrik Penney, Kathryn L Brenner, Hermann John, Esther M Kaneva, Radka Logothetis, Christopher J Neuhausen, Susan L de Ruyck, Kim Razack, Azad Newcomb, Lisa F Lessel, Davor Usmani, Nawaid Claessens, Frank Gago-Dominguez, Manuela Townsend, Paul A Roobol, Monique J Teixeira, Manuel R |
| description | It is well-recognised the strong contribution of genetic factors to prostate cancer (PrCa) susceptibility, thus genetic screening is critical for presymptomatic diagnosis and identification of individuals at high-risk. In this context, recurrent founder variants in cancer predisposing genes, by providing specific targets for early identification of carriers at risk of developing the disease, may be leveraged to implement cost-efficient targeted genetic screening strategies. The goal of this study was to investigate whether CHEK2 c.349A>G, the only recurrent "likely pathogenic" variant in CHEK2 gene reported in the Portuguese population, plays an important role in PrCa development, and the possibility of a founder effect behind its origin. Our results clearly demonstrate that c.349A>G in the CHEK2 tumour-suppressor gene is a founder variant significantly associated with an increased risk of PrCa, suggesting its potential usefulness for cost-effective targeted genetic screening in PrCa families. |
| doi_str_mv | 10.3390/cancers12113254 |
| format | Article |
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In this context, recurrent founder variants in cancer predisposing genes, by providing specific targets for early identification of carriers at risk of developing the disease, may be leveraged to implement cost-efficient targeted genetic screening strategies. The goal of this study was to investigate whether CHEK2 c.349A>G, the only recurrent "likely pathogenic" variant in CHEK2 gene reported in the Portuguese population, plays an important role in PrCa development, and the possibility of a founder effect behind its origin. 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In this context, recurrent founder variants in cancer predisposing genes, by providing specific targets for early identification of carriers at risk of developing the disease, may be leveraged to implement cost-efficient targeted genetic screening strategies. The goal of this study was to investigate whether CHEK2 c.349A>G, the only recurrent "likely pathogenic" variant in CHEK2 gene reported in the Portuguese population, plays an important role in PrCa development, and the possibility of a founder effect behind its origin. 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In this context, recurrent founder variants in cancer predisposing genes, by providing specific targets for early identification of carriers at risk of developing the disease, may be leveraged to implement cost-efficient targeted genetic screening strategies. The goal of this study was to investigate whether CHEK2 c.349A>G, the only recurrent "likely pathogenic" variant in CHEK2 gene reported in the Portuguese population, plays an important role in PrCa development, and the possibility of a founder effect behind its origin. Our results clearly demonstrate that c.349A>G in the CHEK2 tumour-suppressor gene is a founder variant significantly associated with an increased risk of PrCa, suggesting its potential usefulness for cost-effective targeted genetic screening in PrCa families.</abstract><pub>MDPI AG</pub><doi>10.3390/cancers12113254</doi><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
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| ispartof | Cancers, 2020-11, Vol.12 (11), p.1 |
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| source | PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; PubMed Central; EZB Electronic Journals Library |
| subjects | Genetic aspects Genetic variation Health aspects Prostate cancer Risk factors |
| title | The CHEK2 Variant C.349AG Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor |
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