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Functional germline variants as potential co-oncogenes
Univ Penn, Dept Genom & Computat Biol, Perelman Sch Med, Philadelphia, PA 19104 USA.;Univ Penn, Wharton Sch, Dept Stat, Philadelphia, PA 19104 USA..
Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär epidemiologi. Karolinska Inst, Dept Neurobiol Care Sci & Soc, Huddinge, Sweden..
Univ Penn, Dept Genom & Computat Biol, Perelman Sch Med, Philadelphia, PA 19104 USA.;Univ Penn, Wharton Sch, Dept Stat, Philadelphia, PA 19104 USA..
Yale Univ, Yale Sch Med, Breast Med Oncol, Dept Med, New Haven, CT 06520 USA..
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2017 (Engelska)Ingår i: NPJ BREAST CANCER, ISSN 2374-4677, Vol. 3, artikel-id 46Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Germline variants that affect the expression or function of proteins contribute to phenotypic variation in humans and likely determine individual characteristics and susceptibility to diseases including cancer. A number of high penetrance germline variants that increase cancer risk have been identified and studied, but germline functional polymorphisms are not typically considered in the context of cancer biology, where the focus is primarily on somatic mutations. Yet, there is evidence from familial cancers indicating that specific cancer subtypes tend to arise in carriers of high-risk germline variants (e.g., triple negative breast cancers in mutated BRCA carriers), which suggests that pre-existing germline variants may determine which complementary somatic driver mutations are needed to drive tumorigenesis. Recent genome sequencing studies of large breast cancer cohorts reported only a handful of highly recurrent driver mutations, suggesting that different oncogenic events drive individual cancers. Here, we propose that germline polymorphisms can function as oncogenic modifiers, or co-oncogenes, and these determine what complementary subsequent somatic events are required for full malignant transformation. Therefore, we propose that germline aberrations should be considered together with somatic mutations to determine what genes drive cancer and how they may be targeted.

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NATURE PUBLISHING GROUP , 2017. Vol. 3, artikel-id 46
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Cancer och onkologi
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URN: urn:nbn:se:uu:diva-345127DOI: 10.1038/s41523-017-0051-5ISI: 000423610700001PubMedID: 29177190OAI: oai:DiVA.org:uu-345127DiVA, id: diva2:1188761
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BröstcancerfondenWenner-Gren StiftelsernaTillgänglig från: 2018-03-08 Skapad: 2018-03-08 Senast uppdaterad: 2018-03-08Bibliografiskt granskad

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