Functional germline variants in driver genes of breast cancer

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MARC

Göhler, StellaGerman Cancer Research Centre (author)

Functional germline variants in driver genes of breast cancer

Article/chapterEnglish2017

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2017-02-25
Dordrecht :Springer Science and Business Media LLC,2017

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LIBRIS-ID:oai:lup.lub.lu.se:196b1da1-ab49-4c82-9de0-aca4138cf71a
https://lup.lub.lu.se/record/196b1da1-ab49-4c82-9de0-aca4138cf71aURI
https://doi.org/10.1007/s10552-017-0849-3DOI
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-134217URI

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Language:English
Summary in:English

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Purpose: Germline mutations in tumour suppressor genes cause various cancers. These genes are also somatically mutated in sporadic tumours. We hypothesized that there may also be cancer-related germline variants in the genes commonly mutated in sporadic breast tumours. Methods: After excluding the well-characterized breast cancer (BC) genes, we screened 15 novel genes consistently classified as BC driver genes in next-generation sequencing approaches for single nucleotide polymorphisms (SNPs). Altogether 40 SNPs located in the core promoter, 5′- and 3′-UTR or which were nonsynonymous SNPs were genotyped in 782 Swedish incident BC cases and 1,559 matched controls. After statistical analyses, further evaluations related to functional prediction and signatures of selection were performed. Results: TBX3 was associated with BC risk (rs2242442: OR = 0.76, 95% CI 0.64–0.92, dominant model) and with less aggressive tumour characteristics. An association with BC survival and aggressive tumour characteristics was detected for the genes ATR (rs2227928: HR = 1.63; 95% CI 1.00–2.64, dominant model), RUNX1 (rs17227210: HR = 3.50, 95% CI 1.42–8.61, recessive model) and TTN (rs2303838: HR = 2.36; 95% CI 1.04–5.39; rs2042996: HR = 2.28; 95% CI 1.19–4.37, recessive model). According to the experimental ENCODE data all these SNPs themselves or SNPs in high linkage disequilibrium with them (r2 ≥ 0.80) were located in regulatory regions. RUNX1 and TTN showed also several signatures of positive selection. Conclusion: The study gave evidence that germline variants in BC driver genes may have impact on BC risk and/or survival. Future studies could discover further germline variants in known or so far unknown driver genes which contribute to cancer development.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Cancer och onkologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Cancer and Oncology hsv//eng
MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
Breast cancer
Case–control study
Driver genes
Germline variants
Single nucleotide polymorphism
Breast cancer

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da Silva Filho, Miguel InacioGerman Cancer Research Centre(Swepub:lu)med-md_ (author)
Johansson, RobertUmeå universitet,Umeå University,Onkologi(Swepub:umu)rojo0001 (author)
Enquist-Olsson, KerstinUmeå universitet,Umeå University,Näringsforskning (author)
Henriksson, RogerUmeå universitet,Umeå University,Onkologi,Cancer Center Stockholm Gotland, 10239 Stockholm, Sweden(Swepub:umu)rohe0003 (author)
Hemminki, KariLund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre(Swepub:lu)med-khk (author)
Lenner, PerUmeå universitet,Umeå University,Onkologi(Swepub:umu)pele0005 (author)
Försti, AstaLund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre(Swepub:lu)med-asf (author)
Umeå UniversityGerman Cancer Research Centre (creator_code:org_t)

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In:Cancer Causes and ControlDordrecht : Springer Science and Business Media LLC28:4, s. 259-2710957-52431573-7225

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