Whole exome sequencing analysis of ABCC8 and ABCD2 genes associating with clinical course of breast carcinoma

Title:

Whole exome sequencing analysis of ABCC8 and ABCD2 genes associating with clinical course of breast carcinoma

Creator:

Soucek, P., Hlavac, V., Elsnerova, K., Radka Václavíková, Kozevnikovova, R., and Raus, K.

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:024fb748-abab-4c8c-b967-f9089a43471c
uuid:024fb748-abab-4c8c-b967-f9089a43471c
issn:0862-8408

Subject:

Fyziologie člověka a srovnávací fyziologie, rakovina prsu, maligní nádorová onemocnění, sekvenování nové generace, terapie, breast cancer, cancer, pain therapy, next generation sequencing, ABC transporter, 14, and 612

Type:

article, články, model:article, and TEXT

Format:

print, bez média, and svazek

Description:

The aim of the present study was to introduce methods for exome sequencing of two ATP-binding cassette (ABC) transporters ABCC8 and ABCD2 recently suggested to play a putative role in breast cancer progression and prognosis of patients. We performed next generation sequencing targeted at analysis of all exons in ABCC8 and ABCD2 genes and surrounding noncoding sequences in blood DNA samples from 24 patients with breast cancer. The revealed alterations were characterized by in silico tools. We then compared the most frequent functionally relevant polymorphism rs757110 in ABCC8 with clinical data of patients. In total, the study identified 113 genetic alterations (>70 % novel ones) in both genes. Of these alterations, 83 were noncoding, 13 synonymous, 10 frameshifts and 7 were missense alterations. Four in silico programs predicted pathogenicity of two polymorphisms and four newly identified alterations. Rs757110 polymorphism in ABCC8 did not significantly associate with clinical data of the patients. In conclusion, exome sequencing identified several functionally relevant alterations in ABCC8 and ABCD2 genes that may further be used for a larger follow-up study aiming to assess their clinical significance., P. Soucek, V. Hlavac, K. Elsnerova, R. Vaclavikova, R. Kozevnikovova, K. Raus., and Obsahuje bibliografii

Language:

English

Rights:

http://creativecommons.org/publicdomain/mark/1.0/
policy:public

Source:

Physiological research | 2015 Volume:64 | Number:Suppl 4

Harvested from:

CDK

Metadata only:

false