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Duplex sequencing of selected breast cancer patients

This study assessed the variant profiles of 22 samples from 11 breast cancer patients with adverse survival outcomes, including paired uninvolved mammary gland samples collected at various distances from primary lesions. Ultra-deep sequencing was performed to identify the presence of low-frequency pathogenic post-zygotic variants in PIK3CA and TP53 genes.

Type: Resequencing
Archive: European Genome-phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000769	Investigation of post-zygotic and germline variants using whole exome and ultra-deep duplex sequencing in paired uninvolved margin and primaty tumor samples from 126 breast cancer patients with differing survival outcomes, with skin or blood samples as reference. Pairs of uninvolved margin and blood samples were also collected for 15 reduction mammoplasty patients without personal or familial history of cancer, serving as controls.	HiSeq X Ten	22

Publications	Citations
Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants. Andreou M, Chojnowska K, Filipowicz N, Horbacz M, Madanecki P, Duzowska K, Ławrynowicz U, Davies H, Bruhn-Olszewska B, Koszyński M, Drężek-Chyła K, Jaśkiewicz M, Jąkalski M, Kostecka A, Drzewiecka-Kłysz M, Nowikiewicz M, Las-Jankowska M, Bała D, Hoffman J, Śrutek E, Jankowski M, Jankau J, Hodorowicz-Zaniewska D, Szpor J, Szylberg Ł, Zegarski W, Nowikiewicz T, Buckley PG, Tiemann-Boege I, Mieczkowski J, Koczkowska M, Dumanski JP, Piotrowski A. BMC Cancer 26: 2026 753	0

Publications

Citations

Beyond tumors: uninvolved breast tissue of breast cancer patients with adverse prognoses is enriched for pathogenic PIK3CA and TP53 post-zygotic variants.
Andreou M, Chojnowska K, Filipowicz N, Horbacz M, Madanecki P, Duzowska K, Ławrynowicz U, Davies H, Bruhn-Olszewska B, Koszyński M, Drężek-Chyła K, Jaśkiewicz M, Jąkalski M, Kostecka A, Drzewiecka-Kłysz M, Nowikiewicz M, Las-Jankowska M, Bała D, Hoffman J, Śrutek E, Jankowski M, Jankau J, Hodorowicz-Zaniewska D, Szpor J, Szylberg Ł, Zegarski W, Nowikiewicz T, Buckley PG, Tiemann-Boege I, Mieczkowski J, Koczkowska M, Dumanski JP, Piotrowski A. BMC Cancer 26: 2026 753