Publications:

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: CDH1: -54G>C; rs5030874

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

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Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin.

Nucleic Acids Research

Bacolla, Albino A; Sengupta, Shiladitya S; Ye, Zu Z; Yang, Chunying C; Mitra, Joy J; De-Paula, Ruth B RB; Hegde, Muralidhar L ML; Ahmed, Zamal Z; Mort, Matthew M; Cooper, David N DN; Mitra, Sankar S; Tainer, John A JA

Publication Date: 2021-01-11

Variant appearance in text: rs5030874

PubMed Link: 33300026

Variant Present in the following documents:

• gkaa1120_supplemental_file.pdf

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A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics

Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK

Publication Date: 2016-04-11

Variant appearance in text: CDH1: -54G>C; rs5030874

PubMed Link: 27067391

Variant Present in the following documents:

• Main text
• 12920_2016_178_MOESM9_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM13_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1
• 12920_2016_Article_178.pdf

View BVdb publication page