Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PALB2: 1039G>T; Glu347Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: PALB2: 1039G>T; Glu347*; rs1060499812

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: PALB2: 1039G>T; E347X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study.

Nature Medicine

Staaf, Johan J; Glodzik, Dominik D; Bosch, Ana A; Vallon-Christersson, Johan J; Reuterswärd, Christel C; Häkkinen, Jari J; Degasperi, Andrea A; Amarante, Tauanne Dias TD; Saal, Lao H LH; Hegardt, Cecilia C; Stobart, Hilary H; Ehinger, Anna A; Larsson, Christer C; Rydén, Lisa L; Loman, Niklas N; Malmberg, Martin M; Kvist, Anders A; Ehrencrona, Hans H; Davies, Helen R HR; Borg, Åke Å; Nik-Zainal, Serena S

Publication Date: 2019-10

Variant appearance in text: PALB2: 1039G>T

PubMed Link: 31570822

Variant Present in the following documents:

• Main text
• EMS84088.pdf

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Targeted Next-Generation Sequencing Identifies Actionable Targets in Estrogen Receptor Positive and Estrogen Receptor Negative Endometriod Endometrial Cancer.

Frontiers In Pharmacology

Suhaimi, Siti Syazani SS; Ab Mutalib, Nurul-Syakima NS; Khor, Sheau S SS; Zain, Reena Rahayu Md RRM; Syafruddin, Saiful Effendi SE; Abu, Nadiah N; Mohd Dali, Ahmad Zailani Hatta AZH; Jamal, Rahman R

Publication Date: 2018

Variant appearance in text: PALB2: E347*

PubMed Link: 30057548

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 6

View BVdb publication page