Publications:

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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: 2831T>A; Ile944Asn; rs201817103

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.

Journal Of Medical Genetics

Ng, Pei Sze PS; Boonen, Rick Acm RA; Wijaya, Eldarina E; Chong, Chan Eng CE; Sharma, Milan M; Knaup, Sabine S; Mariapun, Shivaani S; Ho, Weang Kee WK; Lim, Joanna J; Yoon, Sook-Yee SY; Mohd Taib, Nur Aishah NA; See, Mee Hoong MH; Li, Jingmei J; Lim, Swee Ho SH; Tan, Ern Yu EY; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Veronique Kiat-Mien VK; van Dam, Rob Martinus RM; Rahmat, Kartini K; Yip, Cheng Har CH; Carvalho, Sara S; Luccarini, Craig C; Baynes, Caroline C; Dunning, Alison M AM; Antoniou, Antonis A; van Attikum, Haico H; Easton, Douglas F DF; Hartman, Mikael M; Teo, Soo Hwang SH

Publication Date: 2022-05

Variant appearance in text: PALB2: I944N

PubMed Link: 33811135

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107471.pdf

View BVdb publication page

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Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Frontiers In Molecular Biosciences

Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H

Publication Date: 2020

Variant appearance in text: PALB2: I944N

PubMed Link: 33195396

Variant Present in the following documents:

• Main text
• fmolb-07-00169.pdf

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Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.

Frontiers In Oncology

Wu, Shijie S; Zhou, Jiaojiao J; Zhang, Kun K; Chen, Huihui H; Luo, Meng M; Lu, Yuexin Y; Sun, Yuting Y; Chen, Yiding Y

Publication Date: 2020

Variant appearance in text: PALB2: 2831T>A

PubMed Link: 32185139

Variant Present in the following documents:

• Main text
• fonc-10-00301.pdf

View BVdb publication page

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Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Nature Communications

Boonen, Rick A C M RACM; Rodrigue, Amélie A; Stoepker, Chantal C; Wiegant, Wouter W WW; Vroling, Bas B; Sharma, Milan M; Rother, Magdalena B MB; Celosse, Nandi N; Vreeswijk, Maaike P G MPG; Couch, Fergus F; Simard, Jacques J; Devilee, Peter P; Masson, Jean-Yves JY; van Attikum, Haico H

Publication Date: 2019-11-22

Variant appearance in text: PALB2: I944N

PubMed Link: 31757951

Variant Present in the following documents:

• Main text
• 41467_2019_13194_MOESM1_ESM.pdf
• 41467_2019_13194_MOESM4_ESM.xlsx, sheet 1
• 41467_2019_Article_13194.pdf
• 41467_2019_13194_MOESM2_ESM.pdf

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Functional characterization of 84 PALB2 variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wiltshire, Timothy T; Ducy, Mandy M; Foo, Tzeh Keong TK; Hu, Chunling C; Lee, Kun Y KY; Belur Nagaraj, Anil A; Rodrigue, Amélie A; Gomes, Thiago T TT; Simard, Jacques J; Monteiro, Alvaro N A ANA; Xia, Bing B; Carvalho, Marcelo A MA; Masson, Jean-Yves JY; Couch, Fergus J FJ

Publication Date: 2020-03

Variant appearance in text: PALB2: 2831T>A; Ile944Asn

PubMed Link: 31636395

Variant Present in the following documents:

• Main text
• 41436_2019_Article_682.pdf

View BVdb publication page

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Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: PALB2: 2831T>A; I944N; rs201817103

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

View BVdb publication page

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