Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: N/A

PubMed Link: 36922933

Variant Present in the following documents:

View BVdb publication page

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Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.

Cancers

Valenzuela-Palomo, Alberto A; Sanoguera-Miralles, Lara L; Bueno-Martínez, Elena E; Esteban-Sánchez, Ada A; Llinares-Burguet, Inés I; García-Álvarez, Alicia A; Pérez-Segura, Pedro P; Gómez-Barrero, Susana S; de la Hoya, Miguel M; Velasco-Sampedro, Eladio A EA

Publication Date: 2022-09-19

Variant appearance in text: PALB2: 109C>T

PubMed Link: 36139699

Variant Present in the following documents:

• Main text
• cancers-14-04541.pdf

View BVdb publication page

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Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology

Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,

Publication Date: 2022-09-17

Variant appearance in text: PALB2: 109C>T; Arg37Cys; rs200048921

PubMed Link: 36124685

Variant Present in the following documents:

• noac220_suppl_supplementary_table_s3.xlsx, sheet 1

View BVdb publication page

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: rs200048921

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 2

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs200048921

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs200048921

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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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: 109C>T; Arg37Cys; rs200048921

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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Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference.

Bioinformation

Nawar, Noshin N; Paul, Anik A; Mahmood, Hamida Nooreen HN; Faisal, Md Ismail MI; Hosen, Md Ismail MI; Shekhar, Hossain Uddin HU

Publication Date: 2021

Variant appearance in text: rs200048921

PubMed Link: 34092963

Variant Present in the following documents:

• 97320630017424.pdf

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: 109C>T; R37C

PubMed Link: 33811135

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107471.pdf

View BVdb publication page

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Pan-cancer Analysis of Tumor Mutational Burden and Homologous Recombination DNA Damage Repair Using Targeted Next-Generation Sequencing.

Cancer Research And Treatment

Wang, Hai-Yun HY; Deng, Ling L; Li, Ying-Qing YQ; Zhang, Xiao X; Long, Ya-Kang YK; Zhang, Xu X; Feng, Yan-Fen YF; He, Yuan Y; Tang, Tao T; Yang, Xin-Hua XH; Wang, Fang F

Publication Date: 2021-10

Variant appearance in text: PALB2: R37C

PubMed Link: 33677848

Variant Present in the following documents:

• crt-2020-798_S12_Table.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: 109C>T; R37C

PubMed Link: 33195396

Variant Present in the following documents:

• fmolb-07-00169.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: 109C>T; Arg37Cys

PubMed Link: 31636395

Variant Present in the following documents:

• Main text
• 41436_2019_Article_682.pdf

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: PALB2: 109C>T; Arg37Cys; rs200048921

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE

Publication Date: 2016-05-01

Variant appearance in text: PALB2: 109C>T; Arg37Cys

PubMed Link: 26976419

Variant Present in the following documents:

• Main text

View BVdb publication page

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