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: PALB2: 2108T>G; L703*; rs752592662

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: 2108T>G; Leu703Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: PALB2: 2108T>G; Leu703Ter; rs752592662

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 2

View BVdb publication page

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: PALB2: 2108T>G; L703*

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.

Cancers

Kwong, Ava A; Shin, Vivian Y VY; Ho, Cecilia Y S CYS; Khalid, Aleena A; Au, Chun Hang CH; Chan, Karen K L KKL; Ngan, Hextan Y S HYS; Chan, Tsun-Leung TL; Ma, Edmond S K ESK

Publication Date: 2021-08-20

Variant appearance in text: PALB2: 2108T>G; Leu703*

PubMed Link: 34439348

Variant Present in the following documents:

• Main text
• cancers-13-04195.pdf

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: 2108T>G; L703X; rs752592662

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: PALB2: L703*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1

View BVdb publication page

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Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.

Cancer

Zhou, Jiaojiao J; Wang, Honglian H; Fu, Fangmeng F; Li, Zhanwen Z; Feng, Qingjian Q; Wu, Weizhu W; Liu, Yun Y; Wang, Chuan C; Chen, Yiding Y

Publication Date: 2020-07-15

Variant appearance in text: PALB2: 2108T>G; Leu703Ter

PubMed Link: 32339256

Variant Present in the following documents:

View BVdb publication page

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Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.

Breast Cancer Research And Treatment

Nguyen-Dumont, Tú T; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Teo, Zhi L ZL; Li, Roger R; Pope, Bernard J BJ; Terry, Mary Beth MB; Buys, Saundra S SS; Daly, Mary M; Hopper, John L JL; Winship, Ingrid I; Goldgar, David E DE; Park, Daniel J DJ; Southey, Melissa C MC

Publication Date: 2015-01

Variant appearance in text: PALB2: 2108T>G; L703*

PubMed Link: 25575445

Variant Present in the following documents:

• Main text

View BVdb publication page

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