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: 2968G>T; E990*; rs876659036

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: 2968G>T; Glu990Ter

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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The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)

Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q

Publication Date: 2022-10

Variant appearance in text: PALB2: E990*

PubMed Link: 35926241

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: PALB2: E990*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

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: 2968G>T; Glu990Ter

PubMed Link: 35595529

Variant Present in the following documents:

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

View BVdb publication page

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Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Bmc Medicine

Ho, Peh Joo PJ; Ho, Weang Kee WK; Khng, Alexis J AJ; Yeoh, Yen Shing YS; Tan, Benita Kiat-Tee BK; Tan, Ern Yu EY; Lim, Geok Hoon GH; Tan, Su-Ming SM; Tan, Veronique Kiak Mien VKM; Yip, Cheng-Har CH; Mohd-Taib, Nur-Aishah NA; Wong, Fuh Yong FY; Lim, Elaine Hsuen EH; Ngeow, Joanne J; Chay, Wen Yee WY; Leong, Lester Chee Hao LCH; Yong, Wei Sean WS; Seah, Chin Mui CM; Tang, Siau Wei SW; Ng, Celene Wei Qi CWQ; Yan, Zhiyan Z; Lee, Jung Ah JA; Rahmat, Kartini K; Islam, Tania T; Hassan, Tiara T; Tai, Mei-Chee MC; Khor, Chiea Chuen CC; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Sim, Xueling X; Dunning, Alison M AM; Bolla, Manjeet K MK; Antoniou, Antonis C AC; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M

Publication Date: 2022-04-26

Variant appearance in text: PALB2: 2968G>T; Glu990Ter

PubMed Link: 35468796

Variant Present in the following documents:

• 12916_2022_2334_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine

Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M

Publication Date: 2021-12-02

Variant appearance in text: PALB2: 2968G>T; Glu990Ter

PubMed Link: 34857041

Variant Present in the following documents:

• 13073_2021_978_MOESM1_ESM.xlsx, sheet 3

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: 2968G>T; Glu990*

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: 2968G>T; E990X

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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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: 2968G>T; E990X

PubMed Link: 33811135

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107471.pdf

View BVdb publication page

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Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.

Breast Cancer Research And Treatment

Lertwilaiwittaya, Pongtawat P; Roothumnong, Ekkapong E; Nakthong, Panee P; Dungort, Peerawat P; Meesamarnpong, Chutima C; Tansa-Nga, Warisara W; Pongsuktavorn, Khontawan K; Wiboonthanasarn, Supakit S; Tititumjariya, Warunya W; Thongnoppakhun, Wanna W; Chanprasert, Sirisak S; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2021-07

Variant appearance in text: PALB2: 2968G>T; Glu990*

PubMed Link: 33649982

Variant Present in the following documents:

• Main text
• 10549_2021_Article_6152.pdf

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: PALB2: 2968G>T; E990*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers.

Frontiers In Genetics

Hu, Zhe-Yu ZY; Liu, Liping L; Xie, Ning N; Lu, Jun J; Liu, Zhentian Z; Tang, Yu Y; Wang, Yikai Y; Yang, Jianbo J; Ouyang, Quchang Q

Publication Date: 2020

Variant appearance in text: PALB2: 2968G>T

PubMed Link: 33193564

Variant Present in the following documents:

• Main text
• fgene-11-00829.pdf

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: 2968G>T; Glu990Ter

PubMed Link: 32339256

Variant Present in the following documents:

View BVdb publication page

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Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Cancer Medicine

Wang, Jiayu J; Li, Weiwei W; Shi, Yujian Y; Huang, Yan Y; Sun, Tao T; Tang, Lili L; Lu, Qing Q; Lei, Qiumo Q; Liao, Ning N; Jin, Feng F; Li, Hui H; Huang, Tao T; Qian, Jun J; Pang, Danmei D; Wang, Shusen S; Fan, Peizhi P; Wu, Xinhong X; Lin, Ying Y; Qin, Haiyan H; Xu, Binghe B

Publication Date: 2019-05

Variant appearance in text: PALB2: 2968G>T; Glu990Ter

PubMed Link: 30982232

Variant Present in the following documents:

• CAM4-8-2074-s004.xlsx, sheet 1
• CAM4-8-2074-s007.xlsx, sheet 1

View BVdb publication page

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Germline breast cancer susceptibility gene mutations and breast cancer outcomes.

Bmc Cancer

Wang, Yong Alison YA; Jian, Jhih-Wei JW; Hung, Chen-Fang CF; Peng, Hung-Pin HP; Yang, Chi-Fan CF; Cheng, Hung-Chun Skye HS; Yang, An-Suei AS

Publication Date: 2018-03-22

Variant appearance in text: PALB2: 2968G>T; Glu990Ter; rs876659036

PubMed Link: 29566657

Variant Present in the following documents:

• Main text
• 12885_2018_Article_4229.pdf
• 12885_2018_4229_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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