Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: APC: 3374T>C; Val1125Ala

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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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: APC: 3374T>C; V1125A; rs377278397

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth.

International Journal Of Molecular Sciences

Panyarat, Chomchanok C; Nakornchai, Siriruk S; Chintakanon, Kanoknart K; Leelaadisorn, Niramol N; Intachai, Worrachet W; Olsen, Bjorn B; Tongsima, Sissades S; Adisornkanj, Ploy P; Ngamphiw, Chumpol C; Cox, Timothy C TC; Kantaputra, Piranit P

Publication Date: 2023-02-21

Variant appearance in text: APC: 3374T>C; Val1125Ala; rs377278397

PubMed Link: 36901686

Variant Present in the following documents:

• Main text
• ijms-24-04255.pdf

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: APC: V1125A

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Frontiers In Oncology

Yang, Po-Sheng PS; Chao, Ying-Ting YT; Lung, Chun-Fan CF; Liu, Chien-Liang CL; Chang, Yuan-Ching YC; Li, Ker-Chau KC; Hsu, Yi-Chiung YC

Publication Date: 2022

Variant appearance in text: APC: V1125A

PubMed Link: 35936696

Variant Present in the following documents:

• Main text
• fonc-12-819555.pdf

View BVdb publication page

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Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Bmc Cancer

Wen, Hao H; Feng, Zheng Z; Ma, Yutong Y; Liu, Rui R; Ou, Qiuxiang Q; Guo, Qinhao Q; Shen, Yi Y; Wu, Xue X; Shao, Yang Y; Bao, Hua H; Wu, Xiaohua X

Publication Date: 2022-05-16

Variant appearance in text: APC: 3374T>C; V1125A

PubMed Link: 35578198

Variant Present in the following documents:

• 12885_2022_9602_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Early dynamics of circulating tumor DNA predict clinical response to immune checkpoint inhibitors in metastatic renal cell carcinoma.

International Journal Of Urology : Official Journal Of The Japanese Urological Association

Koh, Yoko Y; Nakano, Kosuke K; Katayama, Kotoe K; Yamamichi, Gaku G; Yumiba, Satoru S; Tomiyama, Eisuke E; Matsushita, Makoto M; Hayashi, Yujiro Y; Yamamoto, Yoshiyuki Y; Kato, Taigo T; Hatano, Koji K; Kawashima, Atsunari A; Ujike, Takeshi T; Imamura, Ryoichi R; Yamaguchi, Rui R; Imoto, Seiya S; Shiotsu, Yukimasa Y; Nonomura, Norio N; Uemura, Motohide M

Publication Date: 2022-05

Variant appearance in text: APC: 3374T>C; V1125A; rs377278397

PubMed Link: 35184335

Variant Present in the following documents:

• IJU-29-462-s002.xlsx, sheet 1

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: APC: 3374T>C; V1125A

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: APC: 3374T>C; V1125A

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: APC: 3374T>C; V1125A

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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APC Mutations Are Not Confined to Hotspot Regions in Early-Onset Colorectal Cancer.

Cancers

Aitchison, Alan A; Hakkaart, Christopher C; Day, Robert C RC; Morrin, Helen R HR; Frizelle, Frank A FA; Keenan, Jacqueline I JI

Publication Date: 2020-12-18

Variant appearance in text: APC: 3374T>C; V1125A; rs377278397

PubMed Link: 33352971

Variant Present in the following documents:

• Main text
• cancers-12-03829.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: APC: 3374T>C; Val1125Ala; rs377278397

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: APC: V1125A; rs377278397

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 7

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: APC: 3374T>C; V1125A

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative molecular characterization of Chinese prostate cancer specimens.

Asian Journal Of Andrology

Lv, Shi-Dong SD; Wang, Hong-Yi HY; Yu, Xin-Pei XP; Zhai, Qi-Liang QL; Wu, Yao-Bin YB; Wei, Qiang Q; Huang, Wen-Hua WH

Publication Date: 2020

Variant appearance in text: APC: V1125A; rs377278397

PubMed Link: 31134918

Variant Present in the following documents:

• AJA-22-162.pdf
• AJA-22-162_Suppl1.pdf

View BVdb publication page

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Acquired somatic TP53 or PIK3CA mutations are potential predictors of when polyps evolve into colorectal cancer.

Oncotarget

Chang, Pi-Yueh PY; Chen, Jinn-Shiun JS; Chang, Shih-Cheng SC; Wang, Mei-Chia MC; Chang, Nai-Chung NC; Wen, Ying-Hao YH; Tsai, Wen-Sy WS; Liu, Wei-Hsiu WH; Liu, Hsiu-Ling HL; Lu, Jang-Jih JJ

Publication Date: 2017-09-22

Variant appearance in text: APC: V1125A

PubMed Link: 29069792

Variant Present in the following documents:

• Main text
• oncotarget-08-72352.pdf

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: APC: V1125A; rs377278397

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: APC: 3374T>C; Val1125Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: APC: 3374T>C; V1125A

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing.

Oncotarget

Chang, Pi-Yueh PY; Chen, Jinn-Shiun JS; Chang, Nai-Chung NC; Chang, Shih-Cheng SC; Wang, Mei-Chia MC; Tsai, Shu-Hui SH; Wen, Ying-Hao YH; Tsai, Wen-Sy WS; Chan, Err-Cheng EC; Lu, Jang-Jih JJ

Publication Date: 2016-06-21

Variant appearance in text: APC: V1125A

PubMed Link: 27121310

Variant Present in the following documents:

• Main text
• oncotarget-07-37566.pdf

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: APC: 3374T>C; Val1125Ala

PubMed Link: 26976419

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

Bmc Cancer

Chen, Shee-Ping SP; Tsai, Shih-Tzu ST; Jao, Shu-Wen SW; Huang, Yen-Lun YL; Chao, Yu-Chen YC; Chen, Yi-Lin YL; Wu, Chang-Chieh CC; Lin, Shinn-Zong SZ; Harn, Horng-Jyh HJ

Publication Date: 2006-03-29

Variant appearance in text: APC: V1125A

PubMed Link: 16569251

Variant Present in the following documents:

• Main text
• 1471-2407-6-83.pdf

View BVdb publication page

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