Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: APC: P112S; rs1392982680

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology

Li, Peifeng P; Chai, Jia J; Chen, Zi Z; Liu, Yang Y; Wei, Jie J; Liu, Yixiong Y; Zhao, Danhui D; Ma, Jing J; Wang, Kaijing K; Li, Xia X; Shao, Yang Y; Gong, Li L; Zhang, Wei W; Guo, Shuangping S; Yan, Qingguo Q; Li, Mingyang M; Fan, Linni L; Wang, Zhe Z

Publication Date: 2021

Variant appearance in text: APC: P112S

PubMed Link: 33747936

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 2

View BVdb publication page

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A higher ctDNA fraction decreases survival in regorafenib-treated metastatic colorectal cancer patients. Results from the regorafenib's liquid biopsy translational biomarker phase II pilot study.

International Journal Of Cancer

Unseld, Matthias M; Belic, Jelena J; Pierer, Kerstin K; Zhou, Qing Q; Moser, Tina T; Bauer, Raimund R; Piringer, Gudrun G; Gerger, Armin A; Siebenhüner, Alexander A; Speicher, Michael M; Heitzer, Ellen E; Prager, Gerald W GW

Publication Date: 2021-03-15

Variant appearance in text: APC: 334C>T; Pro112Ser

PubMed Link: 32949150

Variant Present in the following documents:

• IJC-148-1452-s003.xlsx, sheet 1

View BVdb publication page

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Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing.

Plos One

Chun, You Jin YJ; Choi, Jae Woo JW; Hong, Min Hee MH; Jung, Dongmin D; Son, Hyeonju H; Cho, Eun Kyung EK; Min, Young Joo YJ; Kim, Sang-We SW; Park, Keunchil K; Lee, Sung Sook SS; Kim, Sangwoo S; Kim, Hye Ryun HR; Cho, Byoung Chul BC; ,

Publication Date: 2019

Variant appearance in text: APC: P112S

PubMed Link: 31765373

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget

Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-11-21

Variant appearance in text: APC: P112S

PubMed Link: 29245953

Variant Present in the following documents:

• oncotarget-08-99966-s003.xlsx, sheet 3

View BVdb publication page

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Novel biomarkers of resistance of pancreatic cancer cells to oncolytic vesicular stomatitis virus.

Oncotarget

Hastie, Eric E; Cataldi, Marcela M; Moerdyk-Schauwecker, Megan J MJ; Felt, Sébastien A SA; Steuerwald, Nury N; Grdzelishvili, Valery Z VZ

Publication Date: 2016-09-20

Variant appearance in text: APC: 334C>T; P112S

PubMed Link: 27533247

Variant Present in the following documents:

• Main text
• oncotarget-07-61601-s006.xlsx, sheet 1
• oncotarget-07-61601.pdf

View BVdb publication page

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NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology

South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM

Publication Date: 2014-10

Variant appearance in text: APC: P112S

PubMed Link: 24662767

Variant Present in the following documents:

• NIHMS57574-supplement-data_tables.xlsx, sheet 2

View BVdb publication page

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