Publications:

---

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

---

Rare coding variants in DNA damage repair genes associated with timing of natural menopause.

Hgg Advances

Ward, Lucas D LD; Parker, Margaret M MM; Deaton, Aimee M AM; Tu, Ho-Chou HC; Flynn-Carroll, Alexander O AO; Hinkle, Gregory G; Nioi, Paul P

Publication Date: 2022-04-14

Variant appearance in text: rs142763740

PubMed Link: 35493704

Variant Present in the following documents:

• mmc2.xlsx, sheet 7

View BVdb publication page

---

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Human Molecular Genetics

Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER

Publication Date: 2022-08-25

Variant appearance in text: rs142763740

PubMed Link: 35441217

Variant Present in the following documents:

• hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx, sheet 2

View BVdb publication page

---

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: CHEK2: 1427C>A; Thr476Lys

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

STAT3 and TP53 mutations associate with poor prognosis in anaplastic large cell lymphoma.

Leukemia

Lobello, Cosimo C; Tichy, Boris B; Bystry, Vojtech V; Radova, Lenka L; Filip, Daniel D; Mraz, Marek M; Montes-Mojarro, Ivonne-Aidee IA; Prokoph, Nina N; Larose, Hugo H; Liang, Huan-Chang HC; Sharma, Geeta G GG; Mologni, Luca L; Belada, David D; Kamaradova, Katerina K; Fend, Falko F; Gambacorti-Passerini, Carlo C; Merkel, Olaf O; Turner, Suzanne D SD; Janikova, Andrea A; Pospisilova, Sarka S

Publication Date: 2021-05

Variant appearance in text: rs142763740

PubMed Link: 33247178

Variant Present in the following documents:

• 41375_2020_1093_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

The genomic and epigenomic evolutionary history of papillary renal cell carcinomas.

Nature Communications

Zhu, Bin B; Poeta, Maria Luana ML; Costantini, Manuela M; Zhang, Tongwu T; Shi, Jianxin J; Sentinelli, Steno S; Zhao, Wei W; Pompeo, Vincenzo V; Cardelli, Maurizio M; Alexandrov, Boian S BS; Otlu, Burcak B; Hua, Xing X; Jones, Kristine K; Brodie, Seth S; Dabrowska, Malgorzata Ewa ME; Toro, Jorge R JR; Yeager, Meredith M; Wang, Mingyi M; Hicks, Belynda B; Alexandrov, Ludmil B LB; Brown, Kevin M KM; Wedge, David C DC; Chanock, Stephen S; Fazio, Vito Michele VM; Gallucci, Michele M; Landi, Maria Teresa MT

Publication Date: 2020-06-18

Variant appearance in text: rs142763740

PubMed Link: 32555180

Variant Present in the following documents:

• 41467_2020_16546_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

---

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: CHEK2: 1427C>A; Thr476Lys; rs142763740

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: CHEK2: T476K

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

---

Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

Human Molecular Genetics

Roeb, Wendy W; Higgins, Jake J; King, Mary-Claire MC

Publication Date: 2012-06-15

Variant appearance in text: CHEK2: 1427C>A; T476K

PubMed Link: 22419737

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutations in CHEK2 associated with prostate cancer risk.

American Journal Of Human Genetics

Dong, Xiangyang X; Wang, Liang L; Taniguchi, Ken K; Wang, Xianshu X; Cunningham, Julie M JM; McDonnell, Shannon K SK; Qian, Chiping C; Marks, Angela F AF; Slager, Susan L SL; Peterson, Brett J BJ; Smith, David I DI; Cheville, John C JC; Blute, Michael L ML; Jacobsen, Steve J SJ; Schaid, Daniel J DJ; Tindall, Donald J DJ; Thibodeau, Stephen N SN; Liu, Wanguo W

Publication Date: 2003-02

Variant appearance in text: CHK2: Thr476Lys

PubMed Link: 12533788

Variant Present in the following documents:

• Main text

View BVdb publication page

---