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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

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: MSH2: 2228C>G; Ser743Ter

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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Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial Cancer

Aziz, Shahram S; O'Sullivan, Hazel H; Heelan, Kara K; Alam, Afrina A; McVeigh, Terri P TP

Publication Date: 2022-11-23

Variant appearance in text: MSH2: 2228C>G; Ser743Ter

PubMed Link: 36418753

Variant Present in the following documents:

• 10689_2022_319_MOESM2_ESM.xlsx, sheet 1

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Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Cancer Biology & Medicine

Li, Yan Y; Fan, Lihong L; Zheng, Jianming J; Nie, Xiu X; Sun, Yu Y; Feng, Qin Q; Lian, Shenyi S; Bai, Wenqi W; Cai, Weijing W; Yang, Yanan Y; Su, Bo B; Xi, Yanfeng Y; Lin, Dongmei D

Publication Date: 2022-06-01

Variant appearance in text: MSH2: 2228C>G; Ser743Ter

PubMed Link: 35638907

Variant Present in the following documents:

• cbm-19-1235-s001.pdf

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Mutational landscape of circulating tumor DNA identifies distinct molecular features associated with therapeutic response in patients with metastatic colorectal cancer.

Therapeutic Advances In Medical Oncology

Shi, Min M; Yuan, Hong H; Ji, Jun J; Zhang, Shouwei S; Li, Qingyuan Q; Chen, Yawei Y; Gong, Xiaoli X; Zhu, Zhenggang Z; Zhang, Jun J

Publication Date: 2022

Variant appearance in text: rs63751155

PubMed Link: 35096147

Variant Present in the following documents:

• sj-xls-4-tam-10.1177_17588359211070643.xls, sheet 1

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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: MSH2: 2228C>G; Ser743Terfs; rs63751155

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: rs63751155

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 2

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The contribution of Lynch syndrome to early onset malignancy in Ireland.

Bmc Cancer

Talbot, Alice A; O'Donovan, Emily E; Berkley, Eileen E; Nolan, Carmel C; Clarke, Roisin R; Gallagher, David D

Publication Date: 2021-05-26

Variant appearance in text: MSH2: S743X

PubMed Link: 34039291

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8263.pdf

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Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.

Journal Of Oncology

Ellis, H P HP; McInerney, C E CE; Schrimpf, D D; Sahm, F F; Stupnikov, A A; Wadsley, M M; Wragg, C C; White, P P; Prise, K M KM; McArt, D G DG; Kurian, K M KM

Publication Date: 2019

Variant appearance in text: rs63751155

PubMed Link: 32082376

Variant Present in the following documents:

• Main text
• JO2019-4878547.pdf

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