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: MSH2: 1552C>T; Q518*; rs63750780

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: MSH2: 1552C>T; Gln518Ter

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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A Rare MSH2 Variant as a Candidate Marker for Lynch Syndrome II Screening in Tunisia: A Case of Diffuse Gastric Carcinoma.

Genes

Kabbage, Maria M; Ben Aissa-Haj, Jihenne J; Othman, Houcemeddine H; Jaballah-Gabteni, Amira A; Laarayedh, Sarra S; Elouej, Sahar S; Medhioub, Mouna M; Kettiti, Haifa Tounsi HT; Khsiba, Amal A; Mahmoudi, Moufida M; BelFekih, Houda H; Maaloul, Afifa A; Touinsi, Hassen H; Hamzaoui, Lamine L; Chelbi, Emna E; Abdelhak, Sonia S; Boubaker, Mohamed Samir MS; Azzouz, Mohamed Mousaddak MM

Publication Date: 2022-07-28

Variant appearance in text: MSH2: 1552C>T; Q518X

PubMed Link: 36011265

Variant Present in the following documents:

• Main text
• genes-13-01355.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: MSH2: 1552C>T; Q518X; rs63750780

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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Deep single-cell RNA sequencing data of individual T cells from treatment-naïve colorectal cancer patients.

Scientific Data

Zhang, Yuanyuan Y; Zheng, Liangtao L; Zhang, Lei L; Hu, Xueda X; Ren, Xianwen X; Zhang, Zemin Z

Publication Date: 2019-07-24

Variant appearance in text: MSH2: Q518X

PubMed Link: 31341169

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.

Journal Of Translational Medicine

Jaballah-Gabteni, Amira A; Tounsi, Haifa H; Kabbage, Maria M; Hamdi, Yosr Y; Elouej, Sahar S; Ben Ayed, Ines I; Medhioub, Mouna M; Mahmoudi, Moufida M; Dallali, Hamza H; Yaiche, Hamza H; Ben Jemii, Nadia N; Maaloul, Afifa A; Mezghani, Najla N; Abdelhak, Sonia S; Hamzaoui, Lamine L; Azzouz, Mousaddak M; Boubaker, Samir S

Publication Date: 2019-06-27

Variant appearance in text: MSH2: 1552C>T; Q518X; rs63750780

PubMed Link: 31248416

Variant Present in the following documents:

• Main text
• 12967_2019_Article_1961.pdf

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Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human Mutation

Kansikas, Minttu M; Kariola, Reetta R; Nyström, Minna M

Publication Date: 2011-01

Variant appearance in text: MSH2: 1552C>T

PubMed Link: 21120944

Variant Present in the following documents:

• humu0032-0107.pdf

View BVdb publication page

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