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: 842C>A; Ser281Ter; rs63749991

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: 842C>A; Ser281Ter

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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Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma.

Cancers

Sánchez, Ariadna A; Bujanda, Luis L; Cuatrecasas, Miriam M; Bofill, Alex A; Alvarez-Urturi, Cristina C; Hernandez, Goretti G; Aguilera, Lara L; Carballal, Sabela S; Llach, Joan J; Herrera-Pariente, Cristina C; Iglesias, Mar M; Rivero-Sánchez, Liseth L; Jung, Gerhard G; Moreno, Lorena L; Ocaña, Teresa T; Bayarri, Carolina C; Pellise, Maria M; Castells, Antoni A; Castellví-Bel, Sergi S; Balaguer, Francesc F; Moreira, Leticia L

Publication Date: 2021-12-20

Variant appearance in text: MSH2: Ser281Ter

PubMed Link: 34944998

Variant Present in the following documents:

• Main text
• cancers-13-06378.pdf

View BVdb publication page

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Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma.

Cancers

Sánchez, Ariadna A; Bujanda, Luis L; Cuatrecasas, Miriam M; Bofill, Alex A; Alvarez-Urturi, Cristina C; Hernandez, Goretti G; Aguilera, Lara L; Carballal, Sabela S; Llach, Joan J; Herrera-Pariente, Cristina C; Iglesias, Mar M; Rivero-Sánchez, Liseth L; Jung, Gerhard G; Moreno, Lorena L; Ocaña, Teresa T; Bayarri, Carolina C; Pellise, Maria M; Castells, Antoni A; Castellví-Bel, Sergi S; Balaguer, Francesc F; Moreira, Leticia L

Publication Date: 2021-12-20

Variant appearance in text: MSH2: Ser281Ter

PubMed Link: 34944998

Variant Present in the following documents:

• Main text
• cancers-13-06378.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: 842C>A; S281X; rs63749991

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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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: Ser281X

PubMed Link: 31248416

Variant Present in the following documents:

• Main text
• 12967_2019_Article_1961.pdf

View BVdb publication page

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