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: 1215C>A; Tyr405Ter; rs63751271

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: 1215C>A; Tyr405Ter

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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Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology

Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH

Publication Date: 2021-11-30

Variant appearance in text: MSH2: 1215C>A; Tyr405*

PubMed Link: 34848827

Variant Present in the following documents:

• Main text
• 41374_2021_Article_694.pdf

View BVdb publication page

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Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology

Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH

Publication Date: 2022-02

Variant appearance in text: MSH2: 1215C>A; Tyr405*

PubMed Link: 34848827

Variant Present in the following documents:

• Main text
• 41374_2021_Article_694.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: 1215C>A; Y405X; rs63751271

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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Molecular Profiling of 22 Primary Atypical Meningiomas Shows the Prognostic Significance of 18q Heterozygous Loss and CDKN2A/B Homozygous Deletion on Recurrence-Free Survival.

Cancers

Barresi, Valeria V; Simbolo, Michele M; Fioravanzo, Adele A; Piredda, Maria Liliana ML; Caffo, Maria M; Ghimenton, Claudio C; Pinna, Giampietro G; Longhi, Michele M; Nicolato, Antonio A; Scarpa, Aldo A

Publication Date: 2021-02-21

Variant appearance in text: MSH2: 1215C>A; Tyr405Ter; rs63751271

PubMed Link: 33670055

Variant Present in the following documents:

• cancers-13-00903-s001.xlsx, sheet 1

View BVdb publication page

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Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.

Journal Of Clinical Medicine

Álvarez, Karin K; Orellana, Paulina P; De la Fuente, Marjorie M; Canales, Tamara T; Pinto, Eliana E; Heine, Claudio C; Solar, Benjamín B; Hurtado, Claudia C; Møller, Pål P; Kronberg, Udo U; Zarate, Alejandro José AJ; Dominguez-Valentin, Mev M; López-Köstner, Francisco F

Publication Date: 2020-06-15

Variant appearance in text: MSH2: 1215C>A; Y405*

PubMed Link: 32549215

Variant Present in the following documents:

• Main text
• jcm-09-01861.pdf

View BVdb publication page

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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

European Journal Of Human Genetics : Ejhg

Morak, Monika M; Schaefer, Kerstin K; Steinke-Lange, Verena V; Koehler, Udo U; Keinath, Susanne S; Massdorf, Trisari T; Mauracher, Brigitte B; Rahner, Nils N; Bailey, Jessica J; Kling, Christiane C; Haeusser, Tanja T; Laner, Andreas A; Holinski-Feder, Elke E

Publication Date: 2019-12

Variant appearance in text: MSH2: 1215C>A; Tyr405*

PubMed Link: 31332305

Variant Present in the following documents:

• Main text

View BVdb publication page

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A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Bmc Cancer

Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M

Publication Date: 2017-09-05

Variant appearance in text: MSH2: 1215C>A; Tyr405*

PubMed Link: 28874130

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3599.pdf

View BVdb publication page

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Lynch syndrome-related small intestinal adenocarcinomas.

Oncotarget

Jun, Sun-Young SY; Lee, Eui-Jin EJ; Kim, Mi-Ju MJ; Chun, Sung Min SM; Bae, Young Kyung YK; Hong, Soon Uk SU; Choi, Jene J; Kim, Joon Mee JM; Jang, Kee-Taek KT; Kim, Jung Yeon JY; Kim, Gwang Il GI; Jung, Soo Jin SJ; Yoon, Ghilsuk G; Hong, Seung-Mo SM

Publication Date: 2017-03-28

Variant appearance in text: MSH2: 1215C>A

PubMed Link: 28206961

Variant Present in the following documents:

• Main text
• oncotarget-08-21483.pdf

View BVdb publication page

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Mutation spectrum in South American Lynch syndrome families.

Hereditary Cancer In Clinical Practice

Dominguez-Valentin, Mev M; Nilbert, Mef M; Wernhoff, Patrik P; López-Köstner, Francisco F; Vaccaro, Carlos C; Sarroca, Carlos C; Palmero, Edenir Ines EI; Giraldo, Alejandro A; Ashton-Prolla, Patricia P; Alvarez, Karin K; Ferro, Alejandra A; Neffa, Florencia F; Caris, Junea J; Carraro, Dirce M DM; Rossi, Benedito M BM

Publication Date: 2013-12-18

Variant appearance in text: MSH2: 1215C>A; Y405X

PubMed Link: 24344984

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

Plos One

De Lellis, Laura L; Aceto, Gitana Maria GM; Curia, Maria Cristina MC; Catalano, Teresa T; Mammarella, Sandra S; Veschi, Serena S; Fantini, Fabiana F; Battista, Pasquale P; Stigliano, Vittoria V; Messerini, Luca L; Mareni, Cristina C; Sala, Paola P; Bertario, Lucio L; Radice, Paolo P; Cama, Alessandro A

Publication Date: 2013

Variant appearance in text: MSH2: 1215C>A; Tyr405*

PubMed Link: 24278394

Variant Present in the following documents:

• Main text
• pone.0081194.pdf

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Some aspects of molecular diagnostics in Lynch syndrome.

Hereditary Cancer In Clinical Practice

Kurzawski, Grzegorz G

Publication Date: 2006-12-15

Variant appearance in text: MSH2: 1215C>A; Y405X

PubMed Link: 20223024

Variant Present in the following documents:

• Main text
• 1897-4287-4-4-197.pdf

View BVdb publication page

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Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

The Journal Of Molecular Diagnostics : Jmd

Dymerska, Dagmara D; Serrano-Fernández, Pablo P; Suchy, Janina J; Pławski, Andrzej A; Słomski, Ryszard R; Kaklewski, Krzysztof K; Scott, Rodney J RJ; Gronwald, Jacek J; Kładny, Józef J; Byrski, Tomasz T; Huzarski, Tomasz T; Lubiński, Jan J; Kurzawski, Grzegorz G

Publication Date: 2010-01

Variant appearance in text: MSH2: 1215C>A

PubMed Link: 20007843

Variant Present in the following documents:

• Main text

View BVdb publication page

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