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: 182A>C; Q61P; rs587779113

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.

Jco Precision Oncology

Pemov, Alexander A; Wegman-Ostrosky, Talia T; Kim, Jung J; Koutros, Stella S; Douthitt, Brenna B; Jones, Kristine K; Zhu, Bin B; Baris, Dalsu D; Schwenn, Molly M; Johnson, Alison A; Karagas, Margaret R MR; Carter, Brian D BD; McCullough, Marjorie L ML; Landi, Maria Teresa MT; Freedman, Neal D ND; Albanes, Demetrius D; Silverman, Debra T DT; Rothman, Nathaniel N; Caporaso, Neil E NE; Greene, Mark H MH; Fraumeni, Joseph F JF; Stewart, Douglas R DR

Publication Date: 2021

Variant appearance in text: MSH2: 182A>C; Q61P

PubMed Link: 34964002

Variant Present in the following documents:

• Main text
• po-5-po.21.00115.pdf

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 182A>C; Gln61Pro

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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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: HNPCC1: Q61P

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases.

Cancers

Zanti, Maria M; Loizidou, Maria A MA; Michailidou, Kyriaki K; Pirpa, Panagiota P; Machattou, Christina C; Marcou, Yiola Y; Kyriakou, Flora F; Kakouri, Eleni E; Tanteles, George A GA; Spanou, Elena E; Spyrou, George M GM; Kyriacou, Kyriacos K; Hadjisavvas, Andreas A

Publication Date: 2020-10-27

Variant appearance in text: MSH2: 182A>C; Gln61Pro

PubMed Link: 33120919

Variant Present in the following documents:

• cancers-12-03140-s001.pdf

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Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.

Journal Of Clinical Medicine

Germani, Aldo A; Petrucci, Simona S; De Marchis, Laura L; Libi, Fabio F; Savio, Camilla C; Amanti, Claudio C; Bonifacino, Adriana A; Campanella, Barbara B; Capalbo, Carlo C; Lombardi, Augusto A; Maggi, Stefano S; Mattei, Mauro M; Osti, Mattia Falchetto MF; Pellegrini, Patrizia P; Speranza, Annarita A; Stanzani, Gianluca G; Vitale, Valeria V; Pizzuti, Antonio A; Torrisi, Maria Rosaria MR; Piane, Maria M

Publication Date: 2020-09-17

Variant appearance in text: MSH2: 182A>C; Gln61Pro; rs587779113

PubMed Link: 32957588

Variant Present in the following documents:

• Main text
• jcm-09-03003.pdf
• jcm-09-03003-s001.pdf

View BVdb publication page

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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: MSH2: 182A>C; Gln61Pro; rs587779113

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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The mutational spectrum of Lynch syndrome in cyprus.

Plos One

Loizidou, Maria A MA; Neophytou, Ioanna I; Papamichael, Demetris D; Kountourakis, Panteleimon P; Vassiliou, Vassilios V; Marcou, Yiola Y; Kakouri, Eleni E; Ioannidis, Georgios G; Philippou, Chrystalla C; Spanou, Elena E; Tanteles, George A GA; Anastasiadou, Violetta V; Hadjisavvas, Andreas A; Kyriacou, Kyriacos K

Publication Date: 2014

Variant appearance in text: MSH2: Gln61Pro

PubMed Link: 25133505

Variant Present in the following documents:

• Main text
• pone.0105501.pdf

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Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Martinez, Sandra L SL; Kolodner, Richard D RD

Publication Date: 2010-03-16

Variant appearance in text: MSH2: Q61P

PubMed Link: 20176959

Variant Present in the following documents:

• Main text

View BVdb publication page

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