Publications:

---

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

---

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass

Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J

Publication Date: 2023-03

Variant appearance in text: N/A

PubMed Link: 36816149

Variant Present in the following documents:

View BVdb publication page

---

Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por

Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A

Publication Date: 2021

Variant appearance in text: MLH1: Ser577Ser

PubMed Link: 35002543

Variant Present in the following documents:

• Main text
• pore-27-1610013.pdf
• Table4.xlsx, sheet 1

View BVdb publication page

---

The web-based multiplex PCR primer design software Ultiplex and the associated experimental workflow: up to 100- plex multiplicity.

Bmc Genomics

Yuan, Jie J; Yi, Ji J; Zhan, Meixiao M; Xie, Qingqing Q; Zhen, Ting Ting TT; Zhou, Jian J; Li, Zeqing Z; Li, Zhou Z

Publication Date: 2021-11-18

Variant appearance in text: rs63751657

PubMed Link: 34794394

Variant Present in the following documents:

• Main text
• 12864_2021_Article_8149.pdf

View BVdb publication page

---

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: MLH1: Ser577=; rs63751657

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 1

View BVdb publication page

---

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Cancer Communications (London, England)

Ferrer-Avargues, Rosario R; Castillejo, María Isabel MI; Dámaso, Estela E; Díez-Obrero, Virginia V; Garrigos, Noemí N; Molina, Tatiana T; Codoñer-Alejos, Alan A; Segura, Ángel Á; Sánchez-Heras, Ana Beatriz AB; Castillejo, Adela A; Soto, José Luis JL

Publication Date: 2021-03

Variant appearance in text: MLH1: Ser577=

PubMed Link: 33630411

Variant Present in the following documents:

• CAC2-41-218-s001.xlsx, sheet 3

View BVdb publication page

---

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics

Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2020-11-30

Variant appearance in text: MLH1: S577S

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.

Cancer

Kim, Soyoun Rachel SR; Tone, Alicia A; Kim, Raymond H RH; Cesari, Matthew M; Clarke, Blaise A BA; Eiriksson, Lua L; Hart, Tae T; Aronson, Melyssa M; Holter, Spring S; Lytwyn, Alice A; Maganti, Manjula M; Oldfield, Leslie L; Gallinger, Steven S; Bernardini, Marcus Q MQ; Oza, Amit M AM; Djordjevic, Bojana B; Lerner-Ellis, Jordan J; Van de Laar, Emily E; Vicus, Danielle D; Pugh, Trevor J TJ; Pollett, Aaron A; Ferguson, Sarah E SE

Publication Date: 2020-11-15

Variant appearance in text: MLH1: Ser577Ser

PubMed Link: 32809219

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comprehensive characterisation of pancreatic ductal adenocarcinoma with microsatellite instability: histology, molecular pathology and clinical implications.

Gut

Luchini, Claudio C; Brosens, Lodewijk A A LAA; Wood, Laura D LD; Chatterjee, Deyali D; Shin, Jae Il JI; Sciammarella, Concetta C; Fiadone, Giulia G; Malleo, Giuseppe G; Salvia, Roberto R; Kryklyva, Valentyna V; Piredda, Maria L ML; Cheng, Liang L; Lawlor, Rita T RT; Adsay, Volkan V; Scarpa, Aldo A

Publication Date: 2021-01

Variant appearance in text: MLH1: Ser577Ser

PubMed Link: 32350089

Variant Present in the following documents:

• Main text
• gutjnl-2020-320726.pdf

View BVdb publication page

---

Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: MLH1: S577S

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 46

View BVdb publication page

---

Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes.

Journal Of Community Genetics

Kerr, Iain D ID; Cox, Hannah C HC; Moyes, Kelsey K; Evans, Brent B; Burdett, Brianna C BC; van Kan, Aric A; McElroy, Heather H; Vail, Paris J PJ; Brown, Krystal L KL; Sumampong, Dechie B DB; Monteferrante, Nicholas J NJ; Hardman, Kennedy L KL; Theisen, Aaron A; Mundt, Erin E; Wenstrup, Richard J RJ; Eggington, Julie M JM

Publication Date: 2017-04

Variant appearance in text: N/A

PubMed Link: 28050887

Variant Present in the following documents:

View BVdb publication page

---

Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.

Hereditary Cancer In Clinical Practice

Simbolo, Michele M; Mafficini, Andrea A; Agostini, Marco M; Pedrazzani, Corrado C; Bedin, Chiara C; Urso, Emanuele D ED; Nitti, Donato D; Turri, Giona G; Scardoni, Maria M; Fassan, Matteo M; Scarpa, Aldo A

Publication Date: 2015

Variant appearance in text: N/A

PubMed Link: 26300997

Variant Present in the following documents:

View BVdb publication page

---

Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1.

Molecular Cancer

Hinrichsen, Inga I; Ernst, Benjamin Philipp BP; Nuber, Franziska F; Passmann, Sandra S; Schäfer, Dieter D; Steinke, Verena V; Friedrichs, Nicolaus N; Plotz, Guido G; Zeuzem, Stefan S; Brieger, Angela A

Publication Date: 2014-01-24

Variant appearance in text: N/A

PubMed Link: 24456667

Variant Present in the following documents:

View BVdb publication page

---

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: N/A

PubMed Link: 24278394

Variant Present in the following documents:

View BVdb publication page

---

Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.

Familial Cancer

Jasperson, Kory W KW; Vu, Thuy M TM; Schwab, Angela L AL; Neklason, Deborah W DW; Rodriguez-Bigas, Miguel A MA; Burt, Randall W RW; Weitzel, Jeffrey N JN

Publication Date: 2010-06

Variant appearance in text: N/A

PubMed Link: 19731080

Variant Present in the following documents:

View BVdb publication page

---