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: PMS2: 2404C>T; R802*; rs63751466

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

Bmc Medical Genomics

Hassanin, Emadeldin E; Spier, Isabel I; Bobbili, Dheeraj R DR; Aldisi, Rana R; Klinkhammer, Hannah H; David, Friederike F; Dueñas, Nuria N; Hüneburg, Robert R; Perne, Claudia C; Brunet, Joan J; Capella, Gabriel G; Nöthen, Markus M MM; Forstner, Andreas J AJ; Mayr, Andreas A; Krawitz, Peter P; May, Patrick P; Aretz, Stefan S; Maj, Carlo C

Publication Date: 2023-03-05

Variant appearance in text: PMS2: 2404C>T; R802X; rs63751466

PubMed Link: 36872334

Variant Present in the following documents:

• 12920_2023_1469_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

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: PMS2: 2404C>T; Arg802Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: PMS2: 2404C>T; Arg802Ter; rs63751466

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS5.xlsx, sheet 2
• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 3

View BVdb publication page

---

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine

Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M

Publication Date: 2021-12-02

Variant appearance in text: PMS2: 2404C>T; Arg802Ter

PubMed Link: 34857041

Variant Present in the following documents:

• 13073_2021_978_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Cancer Research And Treatment

Park, Ji Soo JS; Shin, Saeam S; Lee, Yoon Jung YJ; Lee, Seung-Tae ST; Nam, Eun Ji EJ; Han, Jung Woo JW; Lee, Sun Hwa SH; Kim, Tae Il TI; Park, Hyung Seok HS

Publication Date: 2022-10

Variant appearance in text: PMS2: 2404C>T; Arg802Ter; rs63751466

PubMed Link: 34793666

Variant Present in the following documents:

• crt-2021-978_S3_Table.pdf

View BVdb publication page

---

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: PMS2: 2404C>T; Arg802Ter; rs63751466

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

Lynch Syndrome in Thai Endometrial Cancer Patients.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Manchana, Tarinee T; Ariyasriwatana, Chai C; Triratanachat, Surang S; Phowthongkum, Prasit P

Publication Date: 2021-05-01

Variant appearance in text: PMS2: 2404C>T; Arg802*

PubMed Link: 34048176

Variant Present in the following documents:

• Main text
• APJCP-22-1477.pdf

View BVdb publication page

---

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: PMS2: 2404C>T; Arg802*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2
• jamaoncol-e207987-s006.xlsx, sheet 2

View BVdb publication page

---

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.

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

Perez-Valencia, Juan A JA; Gallon, Richard R; Chen, Yunjia Y; Koch, Jakob J; Keller, Markus M; Oberhuber, Klaus K; Gomes, Alicia A; Zschocke, Johannes J; Burn, John J; Jackson, Michael S MS; Santibanez-Koref, Mauro M; Messiaen, Ludwine L; Wimmer, Katharina K

Publication Date: 2020-12

Variant appearance in text: PMS2: 2404C>T; Arg802*

PubMed Link: 32773772

Variant Present in the following documents:

• Main text

View BVdb publication page

---

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

International Journal Of Molecular Sciences

Caja, Fabian F; Vodickova, Ludmila L; Kral, Jan J; Vymetalkova, Veronika V; Naccarati, Alessio A; Vodicka, Pavel P

Publication Date: 2020-08-03

Variant appearance in text: PMS2: Arg802X

PubMed Link: 32756484

Variant Present in the following documents:

• Main text
• ijms-21-05561.pdf

View BVdb publication page

---

Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: PMS2: 2404C>T; Arg802X

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

---

Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene.

Human Mutation

D'Arcy, Brandon M BM; Blount, Jessa J; Prakash, Aishwarya A

Publication Date: 2019-04

Variant appearance in text: PMS2: 2404C>T; Arg802*

PubMed Link: 30653781

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Precision oncology in the age of integrative genomics.

Nature Biotechnology

Kumar-Sinha, Chandan C; Chinnaiyan, Arul M AM

Publication Date: 2018-01-10

Variant appearance in text: PMS2: R802*

PubMed Link: 29319699

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PMS2: 2404C>T; Arg802Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: PMS2: 2404C>T; R802*

PubMed Link: 28152038

Variant Present in the following documents:

• Main text
• pone.0170843.s004.xlsx, sheet 1
• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.pdf

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PMS2: 2404C>T; R802*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Ebiomedicine

Foley, Samantha B SB; Rios, Jonathan J JJ; Mgbemena, Victoria E VE; Robinson, Linda S LS; Hampel, Heather L HL; Toland, Amanda E AE; Durham, Leslie L; Ross, Theodora S TS

Publication Date: 2015-01

Variant appearance in text: PMS2: R802X

PubMed Link: 26023681

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.

Cancer Genetics

Plon, Sharon E SE; Wheeler, David A DA; Strong, Louise C LC; Tomlinson, Gail E GE; Pirics, Michael M; Meng, Qingchang Q; Cheung, Hannah C HC; Begin, Phyllis R PR; Muzny, Donna M DM; Lewis, Lora L; Biegel, Jaclyn A JA; Gibbs, Richard A RA

Publication Date: 2011-01

Variant appearance in text: PMS2: 2404C>T; R802X

PubMed Link: 21356188

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.

The Journal Of Experimental Medicine

Péron, Sophie S; Metin, Ayse A; Gardès, Pauline P; Alyanakian, Marie-Alexandra MA; Sheridan, Eamonn E; Kratz, Christian Peter CP; Fischer, Alain A; Durandy, Anne A

Publication Date: 2008-10-27

Variant appearance in text: PMS2: R802X

PubMed Link: 18824584

Variant Present in the following documents:

• Main text
• jem2052465.pdf

View BVdb publication page

---

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

Gastroenterology

Senter, Leigha L; Clendenning, Mark M; Sotamaa, Kaisa K; Hampel, Heather H; Green, Jane J; Potter, John D JD; Lindblom, Annika A; Lagerstedt, Kristina K; Thibodeau, Stephen N SN; Lindor, Noralane M NM; Young, Joanne J; Winship, Ingrid I; Dowty, James G JG; White, Darren M DM; Hopper, John L JL; Baglietto, Laura L; Jenkins, Mark A MA; de la Chapelle, Albert A

Publication Date: 2008-08

Variant appearance in text: PMS2: 2404C>T; R802X

PubMed Link: 18602922

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.

Neuro-Oncology

Gururangan, Sridharan S; Frankel, Wendy W; Broaddus, Russell R; Clendenning, Mark M; Senter, Leigha L; McDonald, Marie M; Eastwood, James J; Reardon, David D; Vredenburgh, James J; Quinn, Jennifer J; Friedman, Henry S HS

Publication Date: 2008-02

Variant appearance in text: PMS2: R802X

PubMed Link: 17993636

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

American Journal Of Human Genetics

De Vos, Michel M; Hayward, Bruce E BE; Picton, Susan S; Sheridan, Eamonn E; Bonthron, David T DT

Publication Date: 2004-05

Variant appearance in text: PMS2: R802X

PubMed Link: 15077197

Variant Present in the following documents:

• Main text

View BVdb publication page

---