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: MLH1: 1460G>A; R487Q; rs587778917

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.

Frontiers In Oncology

Andrikopoulou, Angeliki A; Zografos, Eleni E; Apostolidou, Kleoniki K; Kyriazoglou, Anastasios A; Papatheodoridi, Alksistis-Maria AM; Kaparelou, Maria M; Koutsoukos, Konstantinos K; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F

Publication Date: 2022

Variant appearance in text: rs587778917

PubMed Link: 36531003

Variant Present in the following documents:

• Main text
• fonc-12-1030786.pdf

View BVdb publication page

---

Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Genome Medicine

Berrino, Enrico E; Annaratone, Laura L; Bellomo, Sara Erika SE; Ferrero, Giulio G; Gagliardi, Amedeo A; Bragoni, Alberto A; Grassini, Dora D; Guarrera, Simonetta S; Parlato, Caterina C; Casorzo, Laura L; Panero, Mara M; Sarotto, Ivana I; Giordano, Silvia S; Cereda, Matteo M; Montemurro, Filippo F; Ponzone, Riccardo R; Crosetto, Nicola N; Naccarati, Alessio A; Sapino, Anna A; Marchiò, Caterina C

Publication Date: 2022-08-29

Variant appearance in text: MLH1: 1460G>A; Arg487Gln; rs587778917

PubMed Link: 36038884

Variant Present in the following documents:

• 13073_2022_1104_MOESM5_ESM.xlsx, sheet 1

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: HNPCC2: R487Q

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

---

Recurring urothelial carcinomas show genomic rearrangements incompatible with a direct relationship.

Scientific Reports

Marzouka, Nour-Al-Dain NA; Lindgren, David D; Eriksson, Pontus P; Sjödahl, Gottfrid G; Bernardo, Carina C; Liedberg, Fredrik F; Axelson, Håkan H; Höglund, Mattias M

Publication Date: 2020-11-11

Variant appearance in text: MLH1: 1460G>A; R487Q; rs587778917

PubMed Link: 33177554

Variant Present in the following documents:

• 41598_2020_75854_MOESM1_ESM.xlsx, sheet 4

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: MLH1: 1460G>A; Arg487Gln

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

---

Tremelimumab in Combination With Microwave Ablation in Patients With Refractory Biliary Tract Cancer.

Hepatology (Baltimore, Md.)

Xie, Changqing C; Duffy, Austin G AG; Mabry-Hrones, Donna D; Wood, Bradford B; Levy, Elliot E; Krishnasamy, Venkatesh V; Khan, Javed J; Wei, Jun S JS; Agdashian, David D; Tyagi, Manoj M; Gangalapudi, Vineela V; Fioravanti, Suzanne S; Walker, Melissa M; Anderson, Victoria V; Venzon, David D; Figg, William D WD; Sandhu, Milan M; Kleiner, David E DE; Morelli, Maria Pia MP; Floudas, Charalampos S CS; Brar, Gagandeep G; Steinberg, Seth M SM; Korangy, Firouzeh F; Greten, Tim F TF

Publication Date: 2019-05

Variant appearance in text: MLH1: R487Q

PubMed Link: 30578687

Variant Present in the following documents:

• Main text

View BVdb publication page

---

MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques.

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

Brammer, David W DW; Gillespie, Patrick J PJ; Tian, Mei M; Young, Daniel D; Raveendran, Muthuswamy M; Williams, Lawrence E LE; Gagea, Mihai M; Benavides, Fernando J FJ; Perez, Carlos J CJ; Broaddus, Russell R RR; Bernacky, Bruce J BJ; Barnhart, Kirstin F KF; Alauddin, Mian M MM; Bhutani, Manoop S MS; Gibbs, Richard A RA; Sidman, Richard L RL; Pasqualini, Renata R; Arap, Wadih W; Rogers, Jeffrey J; Abee, Christian R CR; Gelovani, Juri G JG

Publication Date: 2018-03-13

Variant appearance in text: MLH1: 1460G>A

PubMed Link: 29490919

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: MLH1: 1460G>A; Arg487Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: MLH1: R487Q

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---