Publications:

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: SIPA1: 2760G>A; Ala920Ala; rs746429

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

---

Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.

Embo Molecular Medicine

Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R

Publication Date: 2021-08-09

Variant appearance in text: SIPA1: 2760G>A; Ala920=; rs746429

PubMed Link: 34291583

Variant Present in the following documents:

• EMMM-13-e12881-s010.xlsx, sheet 1

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: SIPA1: Ala920Ala; rs746429

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

EBF1 drives hallmark B cell gene expression by enabling the interaction of PAX5 with the MLL H3K4 methyltransferase complex.

Scientific Reports

Bullerwell, Charles E CE; Robichaud, Philippe Pierre PP; Deprez, Pierre M L PML; Joy, Andrew P AP; Wajnberg, Gabriel G; D'Souza, Darwin D; Chacko, Simi S; Fournier, Sébastien S; Crapoulet, Nicolas N; Barnett, David A DA; Lewis, Stephen M SM; Ouellette, Rodney J RJ

Publication Date: 2021-01-15

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 33452395

Variant Present in the following documents:

• 41598_2021_81000_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: SIPA1: 2760G>A; A920A; rs746429

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: SIPA1: 2760G>A; Ala920Ala

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

The role of SIPA1 in the development of cancer and metastases (Review).

Molecular And Clinical Oncology

Liu, Chang C; Jiang, Wen Guo WG; Hargest, Rachel R; Martin, Tracey Amanda TA

Publication Date: 2020-10

Variant appearance in text: rs746429

PubMed Link: 32789016

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs746429

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk.

Npj Genomic Medicine

Jacinta-Fernandes, Ana A; Xavier, Joana M JM; Magno, Ramiro R; Lage, Joel G JG; Maia, Ana-Teresa AT

Publication Date: 2020

Variant appearance in text: rs746429

PubMed Link: 32128252

Variant Present in the following documents:

• 41525_2019_112_MOESM1_ESM.pdf

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: SIPA1: 2760G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs746429

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: SIPA1: 2760G>A; rs746429

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

---

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

Single nucleotide variants in metastasis-related genes are associated with breast cancer risk, by lymph node involvement and estrogen receptor status, in women with European and African ancestry.

Molecular Carcinogenesis

Roberts, Michelle R MR; Sucheston-Campbell, Lara E LE; Zirpoli, Gary R GR; Higgins, Michael M; Freudenheim, Jo L JL; Bandera, Elisa V EV; Ambrosone, Christine B CB; Yao, Song S

Publication Date: 2017-03

Variant appearance in text: SIPA1: Ala920Ala; rs746429

PubMed Link: 27597141

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports

Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V

Publication Date: 2015-10-13

Variant appearance in text: rs746429

PubMed Link: 26440892

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

---

Case-only analyses of the associations between polymorphisms in the metastasis-modifying genes BRMS1 and SIPA1 and breast tumor characteristics, lymph node metastasis, and survival.

Breast Cancer Research And Treatment

Roberts, Michelle R MR; Hong, Chi-Chen CC; Edge, Stephen B SB; Yao, Song S; Bshara, Wiam W; Higgins, Michael J MJ; Freudenheim, Jo L JL; Ambrosone, Christine B CB

Publication Date: 2013-06

Variant appearance in text: SIPA1: Ala920Ala; rs746429

PubMed Link: 23771732

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polymorphisms in MMP9 and SIPA1 are associated with increased risk of nodal metastases in early-stage cervical cancer.

Gynecologic Oncology

Brooks, Rebecca R; Kizer, Nora N; Nguyen, Loan L; Jaishuen, Atthapon A; Wanat, Karolyn K; Nugent, Elizabeth E; Grigsby, Perry P; Allsworth, Jenifer E JE; Rader, Janet S JS

Publication Date: 2010-03

Variant appearance in text: rs746429

PubMed Link: 19906411

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polymorphisms of the SIPA1 gene and sporadic breast cancer susceptibility.

Bmc Cancer

Hsieh, Szu-Min SM; Smith, Robert A RA; Lintell, Nicholas A NA; Hunter, Kent W KW; Griffiths, Lyn R LR

Publication Date: 2009-09-18

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 19765277

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic variation in SIPA1 in relation to breast cancer risk and survival after breast cancer diagnosis.

International Journal Of Cancer

Gaudet, Mia M MM; Hunter, Kent K; Pharoah, Paul P; Dunning, Alison M AM; Driver, Kristy K; Lissowska, Jolanta J; Sherman, Mark M; Peplonska, Beata B; Brinton, Louise A LA; Chanock, Stephen S; Garcia-Closas, Montserrat M

Publication Date: 2009-04-01

Variant appearance in text: rs746429

PubMed Link: 19089925

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Germline polymorphisms in SIPA1 are associated with metastasis and other indicators of poor prognosis in breast cancer.

Breast Cancer Research : Bcr

Crawford, Nigel P S NP; Ziogas, Argyrios A; Peel, David J DJ; Hess, James J; Anton-Culver, Hoda H; Hunter, Kent W KW

Publication Date: 2006

Variant appearance in text: SIPA1: A920A; rs746429

PubMed Link: 16563182

Variant Present in the following documents:

• Main text
• bcr1389.pdf

View BVdb publication page

---