PMS1 c.2343-693A>G

Variant ID: 2-190731832-A-G

NM_000534.4(PMS1):c.2343-693A>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs256563
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Distinct cancer-specific survival in metastatic prostate cancer patients classified by a panel of single nucleotide polymorphisms of cancer-associated genes.

Genes & Cancer
Tsuchiya, Norihiko N; Matsui, Shigeyuki S; Narita, Shintaro S; Kamba, Tomomi T; Mitsuzuka, Koji K; Hatakeyama, Shingo S; Horikawa, Yohei Y; Inoue, Takamitsu T; Saito, Seiichi S; Ohyama, Chikara C; Arai, Yoich Y; Ogawa, Osamu O; Habuchi, Tomonori T
Publication Date: 2013-01

Variant appearance in text: rs256563
PubMed Link: 23946871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.

Plos One
Schildkraut, Joellen M JM; Iversen, Edwin S ES; Wilson, Melanie A MA; Clyde, Merlise A MA; Moorman, Patricia G PG; Palmieri, Rachel T RT; Whitaker, Regina R; Bentley, Rex C RC; Marks, Jeffrey R JR; Berchuck, Andrew A
Publication Date: 2010-04-08

Variant appearance in text: rs256563
PubMed Link: 20386703
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between common germline genetic variation in 94 candidate genes or regions and risks of invasive epithelial ovarian cancer.

Plos One
Quaye, Lydia L; Tyrer, Jonathan J; Ramus, Susan J SJ; Song, Honglin H; Wozniak, Eva E; DiCioccio, Richard A RA; McGuire, Valerie V; Høgdall, Estrid E; Høgdall, Claus C; Blaakaer, Jan J; Goode, Ellen L EL; Schildkraut, Joellen M JM; Easton, Douglas F DF; Krüger-Kjaer, Susanne S; Whittemore, Alice S AS; Gayther, Simon A SA; Pharoah, Paul D P PD
Publication Date: 2009-06-19

Variant appearance in text: rs256563
PubMed Link: 19543528
Variant Present in the following documents:
  • Main text
  • pone.0005983.pdf
View BVdb publication page