Publications:

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs750705904

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6

View BVdb publication page

NGS Analysis Confirms Common TP53 and RB1 Mutations, and Suggests MYC Amplification in Ocular Adnexal Sebaceous Carcinomas.

International Journal Of Molecular Sciences

Peterson, Cornelia C; Moore, Robert R; Hicks, Jessica L JL; Morsberger, Laura A LA; De Marzo, Angelo M AM; Zou, Ying Y; Eberhart, Charles G CG; Campbell, Ashley A AA

Publication Date: 2021-08-06

Variant appearance in text: PTEN: P281A

PubMed Link: 34445161

Variant Present in the following documents:

• Main text
• ijms-22-08454.pdf

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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: PTEN: 841C>G; Pro281Ala

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Bmc Cancer

Young, Erin L EL; Thompson, Bryony A BA; Neklason, Deborah W DW; Firpo, Matthew A MA; Werner, Theresa T; Bell, Russell R; Berger, Justin J; Fraser, Alison A; Gammon, Amanda A; Koptiuch, Cathryn C; Kohlmann, Wendy K WK; Neumayer, Leigh L; Goldgar, David E DE; Mulvihill, Sean J SJ; Cannon-Albright, Lisa A LA; Tavtigian, Sean V SV

Publication Date: 2018-06-27

Variant appearance in text: PTEN: 841C>G; P281A

PubMed Link: 29945567

Variant Present in the following documents:

• 12885_2018_4573_MOESM1_ESM.xlsx, sheet 2

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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: PTEN: 841C>G; Pro281Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page