Publications:

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: MSH6: 2690del; N897Ifs*9

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: MSH6: 2685delA

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

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Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Hechtman, Jaclyn F JF; Rana, Satshil S; Middha, Sumit S; Stadler, Zsofia K ZK; Latham, Alicia A; Benayed, Ryma R; Soslow, Robert R; Ladanyi, Marc M; Yaeger, Rona R; Zehir, Ahmet A; Shia, Jinru J

Publication Date: 2020-05

Variant appearance in text: MSH6: 2690delA; N897Ifs*9

PubMed Link: 31857677

Variant Present in the following documents:

• Main text
• nihms-1541744.pdf

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Microsatellite instability in prostate cancer by PCR or next-generation sequencing.

Journal For Immunotherapy Of Cancer

Hempelmann, Jennifer A JA; Lockwood, Christina M CM; Konnick, Eric Q EQ; Schweizer, Michael T MT; Antonarakis, Emmanuel S ES; Lotan, Tamara L TL; Montgomery, Bruce B; Nelson, Peter S PS; Klemfuss, Nola N; Salipante, Stephen J SJ; Pritchard, Colin C CC

Publication Date: 2018-04-17

Variant appearance in text: MSH6: 2690del

PubMed Link: 29665853

Variant Present in the following documents:

• 40425_2018_341_MOESM2_ESM.xlsx, sheet 2

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Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer.

Nature Communications

Pritchard, Colin C CC; Morrissey, Colm C; Kumar, Akash A; Zhang, Xiaotun X; Smith, Christina C; Coleman, Ilsa I; Salipante, Stephen J SJ; Milbank, Jennifer J; Yu, Ming M; Grady, William M WM; Tait, Jonathan F JF; Corey, Eva E; Vessella, Robert L RL; Walsh, Tom T; Shendure, Jay J; Nelson, Peter S PS

Publication Date: 2014-09-25

Variant appearance in text: MSH6: 2690del; N897IfsX9

PubMed Link: 25255306

Variant Present in the following documents:

• Main text
• ncomms5988-s1.pdf
• ncomms5988.pdf

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