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: MLH1: 1464_1468delGGAAA; Lys488Asnfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Buchanan, Daniel D DD; Tan, Yen Y YY; Walsh, Michael D MD; Clendenning, Mark M; Metcalf, Alexander M AM; Ferguson, Kaltin K; Arnold, Sven T ST; Thompson, Bryony A BA; Lose, Felicity A FA; Parsons, Michael T MT; Walters, Rhiannon J RJ; Pearson, Sally-Ann SA; Cummings, Margaret M; Oehler, Martin K MK; Blomfield, Penelope B PB; Quinn, Michael A MA; Kirk, Judy A JA; Stewart, Colin J CJ; Obermair, Andreas A; Young, Joanne P JP; Webb, Penelope M PM; Spurdle, Amanda B AB

Publication Date: 2014-01-10

Variant appearance in text: MLH1: 1464_1468del; Lys488Asnfs

PubMed Link: 24323032

Variant Present in the following documents:

• Main text

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BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome.

The American Journal Of Surgical Pathology

Toon, Christopher W CW; Walsh, Michael D MD; Chou, Angela A; Capper, David D; Clarkson, Adele A; Sioson, Loretta L; Clarke, Stephen S; Mead, Scott S; Walters, Rhiannon J RJ; Clendenning, Mark M; Rosty, Christophe C; Young, Joanne P JP; Win, Aung Ko AK; Hopper, John L JL; Crook, Ashley A; von Deimling, Andreas A; Jenkins, Mark A MA; Buchanan, Daniel D DD; Gill, Anthony J AJ

Publication Date: 2013-10

Variant appearance in text: MLH1: 1464_1468delGGAAA

PubMed Link: 23797718

Variant Present in the following documents:

• Main text

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Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.

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

Walsh, Michael D MD; Buchanan, Daniel D DD; Pearson, Sally-Ann SA; Clendenning, Mark M; Jenkins, Mark A MA; Win, Aung Ko AK; Walters, Rhiannon J RJ; Spring, Kevin J KJ; Nagler, Belinda B; Pavluk, Erika E; Arnold, Sven T ST; Goldblatt, Jack J; George, Jill J; Suthers, Graeme K GK; Phillips, Kerry K; Hopper, John L JL; Jass, Jeremy R JR; Baron, John A JA; Ahnen, Dennis J DJ; Thibodeau, Stephen N SN; Lindor, Noralane N; Parry, Susan S; Walker, Neal I NI; Rosty, Christophe C; Young, Joanne P JP

Publication Date: 2012-05

Variant appearance in text: MLH1: 1464_1468delGGAAA; Lys488fs

PubMed Link: 22322191

Variant Present in the following documents:

• Main text

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