Publications:

Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

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

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: MSH6: 2291C>T; T764I

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1

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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: 2291C>T; Thr764Ile; rs561198849

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget

Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-11-21

Variant appearance in text: MSH6: T764I

PubMed Link: 29245953

Variant Present in the following documents:

• oncotarget-08-99966-s003.xlsx, sheet 2

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Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

European Journal Of Human Genetics : Ejhg

Elsayed, Fadwa A FA; Kets, C Marleen CM; Ruano, Dina D; van den Akker, Brendy B; Mensenkamp, Arjen R AR; Schrumpf, Melanie M; Nielsen, Maartje M; Wijnen, Juul T JT; Tops, Carli M CM; Ligtenberg, Marjolijn J MJ; Vasen, Hans F A HF; Hes, Frederik J FJ; Morreau, Hans H; van Wezel, Tom T

Publication Date: 2015-08

Variant appearance in text: MSH6: 2291C>T; Thr764Ile

PubMed Link: 25370038

Variant Present in the following documents:

• Main text

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