Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MLH1: 979C>T; Gln327Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: MLH1: 979C>T; Gln327Ter

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

The Journal Of Pathology

Aguilar, Mitzi M; Zhang, He H; Zhang, Musi M; Cantarell, Brandi B; Sahoo, Subhransu S SS; Li, Hao-Dong HD; Cuevas, Ileana C IC; Lea, Jayanthi J; Miller, David S DS; Chen, Hao H; Zheng, Wenxin W; Gagan, Jeffrey J; Lucas, Elena E; Castrillon, Diego H DH

Publication Date: 2021-05

Variant appearance in text: MLH1: Q327*

PubMed Link: 33506979

Variant Present in the following documents:

• PATH-254-20-s005.xlsx, sheet 2

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Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

The Journal Of Pathology

Aguilar, Mitzi M; Zhang, He H; Zhang, Musi M; Cantarell, Brandi B; Sahoo, Subhransu S SS; Li, Hao-Dong HD; Cuevas, Ileana C IC; Lea, Jayanthi J; Miller, David S DS; Chen, Hao H; Zheng, Wenxin W; Gagan, Jeffrey J; Lucas, Elena E; Castrillon, Diego H DH

Publication Date: 2021-05

Variant appearance in text: MLH1: Q327*

PubMed Link: 33506979

Variant Present in the following documents:

• PATH-254-20-s005.xlsx, sheet 2

View BVdb publication page

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Comparison of long-term outcomes between Lynch sydrome and sporadic colorectal cancer: a propensity score matching analysis.

Bmc Cancer

Xu, Yun Y; Li, Cong C; Zheng, Charlie Zhi-Lin CZ; Zhang, Yu-Qin YQ; Guo, Tian-An TA; Liu, Fang-Qi FQ; Xu, Ye Y

Publication Date: 2021-01-09

Variant appearance in text: MLH1: 979C>T; Gln327Ter

PubMed Link: 33422027

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7771.pdf

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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Nature Communications

Chubb, Daniel D; Broderick, Peter P; Dobbins, Sara E SE; Frampton, Matthew M; Kinnersley, Ben B; Penegar, Steven S; Price, Amy A; Ma, Yussanne P YP; Sherborne, Amy L AL; Palles, Claire C; Timofeeva, Maria N MN; Bishop, D Timothy DT; Dunlop, Malcolm G MG; Tomlinson, Ian I; Houlston, Richard S RS

Publication Date: 2016-06-22

Variant appearance in text: MLH1: 979C>T; Gln327Ter

PubMed Link: 27329137

Variant Present in the following documents:

• ncomms11883-s1.pdf

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Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Gastroenterology

Haraldsdottir, Sigurdis S; Hampel, Heather H; Tomsic, Jerneja J; Frankel, Wendy L WL; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC

Publication Date: 2014-12

Variant appearance in text: MLH1: 979C>T

PubMed Link: 25194673

Variant Present in the following documents:

• Main text

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Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.

Familial Cancer

Jasperson, Kory W KW; Vu, Thuy M TM; Schwab, Angela L AL; Neklason, Deborah W DW; Rodriguez-Bigas, Miguel A MA; Burt, Randall W RW; Weitzel, Jeffrey N JN

Publication Date: 2010-06

Variant appearance in text: MLH1: Q327X

PubMed Link: 19731080

Variant Present in the following documents:

• Main text

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