Publications:

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: MLH1: 677+3A>G

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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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: 677+3A>G

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: MLH1: 677+3A>G

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 5

View BVdb publication page

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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics

Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,

Publication Date: 2020

Variant appearance in text: MLH1: 677+3A>G

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: MLH1: 677+3A>G

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Comprehensive characterisation of pancreatic ductal adenocarcinoma with microsatellite instability: histology, molecular pathology and clinical implications.

Gut

Luchini, Claudio C; Brosens, Lodewijk A A LAA; Wood, Laura D LD; Chatterjee, Deyali D; Shin, Jae Il JI; Sciammarella, Concetta C; Fiadone, Giulia G; Malleo, Giuseppe G; Salvia, Roberto R; Kryklyva, Valentyna V; Piredda, Maria L ML; Cheng, Liang L; Lawlor, Rita T RT; Adsay, Volkan V; Scarpa, Aldo A

Publication Date: 2021-01

Variant appearance in text: MLH1: 677+3A>G

PubMed Link: 32350089

Variant Present in the following documents:

• Main text
• gutjnl-2020-320726.pdf

View BVdb publication page

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Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.

Journal Of Cancer

Liu, Qiang Q; Tan, Yue-Qiu YQ

Publication Date: 2019

Variant appearance in text: MLH1: 677+3A>G

PubMed Link: 30719162

Variant Present in the following documents:

• Main text
• jcav10p0643.pdf

View BVdb publication page

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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: MLH1: 677+3A>G

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

Bmj Open

Rosty, Christophe C; Clendenning, Mark M; Walsh, Michael D MD; Eriksen, Stine V SV; Southey, Melissa C MC; Winship, Ingrid M IM; Macrae, Finlay A FA; Boussioutas, Alex A; Poplawski, Nicola K NK; Parry, Susan S; Arnold, Julie J; Young, Joanne P JP; Casey, Graham G; Haile, Robert W RW; Gallinger, Steven S; Le Marchand, Loïc L; Newcomb, Polly A PA; Potter, John D JD; DeRycke, Melissa M; Lindor, Noralane M NM; Thibodeau, Stephen N SN; Baron, John A JA; Win, Aung Ko AK; Hopper, John L JL; Jenkins, Mark A MA; Buchanan, Daniel D DD; ,

Publication Date: 2016-02-19

Variant appearance in text: MLH1: 677+3A>G

PubMed Link: 26895986

Variant Present in the following documents:

• Main text
• bmjopen-2015-010293.pdf

View BVdb publication page

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Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

Gastroenterology

Grant, Robert C RC; Selander, Iris I; Connor, Ashton A AA; Selvarajah, Shamini S; Borgida, Ayelet A; Briollais, Laurent L; Petersen, Gloria M GM; Lerner-Ellis, Jordan J; Holter, Spring S; Gallinger, Steven S

Publication Date: 2015-03

Variant appearance in text: MLH1: 677+3A>G

PubMed Link: 25479140

Variant Present in the following documents:

• Main text

View BVdb publication page

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