Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: MLH1: E102A

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: 305A>C

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: 305A>C; Glu102Ala

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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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: 305A>C; E102A

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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: 305A>C; Glu102Ala

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.

Npj Precision Oncology

Landrith, Tyler T; Li, Bing B; Cass, Ashley A AA; Conner, Blair R BR; LaDuca, Holly H; McKenna, Danielle B DB; Maxwell, Kara N KN; Domchek, Susan S; Morman, Nichole A NA; Heinlen, Christopher C; Wham, Deborah D; Koptiuch, Cathryn C; Vagher, Jennie J; Rivera, Ragene R; Bunnell, Ann A; Patel, Gayle G; Geurts, Jennifer L JL; Depas, Morgan M MM; Gaonkar, Shraddha S; Pirzadeh-Miller, Sara S; Krukenberg, Rebekah R; Seidel, Meredith M; Pilarski, Robert R; Farmer, Meagan M; Pyrtel, Khateriaa K; Milliron, Kara K; Lee, John J; Hoodfar, Elizabeth E; Nathan, Deepika D; Ganzak, Amanda C AC; Wu, Sitao S; Vuong, Huy H; Xu, Dong D; Arulmoli, Aarani A; Parra, Melissa M; Hoang, Lily L; Molparia, Bhuvan B; Fennessy, Michele M; Fox, Susanne S; Charpentier, Sinead S; Burdette, Julia J; Pesaran, Tina T; Profato, Jessica J; Smith, Brandon B; Haynes, Ginger G; Dalton, Emily E; Crandall, Joy Rae-Radecki JR; Baxter, Ruth R; Lu, Hsiao-Mei HM; Tippin-Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E; Karam, Rachid R

Publication Date: 2020

Variant appearance in text: MLH1: 305A>C

PubMed Link: 32133419

Variant Present in the following documents:

• 41698_2020_109_MOESM1_ESM.pdf

View BVdb publication page

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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: MLH1: E102A

PubMed Link: 31857677

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Jama Network Open

Karam, Rachid R; Conner, Blair B; LaDuca, Holly H; McGoldrick, Kelly K; Krempely, Kate K; Richardson, Marcy E ME; Zimmermann, Heather H; Gutierrez, Stephanie S; Reineke, Patrick P; Hoang, Lily L; Allen, Kyle K; Yussuf, Amal A; Farber-Katz, Suzette S; Rana, Huma Q HQ; Culver, Samantha S; Lee, John J; Nashed, Sarah S; Toppmeyer, Deborah D; Collins, Debra D; Haynes, Ginger G; Pesaran, Tina T; Dolinsky, Jill S JS; Tippin Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E

Publication Date: 2019-10-02

Variant appearance in text: MLH1: 305A>C; E102A

PubMed Link: 31642931

Variant Present in the following documents:

• jamanetwopen-2-e1913900-s001.pdf

View BVdb publication page

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