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: 1721T>C; Leu574Pro; rs63751608

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.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: 1721T>C; Leu574Pro

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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Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital.

Cancer Research And Treatment

Kim, Min Hyun MH; Kim, Duck-Woo DW; Lee, Hye Seung HS; Bang, Su Kyung SK; Seo, Soo Hyun SH; Park, Kyung Un KU; Oh, Heung-Kwon HK; Kang, Sung-Bum SB

Publication Date: 2022-03-21

Variant appearance in text: MLH1: 1721T>C

PubMed Link: 35313100

Variant Present in the following documents:

• crt-2021-1512.pdf

View BVdb publication page

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Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports

Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O

Publication Date: 2021-07-20

Variant appearance in text: MLH1: 1721T>C; Leu574Pro

PubMed Link: 34285288

Variant Present in the following documents:

• Main text
• 41598_2021_Article_94292.pdf
• 41598_2021_94292_MOESM1_ESM.xlsx, sheet 2

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: rs63751608

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review.

Hereditary Cancer In Clinical Practice

Jung, Youn-Joon YJ; Kim, Hye Ryoun HR; Kim, Mi Kyung MK; Lee, Eun-Ju EJ

Publication Date: 2021-06-03

Variant appearance in text: MLH1: 1721T>C

PubMed Link: 34082788

Variant Present in the following documents:

• 13053_2021_Article_185.pdf

View BVdb publication page

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Establishment and characterization of 18 human colorectal cancer cell lines.

Scientific Reports

Kim, Soon-Chan SC; Kim, Hyun-Soo HS; Kim, Jae Hyeon JH; Jeong, Nahyun N; Shin, Young-Kyoung YK; Kim, Min Jung MJ; Park, Ji Won JW; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2020-04-22

Variant appearance in text: MLH1: 1721T>C; Leu574Pro

PubMed Link: 32321971

Variant Present in the following documents:

• Main text
• 41598_2020_Article_63812.pdf
• 41598_2020_63812_MOESM1_ESM.pdf

View BVdb publication page

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Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Elife

Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R

Publication Date: 2019-11-07

Variant appearance in text: MLH1: L574P

PubMed Link: 31697235

Variant Present in the following documents:

• Main text
• elife-49138.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MLH1: 1721T>C; L574P

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: MLH1: 1721T>C; L574P

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HNPCC2: L574P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MLH1: L574P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Advances in the study of Lynch syndrome in China.

World Journal Of Gastroenterology

Lu, Jun-Yu JY; Sheng, Jian-Qiu JQ

Publication Date: 2015-06-14

Variant appearance in text: MLH1: 1721T>C

PubMed Link: 26078562

Variant Present in the following documents:

• Main text

View BVdb publication page

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Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Oncology Letters

Zhu, Ming M; Chen, Hui-Mei HM; Wang, Ya-Ping YP

Publication Date: 2013-05

Variant appearance in text: MLH1: 1721T>C; Leu574Pro

PubMed Link: 23760103

Variant Present in the following documents:

• Main text
• ol-05-05-1710.pdf

View BVdb publication page

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