Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: MSH6: 1196C>T

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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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: MSH6: 1196C>T; Pro399Leu; rs878853701

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Temozolomide Treatment Alters Mismatch Repair and Boosts Mutational Burden in Tumor and Blood of Colorectal Cancer Patients.

Cancer Discovery

Crisafulli, Giovanni G; Sartore-Bianchi, Andrea A; Lazzari, Luca L; Pietrantonio, Filippo F; Amatu, Alessio A; Macagno, Marco M; Barault, Ludovic L; Cassingena, Andrea A; Bartolini, Alice A; Luraghi, Paolo P; Mauri, Gianluca G; Battuello, Paolo P; Personeni, Nicola N; Zampino, Maria Giulia MG; Pessei, Valeria V; Vitiello, Pietro Paolo PP; Tosi, Federica F; Idotta, Laura L; Morano, Federica F; Valtorta, Emanuele E; Bonoldi, Emanuela E; Germano, Giovanni G; Di Nicolantonio, Federica F; Marsoni, Silvia S; Siena, Salvatore S; Bardelli, Alberto A

Publication Date: 2022-07-06

Variant appearance in text: MSH6: P399L

PubMed Link: 35522273

Variant Present in the following documents:

• 1656.pdf

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: MSH6: 1196C>T; P399L

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Neuro-Oncology Advances

Guerrini-Rousseau, Léa L; Varlet, Pascale P; Colas, Chrystelle C; Andreiuolo, Felipe F; Bourdeaut, Franck F; Dahan, Karin K; Devalck, Christine C; Faure-Conter, Cécile C; Genuardi, Maurizio M; Goldberg, Yael Y; Kuhlen, Michaela M; Moalla, Salma S; Opocher, Enrico E; Perez-Alonso, Vanessa V; Sehested, Astrid A; Slavc, Irene I; Unger, Sheila S; Wimmer, Katharina K; Grill, Jacques J; Brugières, Laurence L

Publication Date: 2019

Variant appearance in text: MSH6: 1196C>T; Pro399Leu

PubMed Link: 32642664

Variant Present in the following documents:

• Main text
• vdz033.pdf

View BVdb publication page

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DNA demethylation is associated with malignant progression of lower-grade gliomas.

Scientific Reports

Nomura, Masashi M; Saito, Kuniaki K; Aihara, Koki K; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Otani, Ryohei R; Nejo, Takahide T; Hana, Taijun T; Takahashi, Satoshi S; Kitagawa, Yosuke Y; Omata, Mayu M; Higuchi, Fumi F; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Nishikawa, Ryo R; Ueki, Keisuke K; Saito, Nobuhito N; Aburatani, Hiroyuki H; Mukasa, Akitake A

Publication Date: 2019-02-13

Variant appearance in text: MSH6: P399L

PubMed Link: 30760837

Variant Present in the following documents:

• 41598_2019_38510_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: MSH6: P399L

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 13

View BVdb publication page

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