Publications:

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Multi-omic features of oesophageal adenocarcinoma in patients treated with preoperative neoadjuvant therapy.

Nature Communications

M Naeini, Marjan M; Newell, Felicity F; Aoude, Lauren G LG; Bonazzi, Vanessa F VF; Patel, Kalpana K; Lampe, Guy G; Koufariotis, Lambros T LT; Lakis, Vanessa V; Addala, Venkateswar V; Kondrashova, Olga O; Johnston, Rebecca L RL; Sharma, Sowmya S; Brosda, Sandra S; Holmes, Oliver O; Leonard, Conrad C; Wood, Scott S; Xu, Qinying Q; Thomas, Janine J; Walpole, Euan E; Tao Mai, G G; Ackland, Stephen P SP; Martin, Jarad J; Burge, Matthew M; Finch, Robert R; Karapetis, Christos S CS; Shannon, Jenny J; Nott, Louise L; Bohmer, Robert R; Wilson, Kate K; Barnes, Elizabeth E; Zalcberg, John R JR; Mark Smithers, B B; Simes, John J; Price, Timothy T; Gebski, Val V; Nones, Katia K; Watson, David I DI; Pearson, John V JV; Barbour, Andrew P AP; Waddell, Nicola N

Publication Date: 2023-05-31

Variant appearance in text: MSH2: Gln324*

PubMed Link: 37258531

Variant Present in the following documents:

• Main text
• 41467_2023_Article_38891.pdf

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: MSH2: 970C>T; Q324*; rs63750502

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: MSH2: 970C>T; Gln324Ter

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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MR imaging phenotypes and features associated with pathogenic mutation to predict recurrence or metastasis in breast cancer.

Bmc Cancer

Shao, Zhenzhen Z; Yu, Jinpu J; Cheng, Yanan Y; Ma, Wenjuan W; Liu, Peifang P; Lu, Hong H

Publication Date: 2023-01-27

Variant appearance in text: MSH2: 970C>T

PubMed Link: 36707770

Variant Present in the following documents:

• 12885_2023_Article_10555.pdf

View BVdb publication page

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Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial Cancer

Aziz, Shahram S; O'Sullivan, Hazel H; Heelan, Kara K; Alam, Afrina A; McVeigh, Terri P TP

Publication Date: 2022-11-23

Variant appearance in text: MSH2: 970C>T; Gln324Ter

PubMed Link: 36418753

Variant Present in the following documents:

• 10689_2022_319_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Potential Targeted Therapies in Ovarian Cancer.

Pharmaceuticals (Basel, Switzerland)

Sisman, Yagmur Y; Vestergaard, Lau Kræsing LK; de Oliveira, Douglas Nogueira Perez DNP; Poulsen, Tim Svenstrup TS; Schnack, Tine Henrichsen TH; Høgdall, Claus C; Høgdall, Estrid E

Publication Date: 2022-10-26

Variant appearance in text: MSH2: Gln324Ter

PubMed Link: 36355495

Variant Present in the following documents:

• pharmaceuticals-15-01324.pdf

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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: MSH2: 970C>T; Q324X; rs63750502

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Characterization of Clonal Evolution in Microsatellite Unstable Metastatic Cancers through Multiregional Tumor Sequencing.

Molecular Cancer Research : Mcr

Bonneville, Russell R; Paruchuri, Anoosha A; Wing, Michele R MR; Krook, Melanie A MA; Reeser, Julie W JW; Chen, Hui-Zi HZ; Dao, Thuy T; Samorodnitsky, Eric E; Smith, Amy M AM; Yu, Lianbo L; Nowacki, Nicholas N; Chen, Wei W; Roychowdhury, Sameek S

Publication Date: 2021-03

Variant appearance in text: MSH2: Q324X

PubMed Link: 33229401

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia.

Cancers

Cuatrecasas, Míriam M; Gorostiaga, Iñigo I; Riera, Cristina C; Saperas, Esteban E; Llort, Gemma G; Costa, Irmgard I; Matias-Guiu, Xavier X; Carrato, Cristina C; Navarro, Matilde M; Pineda, Marta M; Dueñas, Núria N; Brunet, Joan J; Marco, Vicente V; Trias, Isabel I; Busteros, José Ignacio JI; Mateu, Gemma G; Balaguer, Francesc F; Fernández-Figueras, María-Teresa MT; Esteller, Manel M; Musulén, Eva E

Publication Date: 2020-09-29

Variant appearance in text: MSH2: 970C>T; Gln324*

PubMed Link: 33003511

Variant Present in the following documents:

• cancers-12-02803-s001.pdf

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: MSH2: 970C>T; Leu324Phe

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Mapping the breast cancer metastatic cascade onto ctDNA using genetic and epigenetic clonal tracking.

Nature Communications

Cresswell, George D GD; Nichol, Daniel D; Spiteri, Inmaculada I; Tari, Haider H; Zapata, Luis L; Heide, Timon T; Maley, Carlo C CC; Magnani, Luca L; Schiavon, Gaia G; Ashworth, Alan A; Barry, Peter P; Sottoriva, Andrea A

Publication Date: 2020-03-27

Variant appearance in text: MSH2: Q324*

PubMed Link: 32221288

Variant Present in the following documents:

• 41467_2020_Article_15047.pdf

View BVdb publication page

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Rare Tumor Clinic: The University of California San Diego Moores Cancer Center Experience with a Precision Therapy Approach.

The Oncologist

Kato, Shumei S; Kurasaki, Kellie K; Ikeda, Sadakatsu S; Kurzrock, Razelle R

Publication Date: 2018-02

Variant appearance in text: MSH2: Q324*

PubMed Link: 29038235

Variant Present in the following documents:

• supp_the2017-0199_onco12285-sup-0001-suppinfo01.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: MSH2: 970C>T; Gln324Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Exceptional Response to Nivolumab and Stereotactic Body Radiation Therapy (SBRT) in Neuroendocrine Cervical Carcinoma with High Tumor Mutational Burden: Management Considerations from the Center For Personalized Cancer Therapy at UC San Diego Moores Cancer Center.

The Oncologist

Sharabi, Andrew A; Kim, Sangwoo Shawn SS; Kato, Shumei S; Sanders, Philip D PD; Patel, Sandip Pravin SP; Sanghvi, Parag P; Weihe, Elizabeth E; Kurzrock, Razelle R

Publication Date: 2017-06

Variant appearance in text: MSH2: Q324*

PubMed Link: 28550027

Variant Present in the following documents:

• onco12168.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: MSH2: 970C>T; Gln324Ter

PubMed Link: 27329137

Variant Present in the following documents:

• ncomms11883-s1.pdf

View BVdb publication page

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Low-grade serous carcinomas of the ovary contain very few point mutations.

The Journal Of Pathology

Jones, Siân S; Wang, Tian-Li TL; Kurman, Robert J RJ; Nakayama, Kentaro K; Velculescu, Victor E VE; Vogelstein, Bert B; Kinzler, Kenneth W KW; Papadopoulos, Nickolas N; Shih, Ie-Ming IeM

Publication Date: 2012-02

Variant appearance in text: MSH2: 970C>T

PubMed Link: 22102435

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

Dna Repair

Kundu, Sucharita S; Brinkmeyer, Megan K MK; Livingston, Alison L AL; David, Sheila S SS

Publication Date: 2009-12-03

Variant appearance in text: MSH2: Q324X

PubMed Link: 19836313

Variant Present in the following documents:

• Main text

View BVdb publication page

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