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: MSH2: 229_230del; Ser77fs

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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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: 229_230delAG

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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Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.

Frontiers In Oncology

Liu, Jiaying J; Chang, Xiaona X; Xiao, Guixiang G; Zhong, Jingmin J; Huang, Bo B; Zhang, Jiwei J; Gao, Beibei B; Peng, Gang G; Nie, Xiu X

Publication Date: 2022

Variant appearance in text: MSH2: 229_230delAG; Ser77Cysfs*4

PubMed Link: 36457512

Variant Present in the following documents:

• Main text
• fonc-12-1014859.pdf

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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: 229_230del; Ser77fs

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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Lynch Syndrome Identification in Saudi Cohort of Endometrial Cancer Patients Screened by Universal Approach.

International Journal Of Molecular Sciences

Bu, Rong R; Siraj, Abdul K AK; Parvathareddy, Sandeep Kumar SK; Iqbal, Kaleem K; Azam, Saud S; Qadri, Zeeshan Z; Al-Rasheed, Maha M; Haqawi, Wael W; Diaz, Mark M; Alobaisi, Khadija K; Annaiyappanaidu, Padmanaban P; Siraj, Nabil N; AlHusaini, Hamed H; Alomar, Osama O; Al-Badawi, Ismail A IA; Al-Dayel, Fouad F; Al-Kuraya, Khawla S KS

Publication Date: 2022-10-14

Variant appearance in text: MSH2: 229_230del; S77fs

PubMed Link: 36293153

Variant Present in the following documents:

• Main text
• ijms-23-12299.pdf

View BVdb publication page

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InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: MSH2: 229_230del; S77Cfs*4

PubMed Link: 36260238

Variant Present in the following documents:

• 10689_2022_Article_312.pdf

View BVdb publication page

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Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.

Cancer Biology & Medicine

Yao, Jianfei J; Zhen, Yunhuan Y; Fan, Jing J; Gong, Yuan Y; Ye, Yumeng Y; Guo, Shaohua S; Liu, Hongyi H; Li, Xiaoyun X; Li, Guosheng G; Yang, Pan P; Wang, Xiaohui X; Liu, Danni D; Huang, Tanxiao T; Cao, Huiya H; Suo, Peisu P; Li, Yuemin Y; Yu, Jingbo J; Song, Lele L

Publication Date: 2022-01-12

Variant appearance in text: MSH2: 227_228del

PubMed Link: 35014770

Variant Present in the following documents:

• Main text
• cbm-19-707.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: 229_230delAG; S77fs

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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Case Report: A Frameshift Mutation in MSH2 Exon 2 in a Kidney Recipient With Muir-Torre Syndrome.

Frontiers In Oncology

Feng, Yifei Y; Feng, Jianqing J; Bao, Jianrong J

Publication Date: 2021

Variant appearance in text: MSH2: 229_230delAG; S77Cfs*4

PubMed Link: 34249727

Variant Present in the following documents:

• Main text
• fonc-11-681780.pdf

View BVdb publication page

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Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

Cancers

de Angelis de Carvalho, Nathália N; Niitsuma, Bianca Naomi BN; Kozak, Vanessa Nascimento VN; Costa, Felipe D'almeida FD; de Macedo, Mariana Petaccia MP; Kupper, Bruna Elisa Catin BEC; Silva, Maria Letícia Gobo MLG; Formiga, Maria Nirvana MN; Volc, Sahlua Miguel SM; Aguiar Junior, Samuel S; Palmero, Edenir Inez EI; Casali-da-Rocha, José Cláudio JC; Carraro, Dirce Maria DM; Torrezan, Giovana Tardin GT

Publication Date: 2020-07-09

Variant appearance in text: MSH2: 229_230delAG; Ser77Cysfs*4

PubMed Link: 32659967

Variant Present in the following documents:

• Main text
• cancers-12-01848.pdf

View BVdb publication page

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Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Cancer Research And Treatment

Shin, Hee-Chul HC; Lee, Han-Byoel HB; Yoo, Tae-Kyung TK; Lee, Eun-Shin ES; Kim, Ryong Nam RN; Park, Boyoung B; Yoon, Kyong-Ah KA; Park, Charny C; Lee, Eun Sook ES; Moon, Hyeong-Gon HG; Noh, Dong-Young DY; Kong, Sun-Young SY; Han, Wonshik W

Publication Date: 2020-07

Variant appearance in text: MSH2: 229_230del; Ser77Cysfs*4

PubMed Link: 32019277

Variant Present in the following documents:

• Main text
• crt-2019-559.pdf

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A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Bmc Cancer

Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M

Publication Date: 2017-09-05

Variant appearance in text: MSH2: 229_230delAG; Ser77Cysfs*4

PubMed Link: 28874130

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3599.pdf

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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: 229_230delAG; Ser77Cysfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Goodfellow, Paul J PJ; Billingsley, Caroline C CC; Lankes, Heather A HA; Ali, Shamshad S; Cohn, David E DE; Broaddus, Russell J RJ; Ramirez, Nilsa N; Pritchard, Colin C CC; Hampel, Heather H; Chassen, Alexis S AS; Simmons, Luke V LV; Schmidt, Amy P AP; Gao, Feng F; Brinton, Louise A LA; Backes, Floor F; Landrum, Lisa M LM; Geller, Melissa A MA; DiSilvestro, Paul A PA; Pearl, Michael L ML; Lele, Shashikant B SB; Powell, Matthew A MA; Zaino, Richard J RJ; Mutch, David D

Publication Date: 2015-12-20

Variant appearance in text: MSH2: 229_230delAG; S77Cfs

PubMed Link: 26552419

Variant Present in the following documents:

• Main text
• zlj4301.pdf

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Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Journal Of Medical Genetics

Sjursen, Wenche W; Haukanes, Bjørn Ivar BI; Grindedal, Eli Marie EM; Aarset, Harald H; Stormorken, Astrid A; Engebretsen, Lars F LF; Jonsrud, Christoffer C; Bjørnevoll, Inga I; Andresen, Per Arne PA; Ariansen, Sarah S; Lavik, Liss Anne S LA; Gilde, Bodil B; Bowitz-Lothe, Inger Marie IM; Maehle, Lovise L; Møller, Pål P

Publication Date: 2010-09

Variant appearance in text: MSH2: 229_230delAG

PubMed Link: 20587412

Variant Present in the following documents:

• Main text
• jmedgenet77677.pdf

View BVdb publication page

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