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: 1203dup; Gln402fs; rs63750586

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: 1203dup; Gln402fs

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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InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: MSH2: 1203dupA; Q402Tfs*15

PubMed Link: 36260238

Variant Present in the following documents:

• 10689_2022_Article_312.pdf

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Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Cancer Biology & Medicine

Li, Yan Y; Fan, Lihong L; Zheng, Jianming J; Nie, Xiu X; Sun, Yu Y; Feng, Qin Q; Lian, Shenyi S; Bai, Wenqi W; Cai, Weijing W; Yang, Yanan Y; Su, Bo B; Xi, Yanfeng Y; Lin, Dongmei D

Publication Date: 2022-06-01

Variant appearance in text: MSH2: 1203dupA; Q402Tfs*15

PubMed Link: 35638907

Variant Present in the following documents:

• cbm-19-1235-s001.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: 1203dupA; Q402fs

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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Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.

Gynecologic Oncology

Hampel, Heather H; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC; Zhao, Weiqiang W; Jones, Dan D; Yilmaz, Ahmet A; Chen, Wei W; Frankel, Wendy L WL; Suarez, Adrian A AA; Cosgrove, Casey C; Backes, Floor F; Copeland, Larry L; Fowler, Jeffrey J; O'Malley, David D; Salani, Ritu R; McElroy, Joseph P JP; Stanich, Peter P PP; Goodfellow, Paul P; Cohn, David E DE

Publication Date: 2021-01

Variant appearance in text: MSH2: 1203dupA

PubMed Link: 33393477

Variant Present in the following documents:

• Main text

View BVdb publication page

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High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.

Npj Genomic Medicine

Bertelsen, Birgitte B; Tuxen, Ida Viller IV; Yde, Christina Westmose CW; Gabrielaite, Migle M; Torp, Mathias Husted MH; Kinalis, Savvas S; Oestrup, Olga O; Rohrberg, Kristoffer K; Spangaard, Iben I; Santoni-Rugiu, Eric E; Wadt, Karin K; Mau-Sorensen, Morten M; Lassen, Ulrik U; Nielsen, Finn Cilius FC

Publication Date: 2019

Variant appearance in text: MSH2: 1203dup; Gln402Thrfs*15

PubMed Link: 31263571

Variant Present in the following documents:

• 41525_2019_87_MOESM1_ESM.pdf

View BVdb publication page

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Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

Oncotarget

Jóri, Balazs B; Kamps, Rick R; Xanthoulea, Sofia S; Delvoux, Bert B; Blok, Marinus J MJ; Van de Vijver, Koen K KK; de Koning, Bart B; Oei, Felicia Trups FT; Tops, Carli M CM; Speel, Ernst Jm EJ; Kruitwagen, Roy F RF; Gomez-Garcia, Encarna B EB; Romano, Andrea A

Publication Date: 2015-12-01

Variant appearance in text: MSH2: 1203dup; Gln402Thrfs*15

PubMed Link: 26517685

Variant Present in the following documents:

• Main text
• oncotarget-06-41108.pdf

View BVdb publication page

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Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Gastroenterology

Haraldsdottir, Sigurdis S; Hampel, Heather H; Tomsic, Jerneja J; Frankel, Wendy L WL; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC

Publication Date: 2014-12

Variant appearance in text: MSH2: 1203dupA

PubMed Link: 25194673

Variant Present in the following documents:

• Main text

View BVdb publication page

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Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

Journal Of Medical Genetics

van der Post, R S RS; Kiemeney, L A LA; Ligtenberg, M J L MJ; Witjes, J A JA; Hulsbergen-van de Kaa, C A CA; Bodmer, D D; Schaap, L L; Kets, C M CM; van Krieken, J H J M JH; Hoogerbrugge, N N

Publication Date: 2010-07

Variant appearance in text: MSH2: 1203dup; Gln402fs

PubMed Link: 20591884

Variant Present in the following documents:

• Main text
• jmedgenet76992.pdf

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Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

British Journal Of Cancer

Overbeek, L I H LI; Kets, C M CM; Hebeda, K M KM; Bodmer, D D; van der Looij, E E; Willems, R R; Goossens, M M; Arts, N N; Brunner, H G HG; van Krieken, J H J M JH; Hoogerbrugge, N N; Ligtenberg, M J L MJ

Publication Date: 2007-05-21

Variant appearance in text: MSH2: 1203dup; Gln402fs

PubMed Link: 17453009

Variant Present in the following documents:

• Main text
• 6603754a.pdf

View BVdb publication page

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