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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

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: BRCA1: 4357+2T>G

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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Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Cancers

Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M

Publication Date: 2018-11-14

Variant appearance in text: BRCA1: 4357+2T>G; rs80358152

PubMed Link: 30441849

Variant Present in the following documents:

• Main text
• cancers-10-00442.pdf

View BVdb publication page

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Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

The Lancet. Oncology

Copson, Ellen R ER; Maishman, Tom C TC; Tapper, Will J WJ; Cutress, Ramsey I RI; Greville-Heygate, Stephanie S; Altman, Douglas G DG; Eccles, Bryony B; Gerty, Sue S; Durcan, Lorraine T LT; Jones, Louise L; Evans, D Gareth DG; Thompson, Alastair M AM; Pharoah, Paul P; Easton, Douglas F DF; Dunning, Alison M AM; Hanby, Andrew A; Lakhani, Sunil S; Eeles, Ros R; Gilbert, Fiona J FJ; Hamed, Hisham H; Hodgson, Shirley S; Simmonds, Peter P; Stanton, Louise L; Eccles, Diana M DM

Publication Date: 2018-02

Variant appearance in text: BRCA1: 4357+2T>G

PubMed Link: 29337092

Variant Present in the following documents:

• mmc1.pdf

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Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.

Oncotarget

Ratajska, Magdalena M; Koczkowska, Magdalena M; Żuk, Monika M; Gorczyński, Adam A; Kuźniacka, Alina A; Stukan, Maciej M; Biernat, Wojciech W; Limon, Janusz J; Wasąg, Bartosz B

Publication Date: 2017-11-24

Variant appearance in text: BRCA1: 4357+2T>G; rs80358152

PubMed Link: 29254167

Variant Present in the following documents:

• Main text
• oncotarget-08-101325.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: BRCA1: 4357+2T>G

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.

Cancer Medicine

Koczkowska, Magdalena M; Zuk, Monika M; Gorczynski, Adam A; Ratajska, Magdalena M; Lewandowska, Marzena M; Biernat, Wojciech W; Limon, Janusz J; Wasag, Bartosz B

Publication Date: 2016-07

Variant appearance in text: BRCA1: 4357+2T>G

PubMed Link: 27167707

Variant Present in the following documents:

• Main text
• CAM4-5-1640.pdf
• CAM4-5-1640-s001.pdf

View BVdb publication page

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Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.

Journal Of Applied Genetics

Ratajska, Magdalena M; Krygier, Magdalena M; Stukan, Maciej M; Kuźniacka, Alina A; Koczkowska, Magdalena M; Dudziak, Mirosław M; Śniadecki, Marcin M; Dębniak, Jarosław J; Wydra, Dariusz D; Brozek, Izabela I; Biernat, Wojciech W; Borg, Ake A; Limon, Janusz J; Wasąg, Bartosz B

Publication Date: 2015-05

Variant appearance in text: BRCA1: 4357+2T>G

PubMed Link: 25366421

Variant Present in the following documents:

• Main text
• 13353_2014_Article_254.pdf

View BVdb publication page

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