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: BRCA1: 5047G>T; Glu1683Ter; rs80356879

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: BRCA1: 5047G>T; Glu1683Ter

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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BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.

Familial Cancer

Hovland, Henrikke N HN; Al-Adhami, Rafal R; Ariansen, Sarah Louise SL; Van Ghelue, Marijke M; Sjursen, Wenche W; Lima, Sigrid S; Bolstad, Marte M; Berger, Amund H AH; Høberg-Vetti, Hildegunn H; Knappskog, Per P; Haukanes, Bjørn Ivar BI; Aukrust, Ingvild I; Ognedal, Elisabet E

Publication Date: 2022-10

Variant appearance in text: BRCA1: 5047G>T

PubMed Link: 34981296

Variant Present in the following documents:

• 10689_2021_Article_286.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: BRCA1: 5047G>T; Glu1683Ter; rs80356879

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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Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA1: 5047G>T; Glu1683X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Correction: Møller, P.; et al. Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift. Cancers 2019, 11, 132.

Cancers

Møller, Pål P; Dominguez-Valentin, Mev M; Rødland, Einar Andreas EA; Hovig, Eivind E

Publication Date: 2020-02-10

Variant appearance in text: BRCA1: 5047G>T

PubMed Link: 32050665

Variant Present in the following documents:

• cancers-12-00410.pdf

View BVdb publication page

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Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift.

Cancers

Møller, Pål P; Dominguez-Valentin, Mev M; Rødland, Einar Andreas EA; Hovig, Eivind E

Publication Date: 2019-01-23

Variant appearance in text: BRCA1: 5047G>T

PubMed Link: 30678073

Variant Present in the following documents:

• Main text
• cancers-11-00132.pdf

View BVdb publication page

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5047G>T; E1683*

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

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Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Hereditary Cancer In Clinical Practice

Dominguez-Valentin, Mev M; Evans, D Gareth R DGR; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E

Publication Date: 2018

Variant appearance in text: BRCA1: 5047G>T; Glu1683Ter

PubMed Link: 29371908

Variant Present in the following documents:

• Main text
• 13053_2018_Article_86.pdf

View BVdb publication page

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BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.

Hereditary Cancer In Clinical Practice

Heramb, Cecilie C; Wangensteen, Teresia T; Grindedal, Eli Marie EM; Ariansen, Sarah Louise SL; Lothe, Sheba S; Heimdal, Ketil Riddervold KR; Mæhle, Lovise L

Publication Date: 2018

Variant appearance in text: BRCA1: 5047G>T; Glu1683*

PubMed Link: 29339979

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.

Bmc Cancer

Grindedal, Eli Marie EM; Heramb, Cecilie C; Karsrud, Inga I; Ariansen, Sarah Louise SL; Mæhle, Lovise L; Undlien, Dag Erik DE; Norum, Jan J; Schlichting, Ellen E

Publication Date: 2017-06-21

Variant appearance in text: BRCA1: 5047G>T

PubMed Link: 28637432

Variant Present in the following documents:

• 12885_2017_Article_3422.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: 5047G>T; Glu1683Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Bmc Pharmacology & Toxicology

Nichols, Anthony C AC; Black, Morgan M; Yoo, John J; Pinto, Nicole N; Fernandes, Andrew A; Haibe-Kains, Benjamin B; Boutros, Paul C PC; Barrett, John W JW

Publication Date: 2014-11-27

Variant appearance in text: rs80356879

PubMed Link: 25428177

Variant Present in the following documents:

• 40360_2014_350_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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