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: 1287del; Ile429fs; rs1060505045

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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: 1287del

PubMed Link: 34981296

Variant Present in the following documents:

• Main text
• 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: 1287delA; Ile429Metfs

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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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: 1287_1287delA

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: 1287_1287delA

PubMed Link: 30678073

Variant Present in the following documents:

• Main text
• cancers-11-00132.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: 1287del; Ile429Metfs*12

PubMed Link: 29339979

Variant Present in the following documents:

• Main text
• 13053_2017_Article_85.pdf

View BVdb publication page

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