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: 3835del; Ala1279fs; rs1060505047

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.

Molecular Genetics & Genomic Medicine

Abdel-Razeq, Hikmat H; Al-Azzam, Khansa K; Elemian, Shatha S; Abu-Fares, Hala H; Abu Sheikha, Areej A; Bani Hani, Hira H; Bater, Rayan R; Sharaf, Baha' B; Heald, Brandie B; Esplin, Edward D ED; Nielsen, Sarah M SM; Alkyam, Mais M; Abujamous, Lama L; Al-Attary, Areej A

Publication Date: 2022-12-19

Variant appearance in text: BRCA1: 3835del; Ala1279Hisfs*28

PubMed Link: 36537080

Variant Present in the following documents:

• Main text
• MGG3-11-e2125.pdf

View BVdb publication page

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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 3835del; Ala1279Hisfs*28; rs1060505047

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s011.xlsx, sheet 1

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Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.

Scientific Reports

Abdel-Razeq, Hikmat H; Abujamous, Lama L; Abunasser, Mahmoud M; Edaily, Sara S; Bater, Rayan R

Publication Date: 2021-07-21

Variant appearance in text: BRCA1: 3835del; Ala1279Hisfs

PubMed Link: 34290354

Variant Present in the following documents:

• Main text
• 41598_2021_Article_94403.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: 3835delG; Ala1279Hisfs

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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3,3-Diindolylmethane (DIM): a nutritional intervention and its impact on breast density in healthy BRCA carriers. A prospective clinical trial.

Carcinogenesis

Yerushalmi, Rinat R; Bargil, Sharon S; Ber, Yaara Y; Ozlavo, Rachel R; Sivan, Tuval T; Rapson, Yael Y; Pomerantz, Adi A; Tsoref, Daliah D; Sharon, Eran E; Caspi, Opher O; Grubsrein, Ahuvah A; Margel, David D

Publication Date: 2020-10-15

Variant appearance in text: BRCA1: 3835delG

PubMed Link: 32458980

Variant Present in the following documents:

• Main text
• bgaa050.pdf

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: 3835_3835delG

PubMed Link: 32050665

Variant Present in the following documents:

• cancers-12-00410.pdf

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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: 3835_3835delG

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: 3835del; Ala1279Hisfs*28

PubMed Link: 29339979

Variant Present in the following documents:

• Main text
• 13053_2017_Article_85.pdf

View BVdb publication page

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