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: 4094del; L1365*; rs397509138

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: BRCA1: 4094del; Leu1365Ter

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA1: 4094del

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

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: 4094del; Leu1365*; rs397509138

PubMed Link: 36385461

Variant Present in the following documents:

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

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Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer

ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y

Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 4094delT; Leu1365Terfs

PubMed Link: 35216584

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9181.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: 4094delT; Leu1365Terfs; rs397509138

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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Mutations in context: implications of BRCA testing in diverse populations.

Familial Cancer

Felix, Gabriela E S GES; Zheng, Yonglan Y; Olopade, Olufunmilayo I OI

Publication Date: 2018-10

Variant appearance in text: BRCA1: 4094delT

PubMed Link: 28918466

Variant Present in the following documents:

• Main text

View BVdb publication page

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