Publications:

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Increased prevalence of the founder BRCA1 c.5309G>T and recurrent BRCA2 c.1310_1313delAAGA mutations in breast cancer families from Northerstern region of Morocco: evidence of geographical specificity and high relevance for genetic counseling.

Bmc Cancer

Melki, Rahma R; Melloul, Marouane M; Aissaoui, Souria S; El Harroudi, Tijani T; Boukhatem, Noureddine N

Publication Date: 2023-04-13

Variant appearance in text: BRCA2: 3381delT

PubMed Link: 37055759

Variant Present in the following documents:

• Main text
• 12885_2023_Article_10822.pdf

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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: BRCA2: 3381del; Phe1127fs

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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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: BRCA2: 3381del; Phe1127fs

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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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: BRCA2: 3381del; Phe1127Leufs

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s010.xlsx, sheet 5

View BVdb publication page

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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: BRCA2: 3381delT; Phe1127Leufs

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: BRCA2: 3381delT; Phe1127Leufs

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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Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).

Bmc Cancer

El Ansari, Fatima Zahra FZ; Jouali, Farah F; Marchoudi, Nabila N; Bennani, Mohcine Mechita MM; Ghailani, Naima Nourouti NN; Barakat, Amina A; Fekkak, Jamal J

Publication Date: 2020-08-10

Variant appearance in text: BRCA2: 3381delT; Phe1127Leufs

PubMed Link: 32778078

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7250.pdf

View BVdb publication page

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Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Cancers

Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E

Publication Date: 2020-05-19

Variant appearance in text: BRCA2: 3381delT

PubMed Link: 32438681

Variant Present in the following documents:

• Main text
• cancers-12-01286.pdf

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Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.

Bmc Medical Genetics

Diop, Jean Pascal Demba JPD; Diallo, Rokhaya Ndiaye RN; Bourdon-Huguenin, Violaine V; Dem, Ahmadou A; Diouf, Doudou D; Dieng, Mamadou Moustapha MM; Ba, Seydi Abdoul SA; Dia, Yacouba Y; Ka, Sidy S; Mbengue, Babacar B; Thiam, Alassane A; Faye, Oumar O; Diop, Papa Amadou PA; Sobol, Hagay H; Dieye, Alioune A

Publication Date: 2019-05-06

Variant appearance in text: BRCA2: 3381delT; Phe1127Leufs

PubMed Link: 31060517

Variant Present in the following documents:

• Main text
• 12881_2019_Article_814.pdf

View BVdb publication page

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Genetics of breast cancer in African populations: a literature review.

Global Health, Epidemiology And Genomics

Abbad, A A; Baba, H H; Dehbi, H H; Elmessaoudi-Idrissi, M M; Elyazghi, Z Z; Abidi, O O; Radouani, F F

Publication Date: 2018

Variant appearance in text: BRCA2: 3381delT

PubMed Link: 30263132

Variant Present in the following documents:

• Main text
• S2054420018000088a.pdf

View BVdb publication page

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Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.

Bmc Medical Genetics

Elimam, Alsmawal A AA; Aabdein, Mohamed Elmogtba Mouaweia Mohamed MEMM; Eldeen, Mohamed El-Fatih Moly MEM; Altayb, Hisham N HN; Taha, Mohamed Adel MA; Nimir, Mohammed N MN; Dafaalla, Mohamed D MD; Alfaki, Musaab M MM; Abdelrahim, Mohamed A MA; Abdalla, Abdelmohaymin A AA; Mohammed, Musab I MI; Ellaithi, Mona M; Hamid, Muzamil Mahdi Abdel MMA; Hassan, Mohamed Ahmed Salih MAS

Publication Date: 2017-08-16

Variant appearance in text: BRCA2: 3381delT

PubMed Link: 28814288

Variant Present in the following documents:

• Main text
• 12881_2017_Article_448.pdf

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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: BRCA2: 3381delT; Phe1127Leufs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Clinical and pathological features of BRCA1/2 tumors in a sample of high-risk Moroccan breast cancer patients.

Bmc Research Notes

Jouhadi, Hassan H; Tazzite, Amal A; Azeddoug, Houssine H; Naim, Asmâa A; Nadifi, Sellama S; Benider, Abdellatif A

Publication Date: 2016-04-29

Variant appearance in text: BRCA2: 3381delT

PubMed Link: 27129401

Variant Present in the following documents:

• Main text

View BVdb publication page

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Arab gene geography: From population diversities to personalized medical genomics.

Global Cardiology Science & Practice

Tadmouri, Ghazi O GO; Sastry, Konduru S KS; Chouchane, Lotfi L

Publication Date: 2014

Variant appearance in text: BRCA2: 3381delT

PubMed Link: 25780794

Variant Present in the following documents:

• Main text
• gcsp-2014-054.pdf

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A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Biomed Research International

Karami, Fatemeh F; Mehdipour, Parvin P

Publication Date: 2013

Variant appearance in text: BRCA2: 3381delT

PubMed Link: 24312913

Variant Present in the following documents:

• Main text
• BMRI2013-928562.pdf

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Effect of the novel Moroccan BRCA1 and BRCA2 frameshift mutations.

Indian Journal Of Human Genetics

Tazzite, Amal A; Jouhadi, Hassan H; Hamzi, Khalil K; Benider, Abdellatif A; Nadifi, Sellama S

Publication Date: 2013-04

Variant appearance in text: BRCA2: 3381delT

PubMed Link: 24019637

Variant Present in the following documents:

• Main text

View BVdb publication page

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