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

Jean Pascal Demba Diop; Rokhaya Ndiaye Diallo; Violaine Bourdon-Huguenin; Ahmadou Dem; Doudou Diouf; Mamadou Moustapha Dieng; Seydi Abdoul Ba; Yacouba Dia; Sidy Ka; Babacar Mbengue; Alassane Thiam; Oumar Faye; Papa Amadou Diop; Hagay Sobol; Alioune Dieye

doi:10.1186/s12881-019-0814-y

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

Jean Pascal Demba Diop, Rokhaya Ndiaye Diallo, Violaine Bourdon-Huguenin, Ahmadou Dem, Doudou Diouf, Mamadou Moustapha Dieng, Seydi Abdoul Ba, Yacouba Dia, Sidy Ka, Babacar Mbengue, Alassane Thiam, Oumar Faye, Papa Amadou Diop, Hagay Sobol, Alioune Dieye

Research output: Contribution to journal › Article › peer-review

Original language	English
Article number	73
Journal	BMC Medical Genetics
Volume	20
Issue number	1
DOIs	https://doi.org/10.1186/s12881-019-0814-y
State	Published - May 6 2019
Externally published	Yes

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

BRCA2 gene
Hereditary breast cancer
Susceptibility

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10.1186/s12881-019-0814-y

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Diop, J. P. D., Diallo, R. N., Bourdon-Huguenin, V., Dem, A., Diouf, D., Dieng, M. M., Ba, S. A., Dia, Y., Ka, S., Mbengue, B., Thiam, A., Faye, O., Diop, P. A., Sobol, H., & Dieye, A. (2019). Novel BRCA2 pathogenic variant c.5219 T > G; P.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer. BMC Medical Genetics, 20(1), Article 73. https://doi.org/10.1186/s12881-019-0814-y

Diop, JPD, Diallo, RN, Bourdon-Huguenin, V, Dem, A, Diouf, D, Dieng, MM, Ba, SA, Dia, Y, Ka, S, Mbengue, B, Thiam, A, Faye, O, Diop, PA, Sobol, H & Dieye, A 2019, 'Novel BRCA2 pathogenic variant c.5219 T > G; P.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer', BMC Medical Genetics, vol. 20, no. 1, 73. https://doi.org/10.1186/s12881-019-0814-y

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keywords = "BRCA2 gene, Hereditary breast cancer, Susceptibility",

author = "Diop, {Jean Pascal Demba} and Diallo, {Rokhaya Ndiaye} and Violaine Bourdon-Huguenin and Ahmadou Dem and Doudou Diouf and Dieng, {Mamadou Moustapha} and Ba, {Seydi Abdoul} and Yacouba Dia and Sidy Ka and Babacar Mbengue and Alassane Thiam and Oumar Faye and Diop, {Papa Amadou} and Hagay Sobol and Alioune Dieye",

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doi = "10.1186/s12881-019-0814-y",

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AU - Diop, Jean Pascal Demba

AU - Diallo, Rokhaya Ndiaye

AU - Bourdon-Huguenin, Violaine

AU - Dem, Ahmadou

AU - Diouf, Doudou

AU - Dieng, Mamadou Moustapha

AU - Ba, Seydi Abdoul

AU - Dia, Yacouba

AU - Ka, Sidy

AU - Mbengue, Babacar

AU - Thiam, Alassane

AU - Faye, Oumar

AU - Diop, Papa Amadou

AU - Sobol, Hagay

AU - Dieye, Alioune

PY - 2019/5/6

Y1 - 2019/5/6

KW - BRCA2 gene

KW - Hereditary breast cancer

KW - Susceptibility

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

ASJC Scopus Subject Areas

Keywords

Access to Document

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