Publications:

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Biomedicines

Cătană, Andreea A; Trifa, Adrian P AP; Achimas-Cadariu, Patriciu A PA; Bolba-Morar, Gabriela G; Lisencu, Carmen C; Kutasi, Eniko E; Chelaru, Vlad F VF; Muntean, Maximilian M; Martin, Daniela L DL; Antone, Nicoleta Z NZ; Fetica, Bogdan B; Pop, Florina F; Militaru, Mariela S MS

Publication Date: 2023-05-08

Variant appearance in text: BARD1: 632T>A; Leu211Ter

PubMed Link: 37239058

Variant Present in the following documents:

• biomedicines-11-01386.pdf

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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: BARD1: 632T>A; Leu211Ter

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.

Genes

Watters, Andrea K AK; Seltzer, Emily S ES; MacKenzie, Danny D; Young, Melody M; Muratori, Jonathan J; Hussein, Rama R; Sodoma, Andrej M AM; To, Julie J; Singh, Manrose M; Zhang, Dong D

Publication Date: 2020-07-21

Variant appearance in text: BARD1: 632T>A; Leu211*

PubMed Link: 32708251

Variant Present in the following documents:

• Main text
• genes-11-00829-s001.pdf
• genes-11-00829.pdf

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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: BARD1: 632T>A; Leu211Ter

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM3_ESM.xlsx, sheet 1

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Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Chaffee, Kari G KG; Oberg, Ann L AL; McWilliams, Robert R RR; Majithia, Neil N; Allen, Brian A BA; Kidd, John J; Singh, Nanda N; Hartman, Anne-Renee AR; Wenstrup, Richard J RJ; Petersen, Gloria M GM

Publication Date: 2018-01

Variant appearance in text: BARD1: 632T>A; Leu211*

PubMed Link: 28726808

Variant Present in the following documents:

• Main text
• nihms885107.pdf

View BVdb publication page