BRCA2 c.68_69del ;(p.D23Vfs*7)

Variant ID: 13-32893214-GAT-G

NM_000059.3(BRCA2):c.68_69del;(p.D23Vfs*7)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


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: 68_69del
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s005.xlsx, sheet 3
  • IJC-152-1159-s001.xlsx, sheet 1
View BVdb publication page



Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?

International Journal Of Oncology
Lavoro, Alessandro A; Scalisi, Aurora A; Candido, Saverio S; Zanghì, Guido Nicola GN; Rizzo, Roberta R; Gattuso, Giuseppe G; Caruso, Giuseppe G; Libra, Massimo M; Falzone, Luca L
Publication Date: 2022-05

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 35383859
Variant Present in the following documents:
  • ijo-60-05-05349.pdf
View BVdb publication page



Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.

Bmc Cancer
Agha, Naela N; Alshamsan, Bader B; Al-Farsi, Sharifa S; Ateya, Heba Aly HA; Almugbel, Fahad A FA; Alotaibi, Hazem Abdullah HA; Omar, Ayman A; Mohamed, Amgad Shahin AS; Alharthy, Hanan H; Elhassan, Tusneem T; Salem, Hany H; Alhusaini, Hamed H
Publication Date: 2022-01-03

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 34980015
Variant Present in the following documents:
  • 12885_2021_Article_9123.pdf
View BVdb publication page



Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.

Bmc Cancer
Agha, Naela N; Alshamsan, Bader B; Al-Farsi, Sharifa S; Ateya, Heba Aly HA; Almugbel, Fahad A FA; Alotaibi, Hazem Abdullah HA; Omar, Ayman A; Mohamed, Amgad Shahin AS; Alharthy, Hanan H; Elhassan, Tusneem T; Salem, Hany H; Alhusaini, Hamed H
Publication Date: 2022-01-03

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 34980015
Variant Present in the following documents:
  • 12885_2021_Article_9123.pdf
View BVdb publication page



Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.

Cancer Research And Treatment
Bang, Yoon Ju YJ; Kwon, Won Kyung WK; Nam, Seok Jin SJ; Kim, Seok Won SW; Chae, Byung-Joo BJ; Lee, Se Kyung SK; Ryu, Jai Min JM; Kim, Jong-Won JW; Yu, Jonghan J; Lee, Jeong Eon JE
Publication Date: 2022-07

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 34645131
Variant Present in the following documents:
  • Main text
  • crt-2021-791.pdf
View BVdb publication page



Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study.

Jco Global Oncology
Gupta, Sudeep S; Rajappa, Senthil S; Advani, Suresh S; Agarwal, Amit A; Aggarwal, Shyam S; Goswami, Chanchal C; Palanki, Satya Dattatreya SD; Arya, Devavrat D; Patil, Shekhar S; Kodagali, Rohit R
Publication Date: 2021-06

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 34101484
Variant Present in the following documents:
  • go-7-go.21.00051.pdf
View BVdb publication page



Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.

Cancers
Solano, Angela R AR; Mele, Pablo G PG; Jalil, Fernanda S FS; Liria, Natalia C NC; Podesta, Ernesto J EJ; Gutiérrez, Leandro G LG
Publication Date: 2021-05-31

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 34072659
Variant Present in the following documents:
  • Main text
  • cancers-13-02711.pdf
View BVdb publication page



Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Genetics Research
Nguyen-Dumont, Tu T; Karpinski, Pawel P; Sasiadek, Maria M MM; Akopyan, Hayane H; Steen, Jason A JA; Theys, Derrick D; Hammet, Fleur F; Tsimiklis, Helen H; Park, Daniel J DJ; Pope, Bernard J BJ; Slezak, Ryszard R; Stembalska, Agnieszka A; Pesz, Karolina K; Kitsera, Nataliya N; Siekierzynska, Aleksandra A; Southey, Melissa C MC; Myszka, Aleksander A
Publication Date: 2020-08-10

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 32772980
Variant Present in the following documents:
  • S0016672320000075sup001.pdf
View BVdb publication page



Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis.

Journal Of Oncology
Mikhaylenko, Dmitry S DS; Tanas, Alexander S AS; Zaletaev, Dmitry V DV; Nemtsova, Marina V MV
Publication Date: 2020

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 32612654
Variant Present in the following documents:
  • JO2020-7363102.pdf
View BVdb publication page



Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

Scientific Reports
De Talhouet, Solene S; Peron, Julien J; Vuilleumier, Aurelie A; Friedlaender, Alex A; Viassolo, Valeria V; Ayme, Aurélie A; Bodmer, Alexandre A; Treilleux, Isabelle I; Lang, Noemie N; Tille, Jean- Christophe JC; Chappuis, Pierre O PO; Buisson, Adrien A; Giraud, Sophie S; Lasset, Christine C; Bonadona, Valerie V; Trédan, Olivier O; Labidi-Galy, S Intidhar SI
Publication Date: 2020-04-27

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 32341426
Variant Present in the following documents:
  • 41598_2020_63759_MOESM1_ESM.pdf
View BVdb publication page



Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil.

Jco Global Oncology
Achatz, Maria Isabel MI; Caleffi, Maira M; Guindalini, Rodrigo R; Marques, Renato Moretti RM; Nogueira-Rodrigues, Angelica A; Ashton-Prolla, Patricia P
Publication Date: 2020-03

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 32155091
Variant Present in the following documents:
  • JGO.19.00170.pdf
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s007.xlsx, sheet 2
View BVdb publication page



Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Cancers
Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M
Publication Date: 2018-11-14

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 30441849
Variant Present in the following documents:
  • Main text
  • cancers-10-00442.pdf
View BVdb publication page



Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.

European Journal Of Human Genetics : Ejhg
Tarabeux, Julien J; Zeitouni, Bruno B; Moncoutier, Virginie V; Tenreiro, Henrique H; Abidallah, Khadija K; Lair, Séverine S; Legoix-Né, Patricia P; Leroy, Quentin Q; Rouleau, Etienne E; Golmard, Lisa L; Barillot, Emmanuel E; Stern, Marc-Henri MH; Rio-Frio, Thomas T; Stoppa-Lyonnet, Dominique D; Houdayer, Claude C
Publication Date: 2014-04

Variant appearance in text: BRCA2: 68_69del
PubMed Link: 23942203
Variant Present in the following documents:
  • Main text
View BVdb publication page