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HR c.68_69del ;(p.I23Sfs*102)
Variant ID: 8-21986615-CGA-C
NM_005144.4(
HR
):c.68_69del;(p.I23Sfs*102)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Value of the loss of heterozygosity to BRCA1 variant classification.
Npj Breast Cancer
Santana Dos Santos, Elizabeth E; Spurdle, Amanda B AB; Carraro, Dirce M DM; Briaux, Adrien A; Southey, Melissa M; Torrezan, Giovana G; Petitalot, Ambre A; Leman, Raphael R; Lafitte, Philippe P; , ; Meseure, Didier D; Driouch, Keltouma K; Side, Lucy L; Brewer, Carole C; Beck, Sarah S; Melville, Athalie A; Callaway, Alison A; Revillion, Françoise F; Folgueira, Maria A A Koike MAAK; Parsons, Michael T MT; Thorne, Heather H; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Bieche, Ivan I; Caputo, Sandrine M SM; Rouleau, Etienne E
Publication Date: 2022-01-17
Variant appearance in text: HR: 68_69del
PubMed Link:
35039532
Variant Present in the following documents:
41523_2021_Article_361.pdf
View BVdb publication page
Value of the loss of heterozygosity to BRCA1 variant classification.
Npj Breast Cancer
Santana Dos Santos, Elizabeth E; Spurdle, Amanda B AB; Carraro, Dirce M DM; Briaux, Adrien A; Southey, Melissa M; Torrezan, Giovana G; Petitalot, Ambre A; Leman, Raphael R; Lafitte, Philippe P; , ; Meseure, Didier D; Driouch, Keltouma K; Side, Lucy L; Brewer, Carole C; Beck, Sarah S; Melville, Athalie A; Callaway, Alison A; Revillion, Françoise F; Folgueira, Maria A A Koike MAAK; Parsons, Michael T MT; Thorne, Heather H; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Bieche, Ivan I; Caputo, Sandrine M SM; Rouleau, Etienne E
Publication Date: 2022-01-17
Variant appearance in text: HR: 68_69del
PubMed Link:
35039532
Variant Present in the following documents:
41523_2021_Article_361.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: HR: 68_69del
PubMed Link:
34980015
Variant Present in the following documents:
Main text
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: HR: 68_69del
PubMed Link:
34980015
Variant Present in the following documents:
Main text
View BVdb publication page