sither
BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Log in
Curator:
Instituto Nacional del Cancer
View all genes
View BRIP1 gene homepage
View graphs about the BRIP1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene BRIP1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene BRIP1
View all variants in gene BRIP1
Full data view for gene BRIP1
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene BRIP1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene BRIP1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene BRIP1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene BRIP1
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Template
: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
SEQ-NG = Next-Generation Sequencing
SEQ = SEQuencing
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CNV
CSCE = Conformation Sensitive Capillary Electrophoresis
DECoN = Detection of Exon Copy Number variants
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
in-house algorithm for CNV
z-score-CNV = z-score based algorithm for CNV detection in targeted NGS
Lab
: Name of the Laboratory that performed the screening.
All options:
ARGENETICS
ARGENOMICS - Fundacion Investigar
Biocodices S.A.
Biogenotec
BIOMAKERS Molecular Pathology & Research
Bionet
Centro de Diagnostico Molecular (CDM)
Centro de Educación Médica e Investigaciones Clínicas (CEMIC)
Centro de Estudios Geneticos (CEG)
Centro de Investigaciones Endocrinologicas “Dr. Cesar Bergada” (CEDIE)
Centro Nacional de Genetica Medica "Dr. Eduardo E. Castilla" (CENAGEM)
Centro Privado Internacional de Medicina Personalizada - CEPIMP Genomics
CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
CITOGEN.LAB
Clínica Universitaria Reina Fabiola
Dasa Genómica - Genia
Diagnus Lab
Domeq&Lafage
Fundacion BIOGEN
Fundación para el Progreso de la Medicina
FUNDAGEN S.A.
Gammalab - Grupo Gamma S.A.
GENDA
Genesia - Progenitest
Genologica laboratorio de análisis genéticos
GENOS
Grupo de investigacion en Genetica Aplicada (GIGA)
Hospital Alemán
Hospital de Gastroenterología Dr. Carlos Bonorino Udaondo
Hospital Italiano de Buenos Aires
Hospital Privado Centro Médico de Córdoba
Hospital Universitario Austral
IACA Laboratorios
IBC Laboratorios
Instituto Alexander Fleming
Laboratorio Barros
Laboratorio de Biologia Celular y Molecular IHEM-CONICET CCT Mendoza
Laboratorio de Medicina Genomica - Facultad de Medicina - UNNE
Laboratorio Dr. Rapela
Laboratorio Dra. Marta Cortelezzi
Laboratorio Fares Taie
Laboratorio Flores
Laboratorio Hidalgo S.A.
Laboratorio High Medic Group S.A.
Laboratorio Integral SRL
Laboratorio Maipu
Laboratorio Motter
Laboratorio NANNI
Laboratorio PampaGEN
Laboratorio Tucumán
Laboratorios Turner
LACE Laboratorios
LEB (Laboratorio de Especialidades Bioquimicas)
MANLAB
MEDgenomica
PRICAI-Primer Centro Argentino de Inmunogenética-Fundación Favaloro
Sanatorio Allende
Stamboulian Laboratorio
STEM
VZ Laboratorios
Zoigen
AMBRY GENETICS
Baylor Genetics
Blueprint Genetics
CENTOGENE
COLOR
GENE ONE
Health in code
Iden Gene
IMEGEN
INVITAE
Laboratorio ATGen (E)
Laboratorio ATGen
MACROGEN
Myriad Genetics
SENTIS
Sistemas Genómicos
------
Color
Genda
Genda/Color
Genesia
Genesia/Invitae
Genia/Invitae
Genia/Color
Genia
Genos
Genos/Color
Hospital Privado Centro Médico de Córdoba
Hospital Privado Centro médico de Córdoba/IACA
Héritas
IACA
Invitae
AbaCid
Ambry Genetics
Alexander Fleming
Alexander Fleming/Baylor College
Alexander Fleming/Genesia-INVITAE
Argenomics
Baylor Genetics
BIOGEN
Biogenotec
BIOMAKERS Molecular Pathology & Research
BIONET
Blueprint Genetics
CEDIE
CEG
CEMIC
Centro de diagnóstico molecular
CEPIMP Genomics
CeNaGeM
Centogene
CIBIC
CIBIC/Héritas
Ciscato&Sharovsky
Clinica Universitaria Reina Fabiola
DIAGNUS LAB
Domeq&Lafage
Dr. Rapela
Fares Taie
FARESTAIE/Héritas
FAVALORO-PRICAI
Fundación para el Progreso de la Medicina
Fundación para el Progreso de la Medicina/CIBIC/Héritas
Fundagen
Gammalab
GeneDx
GIGA
Health in code
Hidalgo
High Medic Group
Hospital Alemán
Hospital de Gastroenterologia
Sanatorio Allende
MEDgenomica
LACE
HEMA
Centro médico de Córdoba
DASA-INVITAE
Bioscreen Rosario
x
Remarks
: Remarks
Date of test
: Date in which the results of the test were informed to the pacient
Type of test
: Type of test
All options:
Known familial mutation
Multigenetic panel
Specific pathology
Ashkenazi panel
Germline variant found in somatic testing
Whole exome
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
39 entries on 1 page. Showing entries 1 - 39.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Screening ID
Individual ID
Template
Technique
Lab
Remarks
Date of test
Type of test
Variants found
Owner
0000000109
00000100
DNA
SEQ-NG
Dasa Genómica - Genia;INVITAE
Invitae Breast Cancer Panel
20-apr-2017
Multigenetic panel
20
Lina Nuñez-Private Practice
0000000197
00000173
DNA
SEQ-NG
Sanatorio Allende
Breast Cancer Panel
2-may-2017
-
2
Norma Rossi-Hospital de Córdoba
0000000209
00000184
DNA
SEQ-NG;z-score-CNV
Héritas
Panel Héritas (12 genes)
23-may-2017
-
21
Alejandra Mampel-Hospital Universitario de Mendoza
0000000229
00000202
DNA
SEQ-NG;z-score-CNV
Héritas
Panel Héritas (12 genes)
13-oct-2016
-
6
Laura Vargas Roig-IMBECU
0000000284
00000243
DNA
SEQ-NG
Dasa Genómica - Genia;INVITAE
Invitae Breast Cancer Panel
31-jul-2017
Multigenetic panel
1
Norma Rossi-Hospital de Córdoba
0000000449
00000396
DNA
SEQ-NG;z-score-CNV
Héritas
-
21-jul-2017
Multigenetic panel
28
Gonzalo Tabares-CEMA
0000000460
00000407
DNA
SEQ-NG;z-score-CNV
Héritas
-
22-oct-2017
Multigenetic panel
8
Gonzalo Tabares-CEMA
0000000503
00000446
DNA
SEQ-NG
Héritas
Panel Héritas (12 genes)
21-sep-2017
-
4
Laura Vargas Roig-IMBECU
0000000506
00000449
DNA
SEQ-NG
Héritas
Panel Héritas (12 genes)
19-jul-2017
-
13
Laura Vargas Roig-IMBECU
0000000510
00000453
DNA
SEQ-NG
Héritas
Panel Héritas (12 genes)
14-aug-2017
-
5
Laura Vargas Roig-IMBECU
0000000681
00000594
DNA
SEQ-NG
IACA
CNVs screening for BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53
4-may-2018
Multigenetic panel
1
Lina Nuñez-Private Practice
0000000807
00000149
DNA
SEQ-NG
CEMIC
-
22-aug-2018
Multigenetic panel
15
Pablo Kalfayan-Hospital Italiano
0000001229
00001024
DNA
CNV;SEQ-NG
IACA
CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53
26-sep-2018
Multigenetic panel
27
Silvina Sisterna-Hospital de Comunidad
0000001283
00001072
DNA
CNV;SEQ-NG
IACA
-
4-oct-2019
Multigenetic panel
24
Silvina Sisterna-Hospital de Comunidad
0000001393
00001166
DNA
CNV;SEQ-NG
Invitae (deriv. Genia)
-
24-oct-2019
Multigenetic panel
1
Pablo Kalfayan-Hospital Italiano
0000001491
00001252
DNA
SEQ-NG
Domeq&Lafage
-
27-sep-2019
Multigenetic panel
16
Lina Nuñez-Private Practice
0000001495
00001256
DNA
CNV;SEQ-NG
Invitae (deriv. Genesia)
-
11-dec-2019
Multigenetic panel
-
Maria Micaela Zicavo-Inst. Diag. La Plata
0000001516
00001277
DNA
CNV;SEQ-NG
IACA
-
29-jul-2019
Multigenetic panel
31
Silvina Sisterna-Hospital de Comunidad
0000001517
00001278
DNA
SEQ-NG
IACA
CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53
26-sep-2018
Multigenetic panel
24
Silvina Sisterna-Hospital de Comunidad
0000001524
00001285
DNA
CNV;SEQ-NG
IACA
CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53.
2-aug-2018
Multigenetic panel
32
Silvina Sisterna-Hospital de Comunidad
0000001530
00001291
DNA
CNV;SEQ-NG
IACA
-
18-jun-2019
Multigenetic panel
20
Silvina Sisterna-Hospital de Comunidad
0000001533
00001294
DNA
CNV;SEQ-NG
IACA
CNV test of BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53
26-sep-2018
Multigenetic panel
23
Silvina Sisterna-Hospital de Comunidad
0000001536
00001297
DNA
CNV;SEQ-NG
IACA
-
9-dec-2019
Multigenetic panel
25
Silvina Sisterna-Hospital de Comunidad
0000001542
00001303
DNA
CNV;SEQ-NG
IACA
-
21-oct-2019
Multigenetic panel
21
Silvina Sisterna-Hospital de Comunidad
0000001688
00001434
DNA
CNV;SEQ-NG
Héritas
-
28-sep-2019
Multigenetic panel
2
Erika Stegmayer-CIOC
0000001693
00001439
DNA
CNV;SEQ-NG
Héritas
-
5-jul-2017
Multigenetic panel
16
Laura Vargas Roig-IMBECU
0000001816
00001543
DNA
SEQ-NG
Biogenotec
-
14-oct-2020
Multigenetic panel
1
Alejandra Mampel-COIR
0000001835
00001562
DNA
SEQ-NG
Biogenotec
-
13-may-2021
Multigenetic panel
1
Alejandra Mampel-COIR
0000001836
00001563
DNA
SEQ-NG
Biogenotec
-
03-feb-2020
Multigenetic panel
1
Alejandra Mampel-Hospital Universitario de Mendoza
0000001944
00001669
DNA
SEQ-NG
IACA
Panel (13 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, NBN, PALB2, PTEN,RAD51C, RAD51D, STK11,TP53
27-jan-2021
Multigenetic panel
2
Silvina Sisterna-Hospital de Comunidad
0000001954
00001679
DNA
SEQ-NG
Biogenotec
Panel Cáncer de mama y ovario DE 14 GENES (ATM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, NBN,PALB2, PMS2, PTEN, STK11, TP53)
29-oct-2020
Multigenetic panel
2
Alejandra Mampel-COIR
0000002011
00001732
DNA
SEQ-NG
CIBIC/Héritas
Sindrome cáncer hereditario mama y ovarios (14 genes) ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
23-jan-2018
Multigenetic panel
1
Instituto Nacional del Cancer
0000002013
00001734
DNA
SEQ-NG
CIBIC/Héritas
Sindrome cáncer hereditario mama y ovarios (14 genes) ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
04-oct-2018
Multigenetic panel
1
Marcela Lopez-CEMAFE
0000002021
00001742
DNA
SEQ-NG
CIBIC/Héritas
Sindrome cáncer hereditario mama y ovarios (14 genes) ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
20-jul-2018
Multigenetic panel
1
Marcela Lopez-CEMAFE
0000002028
00001749
DNA
SEQ-NG
IACA
Panel (13 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, NBN, PALB2, PTEN,RAD51C, RAD51D, STK11,TP53
01-jan-2020
Multigenetic panel
2
Luisina Bruno-Instituto Fleming
0000002412
00002125
DNA
SEQ-NG
Fares Taie
Sindrome cáncer hereditario mama y ovarios (13 genes) ATM, BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, RAD51D, STK11
28-jul-2021
Multigenetic panel
1
Lina Nuñez-Private Practice
0000002427
00002139
DNA
SEQ
CEMIC
Analisis de variantes c.6683T>C - p.Val2228Ala en EXON 11, c.7007G>A - p-Arg2336His en EXON 12 del gen BRCA2 (NM_000059.3); c.3571A>G - p.Ile1191Val en EXON 20 del gen BRIP1 (NM_032043.3)
30-jul-2021
Known familial mutation
Not yet submitted
Lina Nuñez-Hospital Alemán
0000002666
00002332
DNA
SEQ-NG
Biogenotec
BRCA1, BRCA2, ATM, PTEN, CHEK2, STK11, TP53, CDH1, BRIP1
27-04-21
Specific pathology
2
Laura Vargas Roig-IMBECU
0000003520
00003202
DNA
SEQ-NG
HEMA
-
24-jan-2023
Multigenetic panel
-
Jesica Ramirez-Hospital Central de Mendoza
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center