sither
BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
LOVD v.3.0 Build 29 [
Current LOVD status
]
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Curator:
Instituto Nacional del Cancer
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Full data view for gene BRIP1
The variants shown are described using the
NM_032043.2
NM_032043.3
transcript reference sequence.
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.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Zygosity
: Homozygous or Heterozygous
All options:
Homo
Hetero
Not specified
Co_ocurrence
: If the variant is present in co-ocurrence with a mutation, please select the name of the mutated gene. If not, please select "no".
All options:
no
N/A
BRCA1
BRCA2
CHEK2
FANCC
MLH1
MSH2
MSH6
MUTYH
PALB2
PMS2
PTEN
APC
TP53
STK11
TSC1
RET
VHL
PALB2
NBN
CDKN2A
LZTR1
ATM
ERCC5
NF1
SDHB
BARD1
NTHL1
FANCC
BLM
BRIP1
RAD51C
GJB2
G6PC
SMN1
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Review status
: prueba
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg38)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
dbSNP ID
: The dbSNP ID.
Variant remarks
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
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
Date of test
: Date in which the results of the test were informed to the pacient
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
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
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Remarks
: Remarks about the individual.
Cuadro familiar
: Principales canceres que motivan la sospecha clinica
How to query this table
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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.
119 entries on 2 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
Protein
Zygosity
Co_ocurrence
RNA change
Review status
Allele
DNA change (genomic) (hg38)
Reference
DB-ID
dbSNP ID
Variant remarks
Template
Technique
Date of test
Lab
Remarks
Type of test
Disease
Ethnic origin
Reference
Remarks
Cuadro familiar
Panel size
Owner
?/?
2
c.1A>G
p.?
Hetero
no
r.?
-
Unknown
g.61861539T>C
-
BRIP1_000005
-
-
DNA
SEQ-NG
17-nov-2017
Genesia - Progenitest, COLOR
Hereditary Cancer Risk Test (30 genes)
Multigenetic panel
-
Japanese
-
-
-
1
Rita Valdez-Hospital Alemán
?/?
3
c.139C>G
(p.Pro47Ala)
Hetero
no
r.(139c>g)
-
Unknown
g.61859862G>C
-
BRIP1_000026
rs28903098
-
DNA
SEQ-NG
19-dec-2023
CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.
Multigenetic panel
Breast cancer
Latin-american
-
-
Breast cancer
1
Guillermo Alberto-Instituto Fleming
?/?
4
c.344C>T
p.(Pro115Leu)
Hetero
MLH1
r.(344c>u)
-
Unknown
g.61857093G>A
-
BRIP1_000021
-
-
DNA
SEQ-NG
31-may-2022
Genda/Color
Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
Multigenetic panel
Colon cancer
Peruvian
-
-
Colon cancer
1
Jesica Ramirez-Hospital Central de Mendoza
?/?
4
c.364T>G
(p.Ser122Ala)
Hetero
no
r.?
-
Unknown
g.61857073A>C
-
BRIP1_000029
rs1555617788
-
DNA
SEQ-NG
14-mar-2024
COLOR
Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
Multigenetic panel
Breast cancer
Syrian
-
-
Breast cancer
1
Guillermo Alberto-Instituto Fleming
?/?
5
c.388G>A
p.(Glu130Lys)
Hetero
no
r.(?)
-
Unknown
g.61849248C>T
-
BRIP1_000008
-
-
DNA
SEQ-NG
18-sep-2018
GENDA, COLOR
COLOR Hereditary Cancer Test (30 Genes)
Multigenetic panel
Breast cancer, Thyroid cancer
Spanish-Italian
-
-
Breast cancer, Thyroid cancer
1
Lina Nuñez-Hospital Alemán
+/+
5i
c.394dup
p.(Thr132Asnfs*10)
Hetero
N/A
r.(?)
-
Unknown
g.61849242dup
-
BRIP1_000011
-
-
DNA
SEQ-NG
20-mar-2019
Genos
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, ERCC4, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS1, PTEN, RAD51, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2)
Multigenetic panel
--
Italian-Basque-French
-
CIA (antec ambos/explica cuadro)
-
1
Angeles Nico-Instituto Roffo
-/-
5i
c.508-31C>G
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61847251G>C
-
BRIP1_000010
-
-
DNA
SEQ-NG
22-aug-2018
CEMIC
-
Multigenetic panel
--
Spanish-Italian
-
-
-
1
Pablo Kalfayan-Hospital Italiano
./?
6
c.517C>T
p.(Arg173Cys)
Hetero
no
r.(?)
-
Unknown
g.61847211G>A
-
BRIP1_000015
-
-
DNA
CNV, SEQ-NG
26-feb-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Italian
-
-
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
?/?
6
c.517C>T
p.(Arg173Cys)
Hetero
ATM
r.(517c>u)
-
Unknown
g.61847211G>A
-
BRIP1_000015
-
-
DNA
SEQ-NG
27-dec-2021
Hospital Privado Centro Médico de Córdoba
PANEL CÁNCER MAMA-OVARIO (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53
Multigenetic panel
--
jew (Ashkenazi)
-
-
-
1
Virginia Miretti-Hospital de Córdoba
?/?
6
c.517C>T
p.(Arg173Cys)
Hetero
no
r.(517c>u)
-
Unknown
g.61847211G>A
-
BRIP1_000015
rs4988345
-
DNA
SEQ-NG, CNV
28-01-23
Fundación para el Progreso de la Medicina
Breast and ovarian cancer panel (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53.
Multigenetic panel
Breast cancer
Argentinean/Basque - French
-
-
Breast cancer
1
Cecilia Montes-IMGO
?/?
7
c.679C>G
p.(Gln227Glu)
Hetero
no
r.(679c>g)
-
Unknown
g.61808706G>C
-
BRIP1_000020
-
-
DNA
SEQ-NG
09-feb-2022
Genia
Panel de genes para Cáncer Hereditario ( 143 genes )
Multigenetic panel
--
Spanish; Swedish-Argentinean
-
-
-
1
Pablo Kalfayan-Hospital Italiano
?/?
7
c.679C>G
p.(Gln227Glu)
Hetero
no
r.(679c>g)
-
Unknown
g.61808706G>C
-
BRIP1_000020
-
-
DNA
SEQ-NG
05-05-22
Hospital Privado Centro Médico de Córdoba
Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53
Multigenetic panel
--
Spanish
-
-
-
1
Virginia Miretti-Hospital de Córdoba
?/?
7
c.845C>G
p.(Thr282Ser)
Hetero
no
r.?
-
Unknown
g.61808540G>C
-
BRIP1_000032
rs45624635
-
DNA
SEQ-NG, CNV
01-may-2024
CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.
Multigenetic panel
Breast cancer
Spanish-Italian-Argentinean-Bulgarian
-
-
Breast cancer, Ovarian cancer, Prostate cancer
1
Guillermo Alberto-Instituto Fleming
+/+
8
c.1066C>T
p.(Arg356*)
Hetero
N/A
r.(?)
-
Unknown
g.61801327G>A
-
BRIP1_000007
-
-
DNA
SEQ-NG
22-dec-2017
GENDA, COLOR
Hereditary Cancer Risk Test (30 genes)
Multigenetic panel
Ovarian cancer
Italian
-
-
Colon cancer, Ovarian cancer
1
Lina Nuñez-Hospital Alemán
?/?
11-12i
c.1629-3T>C
p.?
Hetero
no
r.spl?
-
Unknown
g.61781008A>G
-
BRIP1_000017
-
-
DNA
SEQ-NG
22-apr-2021
IACA
Panel IACA (20 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53.
Multigenetic panel
Ovarian cancer
Argentinian
-
-
Ovarian cancer
1
Silvina Sisterna-Hospital de Comunidad
?/?
12
c.1663A>G
p.(Thr555Ala)
Hetero
no
r.(?)
-
Unknown
g.61780971T>C
-
BRIP1_000012
-
-
DNA
CNV, SEQ-NG
28-oct-2019
Invitae (deriv. Genda)
Invitae Multi-Cancer Panel (84 genes)
Multigenetic panel
-
Spanish
-
-
-
1
Maria Micaela Zicavo-Inst. Diag. La Plata
?/?
12
c.1676C>G
p.(Thr559Arg)
Hetero
no
r.?
-
Unknown
g.61780958G>C
-
BRIP1_000031
rs876658266
-
DNA
SEQ-NG
07-feb-2024
GENOS, Sistemas Genómicos
Massive sequencing of a panel of genes related to hereditary cancer: ACD, AIP, AKT1, ALK, APC, AR, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CSF3R, CTNNA1, DDB2, DICER1, DIS3L2, DKC1, DLST, EGLN1, EGLN2, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GALNT12, GCM2, GDNF, GFI1, GPC3, GPR101, GREM1, HAX1, HNF1A, HNF1B, HOXB13, HRAS, IDH1, JAGN1, KIF1B, KIT, LZTR1, MAD2L2, MAX, MC1R, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2, PARN, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRCC, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RFWD3, RNF139, RNF43, RPS20, RTEL1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SRP54, STK11, SUFU, TERC, TERT, TGFBR2, TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL, VPS45, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3
Multigenetic panel
N/A
European
-
-
Breast cancer, Ovarian cancer
1
Guillermo Alberto-Instituto Fleming
+/+
12
c.1702_1703del
p.(Asn568Trpfs*9)
Hetero
N/A
r.?
-
Unknown
g.61780931_61780932del
-
BRIP1_000034
-
-
DNA
SEQ-NG
30-jun-2023
GENDA, COLOR
Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.
Multigenetic panel
Colon cancer
Argentinean/Spanish
-
-
Colon cancer
1
Jesica Ramirez-Hospital Central de Mendoza
?/?
13
c.1831G>A
p.(Val611Ile)
Hetero
no
r.(1831g>a)
-
Unknown
g.61780365C>T
-
BRIP1_000022
rs777741543
-
DNA
SEQ-NG
18-12-20
Genos
Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
Multigenetic panel
--
French/Italian/Spanish
-
-
-
1
Lina Nuñez-Hospital Alemán
+?/+?
14
c.2038_2039del
p.(Leu680Valfs*36)
Hetero
N/A
r.(2038_2039del)
-
Unknown
g.61776461_61776462del
-
BRIP1_000028
rs587778134
-
DNA
SEQ-NG, CNV
30-jan-2024
CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.
Multigenetic panel
Breast cancer, Colon cancer, Multiple Myeloma
Italian
-
-
Breast cancer, Ovarian cancer
1
Guillermo Alberto-Instituto Fleming
?/?
14
c.2087C>T
p.(Pro696Leu)
Hetero
no
r.(2087c>u)
-
Unknown
g.61776411G>A
-
BRIP1_000027
rs147755155
-
DNA
SEQ-NG, CNV
24-apr-2023
CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
Breast and Ovarian Cancer panel (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDEKN2A, CHEK2, DICER1, FANCC, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMARCA4, STK11, TP53, XRCC2.
Multigenetic panel
Breast cancer
Croatian - Italian
-
-
Breast cancer, Skin cancer
1
Nerina Anmuth-Sanatorio Parque
-/?
15
c.2220G>T
p.(Gln740His)
Hetero
no
r.(?)
-
Unknown
g.61744469C>A
-
BRIP1_000004
-
-
DNA
SEQ-NG, z-score-CNV
13-oct-2016
Héritas
Panel Héritas (12 genes)
-
-
Caucasian-Spanish
-
-
-
1
Laura Vargas Roig-IMBECU
?/?
15
c.2220G>T
p.(Gln740His)
Hetero
no
r.(?)
-
Unknown
g.61744469C>A
-
BRIP1_000004
-
-
DNA
SEQ-NG
31-oct-2018
Hospital Privado Centro Médico de Córdoba
Panel breast&, ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)
Multigenetic panel
Breast cancer
Spanish
-
-
Breast cancer
1
Norma Rossi-Hospital de Córdoba
+/+
17
c.2392C>T
p.(Arg798*)
Hetero
N/A
r.(?)
-
Unknown
g.61716051G>A
-
BRIP1_000016
-
-
DNA
CNV, SEQ-NG
15-may-2020
Fares Taie
Panel 30 genes (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, MTHL1, PABL2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53)
Multigenetic panel
Breast cancer
Italian
-
(antec. ambos/explica cuadro)
Breast cancer, Colon cancer, Pancreatic cancer
1
Silvina Sisterna-Hospital de Comunidad
+/+
17
c.2392C>T
p.(Arg798*)
Hetero
N/A
r.(?)
-
Unknown
g.61716051G>A
-
BRIP1_000016
-
-
DNA
SEQ-NG
30-jun-2023
GENDA, COLOR
Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.
Multigenetic panel
Prostate cancer
Spanish/Spanish
-
-
Prostate cancer
1
Jesica Ramirez-Hospital Central de Mendoza
?/?
18
c.2537A>C
p.(Asp846Ala)
Hetero
no
r.(?)
-
Unknown
g.61693468T>G
-
BRIP1_000014
-
-
DNA
CNV, SEQ-NG
24-jan-2020
Hospital Privado Centro Médico de Córdoba
Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)
Multigenetic panel
Breast cancer
Lithuanian-Argentinian
-
-
Breast cancer
1
Claudia Martin-Hospital de Córdoba
-/-?
19
c.2637A>G
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
SEQ-NG
20-apr-2017
Dasa Genómica - Genia, INVITAE
Invitae Breast Cancer Panel
Multigenetic panel
Breast cancer
Syrian-Sephardic-Polish-Ashkenazi
-
-
Breast cancer
1
Lina Nuñez-Private Practice
-/-?
19
c.2637A>G
p.(=)
Homo
BRCA1
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
SEQ-NG, z-score-CNV
23-may-2017
Héritas
Panel Héritas (12 genes)
-
-
Spanish
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
-/-?
19
c.2637A>G
p.(=)
Homo
BRCA1
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
SEQ-NG, z-score-CNV
21-jul-2017
Héritas
-
Multigenetic panel
--
Caucasian
-
-
-
1
Gonzalo Tabares-CEMA
-/-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
SEQ-NG
19-jul-2017
Héritas
Panel Héritas (12 genes)
-
--
Spanish
-
-
-
1
Laura Vargas Roig-IMBECU
-/-?
19
c.2637A>G
p.(=)
Homo
BRCA2
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
26-sep-2018
IACA
CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53
Multigenetic panel
Breast cancer
Italian
-
(antec ambos/explica cuadro)
Breast cancer, Ovarian cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2637A>G
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
SEQ-NG
27-sep-2019
Domeq&, Lafage
-
Multigenetic panel
Pancreatic cancer
Italian
-
-
Breast cancer, Colon cancer, Ovarian cancer, Pancreatic cancer
1
Lina Nuñez-Private Practice
-/-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
29-jul-2019
IACA
-
Multigenetic panel
Breast cancer
Argentinian
-
-
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2637A>G
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
SEQ-NG
26-sep-2018
IACA
CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53
Multigenetic panel
Breast cancer
Spanish-Argentinian
-
-
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Not specified
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
10-jan-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Spanish-Italian
-
-
Pancreatic cancer
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Not specified
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
10-jan-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
N/A
Spanish-Lebanese
-
-
Breast cancer, Pancreatic cancer
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Not specified
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
26-dec-2019
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
18-jun-2019
IACA
-
Multigenetic panel
-
Italian-Argentinian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2637A>G
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
2-aug-2018
IACA
CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53.
Multigenetic panel
Breast cancer
Italian-French-Basque
-
-
Melanoma
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Not specified
ATM
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
4-oct-2019
IACA
-
Multigenetic panel
Breast cancer
Spanish-Italian-Argentinian
-
(antec personales/explica cuadro)
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
26-sep-2018
IACA
CNV test of BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53
Multigenetic panel
-
Russian-Italian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Not specified
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
9-dec-2019
IACA
-
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Not specified
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
21-oct-2019
IACA
-
Multigenetic panel
-
Spanish
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
26-feb-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Italian
-
-
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
5-jul-2017
Héritas
-
Multigenetic panel
-
Argentinian
-
-
-
1
Laura Vargas Roig-IMBECU
-/-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
SEQ-NG
22-nov-2019
Biogenotec
Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM)
Multigenetic panel
-
Unknown
-
-
-
1
Laura Vargas Roig-IMBECU
./-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
21-may-2020
IACA
Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Italian-Spanish
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
4-may-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Italian-Spanis-Ashkenazi
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
15-jul-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Italian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
15-jul-2020
IACA
-
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Homo
BRCA2
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
13-may-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Brazilian-Italian-German
-
(antec. ambos/explica cuadro)
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2637A>G
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
28-apr-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Polish-Italian-German-Russian
-
-
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2637A>G
p.(=)
Homo
no
r.(=)
-
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
27-nov-2019
Invitae
(deriv. Genesia) Invitae Multi-Cancer Panel (84 genes)
Multigenetic panel
Colon cancer
Spanish-Italian
-
-
Colon cancer
1
Lina Nuñez-Private Practice
-?/-
19
c.2637A>G
p.(=)
Hetero
no
r.(=)
RECLASSIFIED NOVEMBER 2020
Unknown
g.61686104T>C
-
BRIP1_000001
-
-
DNA
CNV, SEQ-NG
13-may-2020
IACA
Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Italian-Basque-French
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
+/+
19
c.2684_2687del
p.(Ser895*)
Hetero
N/A
r.?
-
Unknown
g.61686056_61686059del
-
BRIP1_000030
rs760551339
-
DNA
SEQ-NG
04-apr-2024
CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2.
Multigenetic panel
Breast cancer, Endometrial cancer
Italian - Spanish
-
-
Breast cancer, Endometrial cancer
1
Guillermo Alberto-Instituto Fleming
-/-?
19
c.2755T>C
p.(Ser919Pro)
Homo
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
SEQ-NG
20-apr-2017
Dasa Genómica - Genia, INVITAE
Invitae Breast Cancer Panel
Multigenetic panel
Breast cancer
Syrian-Sephardic-Polish-Ashkenazi
-
-
Breast cancer
1
Lina Nuñez-Private Practice
-/-?
19
c.2755T>C
p.(Ser919Pro)
Hetero
BRCA1
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
SEQ-NG, z-score-CNV
23-may-2017
Héritas
Panel Héritas (12 genes)
-
-
Spanish
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
-/-?
19
c.2755T>C
p.(Ser919Pro)
Homo
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
SEQ-NG, z-score-CNV
13-oct-2016
Héritas
Panel Héritas (12 genes)
-
-
Caucasian-Spanish
-
-
-
1
Laura Vargas Roig-IMBECU
-/-?
19
c.2755T>C
p.(Ser919Pro)
Hetero
BRCA1
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
SEQ-NG, z-score-CNV
21-jul-2017
Héritas
-
Multigenetic panel
--
Caucasian
-
-
-
1
Gonzalo Tabares-CEMA
-/-?
19
c.2755T>C
p.(Ser919Pro)
Homo
BRCA2
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
SEQ-NG, z-score-CNV
22-oct-2017
Héritas
-
Multigenetic panel
-
Italian
-
-
-
1
Gonzalo Tabares-CEMA
-/-?
19
c.2755T>C
p.(Ser919Pro)
Hetero
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
SEQ-NG
19-jul-2017
Héritas
Panel Héritas (12 genes)
-
--
Spanish
-
-
-
1
Laura Vargas Roig-IMBECU
-/-?
19
c.2755T>C
p.(Ser919Pro)
Homo
BRCA2
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
26-sep-2018
IACA
CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53
Multigenetic panel
Breast cancer
Italian
-
(antec ambos/explica cuadro)
Breast cancer, Ovarian cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2755T>C
p.(Ser919Pro)
Hetero
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
SEQ-NG
27-sep-2019
Domeq&, Lafage
-
Multigenetic panel
Pancreatic cancer
Italian
-
-
Breast cancer, Colon cancer, Ovarian cancer, Pancreatic cancer
1
Lina Nuñez-Private Practice
-/-?
19
c.2755T>C
p.(Ser919Pro)
Homo
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
29-jul-2019
IACA
-
Multigenetic panel
Breast cancer
Argentinian
-
-
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2755T>C
p.(Ser919Pro)
Hetero
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
SEQ-NG
26-sep-2018
IACA
CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53
Multigenetic panel
Breast cancer
Spanish-Argentinian
-
-
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2755T>C
p.(Ser919Pro)
Not specified
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
10-jan-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Spanish-Italian
-
-
Pancreatic cancer
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2755T>C
p.(Ser919Pro)
Not specified
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
10-jan-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
N/A
Spanish-Lebanese
-
-
Breast cancer, Pancreatic cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2755T>C
p.(Ser919Pro)
Hetero
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
18-jun-2019
IACA
-
Multigenetic panel
-
Italian-Argentinian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2755T>C
p.(Ser919Pro)
Hetero
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
2-aug-2018
IACA
CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53.
Multigenetic panel
Breast cancer
Italian-French-Basque
-
-
Melanoma
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2755T>C
p.(Ser919Pro)
Not specified
ATM
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
4-oct-2019
IACA
-
Multigenetic panel
Breast cancer
Spanish-Italian-Argentinian
-
(antec personales/explica cuadro)
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2755T>C
p.(Ser919Pro)
Homo
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
26-sep-2018
IACA
CNV test of BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53
Multigenetic panel
-
Russian-Italian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2755T>C
p.(Ser919Pro)
Not specified
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
9-dec-2019
IACA
-
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2755T>C
p.(Ser919Pro)
Not specified
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
21-oct-2019
IACA
-
Multigenetic panel
-
Spanish
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2755T>C
p.(Ser919Pro)
Homo
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
26-feb-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Italian
-
-
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2755T>C
p.(Ser919Pro)
Homo
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
5-jul-2017
Héritas
-
Multigenetic panel
-
Argentinian
-
-
-
1
Laura Vargas Roig-IMBECU
-/-?
19
c.2755T>C
p.(Ser919Pro)
Hetero
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
SEQ-NG
22-nov-2019
Biogenotec
Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM)
Multigenetic panel
-
Unknown
-
-
-
1
Laura Vargas Roig-IMBECU
./-?
19
c.2755T>C
p.(Ser919Pro)
Hetero
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
21-may-2020
IACA
Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Italian-Spanish
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2755T>C
p.(Ser919Pro)
Homo
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
4-may-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Italian-Spanis-Ashkenazi
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2755T>C
p.(Ser919Pro)
Homo
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
15-jul-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Italian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2755T>C
p.(Ser919Pro)
Homo
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
15-jul-2020
IACA
-
Multigenetic panel
-
Spanish-Italian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
./-?
19
c.2755T>C
p.(Ser919Pro)
Homo
BRCA2
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
13-may-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Brazilian-Italian-German
-
(antec. ambos/explica cuadro)
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
19
c.2755T>C
p.(Ser919Pro)
Homo
no
r.(?)
-
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
27-nov-2019
Invitae
(deriv. Genesia) Invitae Multi-Cancer Panel (84 genes)
Multigenetic panel
Colon cancer
Spanish-Italian
-
-
Colon cancer
1
Lina Nuñez-Private Practice
-?/-
19
c.2755T>C
p.(Ser919Pro)
Hetero
no
r.(?)
RECLASSIFIED NOVEMBER 2020
Unknown
g.61685986A>G
-
BRIP1_000002
-
-
DNA
CNV, SEQ-NG
13-may-2020
IACA
Panel (ATM, BARD1, BRCA1/2, BRIP1, CDH1, CHEK2. EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
-
Italian-Basque-French
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
?/?
19
c.2801T>C
p.(Phe934Ser)
Hetero
BARD1
r.(2801u>c)
-
Unknown
g.61685940A>G
-
BRIP1_000024
rs778916092
-
DNA
SEQ-NG
19-01-23
Hospital Privado Centro Médico de Córdoba
Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53
Multigenetic panel
Breast cancer
unknown
-
-
Breast cancer
1
Emilia Maldonado-Hospital de Córdoba
-?/-
20
c.2937A>G
p.(=)
Hetero
no
r.(=)
RECLASSIFIED JULY 2022
Unknown
g.61684109T>C
-
BRIP1_000006
-
-
DNA
SEQ-NG, z-score-CNV
23-nov-2017
Héritas
Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4
Multigenetic panel
--
Caucasian
-
-
-
1
Gonzalo Tabares-CEMA
+?/+?
20
c.2990_2993del
p.Thr997ArgfsTer61
Hetero
no
r.(2990_2993del)
-
Unknown
g.61684055TGTT[2]
-
BRIP1_000023
rs771028677
-
DNA
SEQ-NG
27-04-21
Biogenotec
BRCA1, BRCA2, ATM, PTEN, CHEK2, STK11, TP53, CDH1, BRIP1
Specific pathology
Breast cancer
Argentinean/Chilean/Spanish - Argentinean
-
-
Breast cancer, Ovarian cancer
1
Laura Vargas Roig-IMBECU
+/+
20
c.2992_2993del
p.(Lys998Glufs*3)
Hetero
N/A
r.(2992_2993del)
-
Unknown
g.61684054_61684055del
-
BRIP1_000025
rs878855151
-
DNA
SEQ-NG
27-jul-2023
GENOS
hereditary cancer panel (163 genes)
Multigenetic panel
Colon cancer
Spanish/German
-
-
Colon cancer, Pancreatic cancer
1
Pablo Kalfayan-Hospital Italiano
?/?
20
c.3056C>T
p.(Ala1019Val)
Hetero
no
r.?
-
Unknown
g.61683990G>A
-
BRIP1_000033
rs1555572884
-
DNA
SEQ-NG
17-apr-2024
COLOR
Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.
Multigenetic panel
Breast cancer
Italian - Spanish
-
-
Breast cancer, Ovarian cancer
1
Guillermo Alberto-Instituto Fleming
-/-?
20
c.3411T>C
p.(=)
Homo
no
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
SEQ-NG
20-apr-2017
Dasa Genómica - Genia, INVITAE
Invitae Breast Cancer Panel
Multigenetic panel
Breast cancer
Syrian-Sephardic-Polish-Ashkenazi
-
-
Breast cancer
1
Lina Nuñez-Private Practice
-/-?
20
c.3411T>C
p.(=)
Hetero
BRCA1
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
SEQ-NG, z-score-CNV
23-may-2017
Héritas
Panel Héritas (12 genes)
-
-
Spanish
-
-
-
1
Alejandra Mampel-Hospital Universitario de Mendoza
-/-?
20
c.3411T>C
p.(=)
Hetero
BRCA1
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
SEQ-NG, z-score-CNV
21-jul-2017
Héritas
-
Multigenetic panel
--
Caucasian
-
-
-
1
Gonzalo Tabares-CEMA
-/-?
20
c.3411T>C
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
SEQ-NG
19-jul-2017
Héritas
Panel Héritas (12 genes)
-
--
Spanish
-
-
-
1
Laura Vargas Roig-IMBECU
-/-?
20
c.3411T>C
p.(=)
Homo
BRCA2
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
CNV, SEQ-NG
26-sep-2018
IACA
CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53
Multigenetic panel
Breast cancer
Italian
-
(antec ambos/explica cuadro)
Breast cancer, Ovarian cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
20
c.3411T>C
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
SEQ-NG
27-sep-2019
Domeq&, Lafage
-
Multigenetic panel
Pancreatic cancer
Italian
-
-
Breast cancer, Colon cancer, Ovarian cancer, Pancreatic cancer
1
Lina Nuñez-Private Practice
-/-?
20
c.3411T>C
p.(=)
Homo
no
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
CNV, SEQ-NG
29-jul-2019
IACA
-
Multigenetic panel
Breast cancer
Argentinian
-
-
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
20
c.3411T>C
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
SEQ-NG
26-sep-2018
IACA
CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53
Multigenetic panel
Breast cancer
Spanish-Argentinian
-
-
Breast cancer
1
Silvina Sisterna-Hospital de Comunidad
./-?
20
c.3411T>C
p.(=)
Not specified
no
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
CNV, SEQ-NG
10-jan-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
Breast cancer
Spanish-Italian
-
-
Pancreatic cancer
1
Silvina Sisterna-Hospital de Comunidad
./-?
20
c.3411T>C
p.(=)
Not specified
no
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
CNV, SEQ-NG
10-jan-2020
IACA
Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53)
Multigenetic panel
N/A
Spanish-Lebanese
-
-
Breast cancer, Pancreatic cancer
1
Silvina Sisterna-Hospital de Comunidad
-/-?
20
c.3411T>C
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
CNV, SEQ-NG
18-jun-2019
IACA
-
Multigenetic panel
-
Italian-Argentinian
-
-
-
1
Silvina Sisterna-Hospital de Comunidad
-/-?
20
c.3411T>C
p.(=)
Hetero
no
r.(=)
-
Unknown
g.61683635A>G
-
BRIP1_000003
-
-
DNA
CNV, SEQ-NG
2-aug-2018
IACA
CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53.
Multigenetic panel
Breast cancer
Italian-French-Basque
-
-
Melanoma
1
Silvina Sisterna-Hospital de Comunidad
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