Individual ID
|
Ethnic origin
|
Reference
|
Remarks
|
Cuadro familiar
|
Disease
|
Phenotype details
|
Genes screened
|
Variants in genes
|
Variants
|
Panel size
|
Owner
|
00000312 |
Argentinian |
- |
- |
Colon cancer |
Colon cancer |
- |
MLH1, MSH2, MSH6, MUTYH, PMS2 |
MLH1, MSH2, MSH6, MUTYH, PMS2 |
39 |
1 |
Lina Nuñez-Private Practice |
00000347 |
German |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MSH2 |
1 |
1 |
Claudia Martin-Hospital de Córdoba |
00000508 |
Egyptian-Greek |
- |
(antec ambos/explica cuadro) |
Colon cancer |
Colon cancer |
- |
MLH1, MSH2 |
CDH1, MSH2 |
2 |
1 |
Lina Nuñez-Private Practice |
00000557 |
Spanish-Basque |
- |
- |
Colon cancer |
Colon cancer |
- |
MLH1, MSH2, MSH6, MUTYH, PMS2 |
MLH1, MSH2, MSH6, MUTYH, PMS2 |
31 |
1 |
Lina Nuñez-Hospital Alemán |
00000731 |
Unknown |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MLH1 |
1 |
1 |
Lina Nuñez-Hospital Alemán |
00000733 |
Italian |
- |
- |
Breast cancer, Colon cancer |
Colon cancer |
- |
EPCAM, MLH1, MSH2, MSH6, PMS2 |
MLH1 |
1 |
1 |
Lina Nuñez-Private Practice |
00000769 |
Spanish |
- |
- |
Colon cancer, Ovarian cancer |
Colon cancer, Ovarian cancer |
- |
BRCA1 |
BRCA1 |
2 |
1 |
Norma Rossi-Hospital de Córdoba |
00000771 |
Unknown |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
BLM, CDH1, MSH2 |
3 |
1 |
Norma Rossi-Hospital de Córdoba |
00000787 |
Spanish-Italian |
- |
CIA (antec pnales/explica cuadro clínico?) |
Colon cancer |
Colon cancer |
- |
EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 |
EPCAM, MLH1, MSH6, PMS2 |
13 |
1 |
Lina Nuñez-Hospital Alemán |
00000859 |
Italian |
- |
CIA (antec ambos/explica cuadro clínico) |
Colon cancer |
Colon cancer |
- |
- |
MSH2 |
1 |
1 |
Lina Nuñez-Hospital Alemán |
00000902 |
Spanish (Galician) |
- |
(antec ambos/explica cuadro) |
Breast cancer, Colon cancer |
Colon cancer |
- |
- |
MSH2 |
1 |
1 |
Lina Nuñez-Private Practice |
00001057 |
Spanish |
- |
(antec ambos/explica cuadro) |
Breast cancer |
Breast cancer, Colon cancer |
- |
- |
MUTYH |
2 |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00001058 |
Spanish |
- |
(antec ambos/explica cuadro) |
Colon cancer |
Colon cancer |
- |
- |
MLH1, PMS2 |
2 |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00001059 |
Spanish |
- |
(antec ambos/explica cuadro) |
Colon cancer |
Colon cancer |
- |
- |
APC, MSH6, MUTYH |
3 |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00001074 |
Italian-Basque |
- |
(antec personales/explica cuadro) |
Breast cancer, Ovarian cancer, Pancreatic cancer |
Colon cancer |
- |
- |
MSH2 |
1 |
1 |
Silvina Sisterna-Hospital de Comunidad |
00001144 |
Spanish |
- |
- |
Colon cancer, Melanoma |
Colon cancer, Melanoma |
- |
- |
MSH6 |
1 |
1 |
Claudia Martin-Hospital de Córdoba |
00001246 |
Spanish-Slovakian-Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Lina Nuñez-Hospital Alemán |
00001334 |
Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
ATM, CHEK2 |
2 |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00001337 |
Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
CEBPA, CHEK2, DICER1, PDGFRA |
4 |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00001376 |
Italian-Argentinian |
- |
(explica cuadro) |
Familial Adenomatous Polyposis Syndrome |
Colon cancer |
- |
APC |
APC |
1 |
1 |
Claudia Martin-Hospital de Córdoba |
00001387 |
Italian |
- |
- |
Breast cancer, Colon cancer, Lymphoma |
Colon cancer |
- |
- |
CHEK2, MSH2 |
2 |
1 |
Claudia Martin-Hospital de Córdoba |
00001462 |
Russian-Ashkenazi |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Lina Nuñez-Hospital Alemán |
00001519 |
Unknown |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MSH2 |
1 |
1 |
Claudia Martin-Hospital de Córdoba |
00001536 |
Spanish-Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
AIP, ALK, APC, AXIN2, BARD1, BRCA1, BRCA2, BRIP1, CASR, CDH1, CDKN1C, CDKN2A, DICER1, EGFR, FLCN, GATA2, HRAS, MEN1, MET, MSH2, MSH3, MSH6, MUTYH, NF1, PALB2, PDGFRA, PHOX2B, PMS2, POLE, POT1, PTCH1, RB1, RECQL, RECQL4, RET, SDHA, SDHB, SMARCB1, STK11, TMEM127, TP53, TSC1, TSC2, WRN, WT1 |
116 |
1 |
Lina Nuñez-Private Practice |
00001638 |
Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MET, TP53 |
3 |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00001641 |
Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MLH1 |
1 |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00001645 |
Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
APC, DIS3L2 |
3 |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00001661 |
Italian |
- |
- |
Colon cancer, Prostate cancer |
Colon cancer |
- |
- |
CHEK2, POLE, TP53 |
3 |
1 |
Silvina Sisterna-Hospital de Comunidad |
00001761 |
Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MLH1 |
1 |
1 |
Claudia Martin-Hospital de Córdoba |
00001799 |
Spanish; Spanish |
- |
- |
Colon cancer, Endometrial cancer |
Colon cancer, Hodgkin lymphoma |
- |
- |
- |
- |
1 |
Lina Nuñez-Hospital Alemán |
00001815 |
Spanish-Argentinian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
FLCN |
1 |
1 |
Claudia Martin-Hospital de Córdoba |
00001995 |
Russian/jew (Ashkenazi)/Polish |
- |
- |
Colorectal cancer, Ovarian cancer |
Colon cancer, Ovarian cancer |
- |
- |
MSH2 |
1 |
1 |
Lina Nuñez-Private Practice |
00002048 |
French/Spanish-Portuguese/Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
ATM, ERCC5 |
4 |
1 |
Norma Rossi - Sanatorio Allende |
00002064 |
Spanish/Spanish |
- |
- |
Colon cancer |
Colon cancer, Duodenal cancer, Gastric cancer, Melanoma |
- |
- |
ATM, TP53 |
2 |
1 |
Maria Laura Gonzalez-Hospital Italiano |
00002075 |
Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00002079 |
Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
APC |
1 |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00002094 |
Peruvian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
BRIP1, MLH1 |
2 |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
00002172 |
Italian/Spanish |
- |
- |
Lynch syndrome |
Colon cancer, Endometrial cancer |
- |
MSH6 |
MSH6 |
1 |
1 |
Silvina Sisterna-Hospital de Comunidad |
00002181 |
German/Argentinean |
- |
- |
Gastric cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Silvina Sisterna-Hospital de Comunidad |
00002192 |
Italian-Spanish |
- |
- |
Breast cancer, Colon cancer, Prostate cancer |
Breast cancer, Colon cancer, Melanoma |
- |
- |
- |
- |
1 |
Lina Nuñez-Hospital Alemán |
00002212 |
Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
PMS2 |
2 |
1 |
Claudia Martin-Hospital de Córdoba |
00002213 |
Italian/Basque, Swiss |
- |
- |
Bladder cancer, Breast cancer, Colon cancer, Testicle cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Claudia Martin-Hospital de Córdoba |
00002227 |
Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Claudia Martin-Hospital de Córdoba |
00002236 |
French/Spanish/German-German/Italian/Swiss |
- |
- |
Colon cancer |
Colon cancer |
- |
APC, GREM1, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, STK11 |
- |
- |
1 |
Lina Nuñez-Hospital Alemán |
00002267 |
Spanish-Italian/Italian-Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
ATM |
1 |
1 |
Norma Rossi - Sanatorio Allende |
00002270 |
Italian/ND |
- |
- |
Breast cancer, Colon cancer |
Breast cancer, Colon cancer |
- |
- |
- |
- |
1 |
Lina Nuñez-Private Practice |
00002273 |
Italian-Argentinian/Argentinian |
- |
- |
Colon cancer, Prostate cancer |
Colon cancer |
- |
- |
ATM, BRCA2 |
2 |
1 |
Pablo Kalfayan-Hospital Italiano |
00002275 |
Spanish-Italian/Russian(non jewish) |
- |
- |
Colon cancer, Prostate cancer |
Colon cancer |
- |
- |
MSH6 |
1 |
1 |
Pablo Kalfayan-Hospital Italiano |
00002280 |
Italian/Italian |
- |
- |
Breast cancer, Colon cancer |
Colon cancer |
- |
- |
CHEK2 |
1 |
1 |
Pablo Kalfayan-Hospital Italiano |
00002282 |
Spanish/Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Maria Laura Gonzalez-Hospital Italiano |
00002295 |
italian-spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Maria Laura Gonzalez-Hospital Italiano |
00002296 |
spanish - spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Maria Laura Gonzalez-Hospital Italiano |
00002302 |
unknown |
- |
- |
Colon cancer, Pancreatic cancer |
Colon cancer |
- |
- |
APC, CHEK2 |
2 |
1 |
Emilia Maldonado-Hospital de Córdoba |
00002311 |
Italian/spanish/irish/french - spanish/italian |
- |
- |
Colon cancer, Gastric cancer |
Colon cancer |
- |
- |
ALK, CDC73, PALB2, PTCH1 |
5 |
1 |
Pablo Kalfayan-Hospital Italiano |
00002314 |
French - Native argentinian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Claudia Martin-Hospital de Córdoba |
00002349 |
Native argentinian |
- |
- |
Familial aenomatous polyposis |
Colon cancer |
- |
- |
APC |
1 |
1 |
Virginia Miretti-Hospital de Córdoba |
00002351 |
Argentinean/spanish -spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MLH1 |
1 |
1 |
Lina Nuñez-Private Practice |
00002363 |
Spanish – Italian |
- |
- |
Colon cancer, Ovarian cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Pablo Kalfayan-Hospital Italiano |
00002386 |
Argentinean/Armenian – Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
APC, MUTYH |
2 |
1 |
Pablo Kalfayan-Hospital Italiano |
00002391 |
Spanish/Argentinean - french/argentinean |
- |
- |
Colon cancer, Pancreatic cancer, Prostate cancer |
Colon cancer |
- |
- |
RAD50 |
1 |
1 |
Pablo Kalfayan - Consultorio Particular. |
00002394 |
Spanish - Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
APC |
1 |
1 |
Maria Laura Gonzalez-Hospital Italiano |
00002396 |
Spanish – Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
CTC1, ERCC2, FANCD2, MSH2 |
5 |
1 |
Pablo Kalfayan-Hospital Italiano |
00002448 |
Polish / Jew-Polish |
- |
- |
Breast cancer, Colon cancer, Thyroid cancer |
Colon cancer, Thyroid cancer |
- |
- |
- |
- |
1 |
Lina Nuñez-Private Practice |
00002451 |
Paraguay - Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
ATM, MSH2 |
2 |
1 |
Pablo Kalfayan-Hospital Italiano |
00002452 |
Italian - Italian/spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
BRCA2 |
1 |
1 |
Pablo Kalfayan-Hospital Italiano |
00002456 |
Italian - Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MLH1, RHBDF2 |
2 |
1 |
Pablo Kalfayan-Hospital Italiano |
00002461 |
Argentinean - Paraguaian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Yolanda Isabel Medina - Hospital Juan D. Perón |
00002528 |
Paraguaian - Argentinean |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
APC, POLE |
2 |
1 |
Yolanda Isabel Medina - Hospital Juan D. Perón |
00002588 |
Spanish - Russian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
PMS2 |
1 |
1 |
Maria Laura Gonzalez-Hospital Italiano |
00002617 |
Italian - Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
APC |
1 |
1 |
Cecilia Montes-IMGO |
00002631 |
Spanish/German |
- |
- |
Colon cancer, Pancreatic cancer |
Colon cancer |
- |
- |
BRIP1, PMS2 |
2 |
1 |
Pablo Kalfayan-Hospital Italiano |
00002638 |
Italian/Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Maria Laura Gonzalez-Hospital Italiano |
00002647 |
Basque Spanish/Swiss |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Claudia Martin-Hospital de Córdoba |
00002658 |
Unknown/Unkown |
- |
- |
Colon cancer, Ovarian cancer |
Colon cancer, Ovarian cancer |
- |
- |
- |
- |
1 |
Claudia Martin-Hospital de Córdoba |
00002663 |
Spanish / Italian |
- |
- |
Colon |
Colon cancer |
- |
- |
- |
- |
1 |
Pablo Kalfayan-Hospital Italiano |
00002665 |
Italia / Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
POLE |
2 |
1 |
Maria Laura Gonzalez-Hospital Italiano |
00002669 |
Spanish/Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
MLH1, MSH2, MSH6, MUTYH, PMS2 |
MLH1 |
1 |
1 |
Maria Laura Gonzalez-Hospital Italiano |
00002711 |
Latin-american / Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Guillermo Alberto-Instituto Fleming |
00002725 |
Italian - Spanish - Portuguese |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Guillermo Alberto-Instituto Fleming |
00002732 |
Argentinean - Spanish |
- |
- |
Hereditary Breast and Ovarian cancer syndrome, BRCA1 and/or BRCA2 genes |
Breast cancer, Cervical Cancer, Colon cancer, Oligopolyposis |
- |
BRCA2 |
BRCA2 |
1 |
1 |
Guillermo Alberto-Instituto Fleming |
00002750 |
Italian - Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
TSC2 |
1 |
1 |
Guillermo Alberto-Instituto Fleming |
00002753 |
Spanish - Italian |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MRE11, MUTYH, TERF2IP |
3 |
1 |
Guillermo Alberto-Instituto Fleming |
00002760 |
Italian - Spanish - Swiss |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
ATM |
1 |
1 |
Guillermo Alberto-Instituto Fleming |
00002777 |
Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MLH1 |
1 |
1 |
Claudia Martin-Hospital de Córdoba |
00002796 |
American - American |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MLH1 |
1 |
1 |
Nerina Anmuth-Sanatorio Parque |
00002802 |
Native Argentinean |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Silvina Sisterna-Hospital de Comunidad |
00002822 |
Spanish / German |
- |
- |
Lymphoma |
Colon cancer |
- |
- |
- |
- |
1 |
Silvina Sisterna-Hospital de Comunidad |
00002838 |
Spanish |
- |
- |
Colon cancer, Intestinal cancer, Uterine cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Silvina Sisterna-Hospital de Comunidad |
00002844 |
Latin |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MLH1 |
1 |
1 |
Guillermo Alberto-Instituto Fleming |
00002847 |
Italian |
- |
- |
Breast cancer, Ovarian cancer |
Breast cancer, Colon cancer, Multiple Myeloma |
- |
- |
BRIP1, RAD50 |
2 |
1 |
Guillermo Alberto-Instituto Fleming |
00002867 |
Italian - Argentinean |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Guillermo Alberto-Instituto Fleming |
00002876 |
Unknown |
- |
- |
Familial adenomatous polyposis |
Colon cancer, Polyposis, Thyroid cancer |
- |
- |
MUTYH |
2 |
1 |
Guillermo Alberto-Instituto Fleming |
00002896 |
Spanish - Italian |
- |
- |
Breast cancer, Colon cancer |
Breast cancer, Colon cancer, Endometrial cancer |
- |
- |
MSH2, MSH3 |
2 |
1 |
Guillermo Alberto-Instituto Fleming |
00002921 |
German / Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Angelucci Guillermina - Hospital Centeno |
00002928 |
Italian - Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Angelucci Guillermina - Hospital Centeno |
00002939 |
German - Italian |
- |
- |
Colon cancer, Polyposis |
Colon cancer, Polyposis |
- |
- |
ATM |
1 |
1 |
Guillermo Alberto-Instituto Fleming |
00002941 |
Argentinean - Spanish |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
- |
- |
1 |
Guillermo Alberto-Instituto Fleming |
00002953 |
Polish / Italian |
- |
- |
Colon cancer, Thyroid cancer |
Colon cancer, Thyroid cancer |
- |
- |
HOXB13, POLE, SMAD4 |
3 |
1 |
Guillermo Alberto-Instituto Fleming |
00002969 |
Italian - Argentinean - French Basque |
- |
- |
Colon cancer |
Colon cancer |
- |
- |
MSH6, RAD51D |
2 |
1 |
Guillermo Alberto-Instituto Fleming |
00002974 |
Italian - Latin american |
- |
- |
Bladder cancer, Colon cancer |
Bladder cancer, Colon cancer |
- |
- |
MSH2 |
1 |
1 |
Guillermo Alberto-Instituto Fleming |