Full data view for gene TP53

Information The variants shown are described using the transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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AscendingDNA change (cDNA)     

RNA change     

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Allele     

DNA change (genomic) (hg38)     

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+/+ 10 deletion exon 10 r.? p.? Hetero no - Unknown g.? - TP53_000027 - - DNA MLPA 01-07-23 Laboratorio Fares Taie TP53 y CHEK2 (exones 8, 10, 13) y 1100delC CHEK2. Sindrome Li.Fraumeni Specific pathology Lung cancer Spanish - - Gastric cancer 1 Silvina Sisterna-Hospital de Comunidad
?/? 2 c.47A>G r.(47a>g) p.(Gln16Arg) Hetero no - Unknown g.7676548T>C - TP53_000024 - - DNA SEQ-NG 24-may-2022 Genos Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer, Duodenal cancer, Gastric cancer, Melanoma Spanish/Spanish - - Colon cancer 1 Maria Laura Gonzalez-Hospital Italiano
-/-? 4 c.108G>A r.(=) p.(=) Hetero MLH1 - Unknown g.7676261C>T - TP53_000007 - - DNA SEQ-NG, z-score-CNV 2-aug-2017 Héritas Panel Héritas ovario(18 genes) ATM-BRIP-CDH1-CHEK2-DICER1-EPCAM-MLH1-MSH2-MSH6-MUTYH-NBN-PALB2-PMS2-PTEN-RAD51C-RAD51D-STK11-TP53 Multigenetic panel -- Spanish-Italian - - - 1 Gonzalo Tabares-CEMA
-/- 4 c.108G>A r.(=) p.(=) Hetero no RECLASSIFIED NOVEMBER 2020 Unknown g.7676261C>T - TP53_000007 - - 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
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_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
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 23-jun-2017 CEMIC - - -- Unknown - - - 1 Florencia Petracchi-CEMIC
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG, z-score-CNV 10-mar-2017 Héritas Panel Héritas (8 genes) Multigenetic panel - Not available - - - 1 Gonzalo Tabares-CEMA
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 12-jul-2017 CEMIC - - - Unknown - - - 1 Pablo Kalfayan-CEMIC
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 3-jan-2018 CEMIC Panel CEMIC - - Italian-Spanish - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel Breast cancer Spanish-Italian-German - - Breast cancer 1 Lina Nuñez-Private Practice
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo BRCA1 - Unknown g.7676154G>C - TP53_000001 - - DNA CNVs, SEQ-NG 14-mar-2019 IACA - Multigenetic panel Breast cancer, Osteosarcoma Italian-Spanish - (antec ambos/explica cuadro clínico) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 21-mar-2019 CEMIC - Multigenetic panel - Lithuanian - - - 1 Dolores Mansilla-Instituto Roffo
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo BRCA2 - Unknown g.7676154G>C - TP53_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
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero BRCA2 - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 4-aug-2019 CEMIC - Multigenetic panel Breast cancer Spanish-Italian - - Breast cancer, Prostate cancer 1 Claudia Martin-Hospital de Córdoba
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 25-mar-2019 CEMIC - Multigenetic panel - Syrian-Basque-Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 25-nov-2019 CEMIC - Multigenetic panel - Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_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
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 9-dec-2019 IACA - Multigenetic panel Breast cancer Italian-Spanish - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 15-apr-2019 IACA - Multigenetic panel Breast cancer Spanish-Italian-French - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 6-dec-2019 IACA Panel (ATM, BRCA1, BRCA2, BARD1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, STK11, TP53) Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 29-jul-2019 IACA - Multigenetic panel Breast cancer Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_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
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 28-mar-2018 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53) Multigenetic panel Breast cancer Argentinian - - Breast cancer, Colon cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_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
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_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
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 7-may-2019 IACA - Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_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
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 18-jun-2019 IACA - Multigenetic panel - Italian-Argentinian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_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
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified ATM - Unknown g.7676154G>C - TP53_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
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified ATM - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 27-dec-2019 IACA - Multigenetic panel Breast cancer, Schwanoma Italian - (antec ambos/explica cuadro) Breast cancer, Melanoma 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_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
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 24-sep-2019 IACA - Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 16-aug-2019 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) Multigenetic panel Breast cancer, Kidney cancer Spanish-Italian - - Breast cancer, Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 24-apr-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.215C>G r.(?) p.(Pro72Arg) Not specified no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 21-oct-2019 IACA - Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 7-may-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 9-sep-2019 CEMIC - Multigenetic panel - Spanish - - - 1 Dolores Mansilla-Instituto Roffo
./- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_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
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 5-jul-2017 Héritas - Multigenetic panel - Argentinian - - - 1 Laura Vargas Roig-IMBECU
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 4-may-2020 Domeq&, Lafage - Multigenetic panel Breast cancer, Thyroid cancer Italian - - Breast cancer, Thyroid cancer 1 Lina Nuñez-Hospital Alemán
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 25-sep-2019 CEMIC - Multigenetic panel - Argentinian - - - 1 Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 10-oct-2019 Domeq&, Lafage - Multigenetic panel - Caucasian - - - 1 Erika Stegmayer-CIOC
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 13-apr-2020 CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_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
./- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_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
./- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_000001 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero BRCA2 - Unknown g.7676154G>C - TP53_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
./- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_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
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Homo no - Unknown g.7676154G>C - TP53_000001 - - DNA SEQ-NG 3-oct-2019 CEMIC - Multigenetic panel - Italian - - - 1 Dolores Mansilla-Instituto Roffo
-/- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_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
./- 4 c.215C>G r.(?) p.(Pro72Arg) Hetero no - Unknown g.7676154G>C - TP53_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
+/+ 4 c.216_219dup r.(216_219dup) p.(Ala74Argfs*76) Hetero LZTR1 - Unknown g.7676150_7676153dup - TP53_000023 - - DNA SEQ 01-jun-2022 CIBIC Analisis de variante conocida mediante sanger. NM_0000546.6:c.216_219dup, NP_000537.3:p.Ala74ArgfsTer76 TP53, NM_006767.4:c.2473_2477del, NP_006758.2:p.Ala825ProfsTer24 LZTR1 Specific pathology -- Italian/Spanish - - - 1 Norma Rossi - Fundacion Para el Progreso de la Medicina
?/-? 4 c.245C>T r.(?) p.(Pro82Leu) Hetero no - Unknown g.7676124G>A - TP53_000016 - - DNA SEQ-NG 23-mar-2021 Invitae Panel Invitae Multi-cáncer Multigenetic panel Colon cancer Italian - - Colon cancer 1 Jesica Ramirez-Hospital Central de Mendoza
+/+ 4 c.365_366del r.(?) p.(Val122Aspfs*26) Hetero N/A - Unknown g.7676003_7676004del - TP53_000021 - - DNA SEQ-NG 12-oct-2021 Hospital Privado Centro Médico de Córdoba Panel Cancer Hereditario (30 genes) ATM BARD1 BRCA1 BRCA2 BRIP1 CDC73 CDH1 CHECK2 DICER1 EPCAM FANCC FANCM MLH1 MSH2 MSH6 MUTYH NBN NF1 NF2 PALB2 PMS2 POLD1 PTEN RAD50 RAD51C RAD51D SDHB SDHD STK11 TP53 Multigenetic panel Breast cancer Argentinian - - Breast cancer 1 Claudia Martin-Hospital de Córdoba
?/- 4i c.376-91G>A r.(=) p.(=) Homo no - Unknown g.7675327C>T - TP53_000002 - - DNA SEQ-NG 23-jun-2017 CEMIC - - -- Unknown - - - 1 Florencia Petracchi-CEMIC
?/- 4i c.376-91G>A r.(=) p.(=) Homo no - Unknown g.7675327C>T - TP53_000002 - - DNA SEQ-NG 12-jul-2017 CEMIC - - - Unknown - - - 1 Pablo Kalfayan-CEMIC
+/+ 5 c.422G>A r.(?) p.(Cys141Tyr) Hetero N/A - Unknown g.7675190C>T - TP53_000018 - - DNA SEQ-NG 27-jan-2021 Fares Taie Panel Mama y ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, FACM, FANCC, MLH1, MRE11A,MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL4, RINT1, SMARCA4,STK11, TP53, XRCC2.1. Multigenetic panel Breast cancer Italian - - Breast cancer, Esophagus cancer 1 Silvina Sisterna-Hospital de Comunidad
+?/+? 5 c.428T>C r.(?) p.(Val143Ala) Hetero no - Unknown g.7675184A>G - TP53_000014 - - DNA CNV, SEQ-NG 24-jan-2019 Héritas Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, EPCAM) Multigenetic panel - Austrian - (antec ambos/explica cuadro) - 1 Laura Vargas Roig-IMBECU
?/? 6 c.572C>G r.(572c>g) p.Pro191Arg Hetero no - Unknown g.7674959G>C - TP53_000026 rs587778718 - DNA SEQ-NG 23-09-21 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Panel (10 genes) ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, STK11, TP53 Multigenetic panel Breast cancer European - - Breast cancer 1 Erika Stegmayer-CIOC
?/+? 6 c.587G>A r.(?) p.(Arg196Gln) Hetero no RECLASSIFIED JULY 2022 Unknown g.7674944C>T - TP53_000004 - - DNA SEQ-NG, CNV 24-oct-2017 Genesia - Progenitest, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel - Italian-Argentinian - - - 1 Vanesa Lotersztein-Genesia/Progenitest
-/- 6 c.639A>G r.(=) p.(=) Hetero no - Unknown g.7674892T>C - TP53_000009 - - DNA SEQ-NG 21-sep-2017 Héritas Panel Héritas (12 genes) - - Spanish - - - 1 Laura Vargas Roig-IMBECU
-/- 6 c.639A>G r.(=) p.(=) Hetero no - Unknown g.7674892T>C - TP53_000009 - - 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
-/- 6 c.639A>G r.(=) p.(=) Hetero no - Unknown g.7674892T>C - TP53_000009 - - DNA SEQ 9-jan-2020 CeNaGeM - Specific pathology Endometrial cancer, Ovarian cancer Italian-Spanish - - Breast cancer, Colon cancer, Endometrial cancer, Ovarian cancer, Prostate cancer 1 Lina Nuñez-Hospital Alemán
-/- 6 c.639A>G r.(=) p.(=) Hetero no - Unknown g.7674892T>C - TP53_000009 - - DNA SEQ-NG 13-apr-2020 CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 6 c.639A>G r.(=) p.(=) Hetero no - Unknown g.7674892T>C - TP53_000009 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
+/+ 6 c.652delG r.(?) p.(Val218Cysfs*29) Hetero PALB2 - Unknown g.7674879delC - TP53_000019 - - DNA SEQ-NG 29-oct-2020 Biogenotec Panel Cáncer de mama y ovario DE 14 GENES (ATM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, NBN,PALB2, PMS2, PTEN, STK11, TP53) Multigenetic panel - Spanish; Spanish - - - 1 Alejandra Mampel-COIR
-/-? 6 c.666G>A r.(=) p.(=) Hetero no - Unknown g.7674865C>T - TP53_000015 - - DNA SEQ-NG 13-apr-2020 CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 6i c.672+62A>G r.(=) p.(=) Homo no - Unknown g.7674797T>C - TP53_000003 - - DNA SEQ-NG 23-jun-2017 CEMIC - - -- Unknown - - - 1 Florencia Petracchi-CEMIC
-/- 6i c.672+62A>G r.(=) p.(=) Homo no - Unknown g.7674797T>C - TP53_000003 - - DNA SEQ-NG 12-jul-2017 CEMIC - - - Unknown - - - 1 Pablo Kalfayan-CEMIC
+/+ 7 c.742C>T r.(?) p.(Arg248Trp) Hetero N/A - Unknown g.7674221G>A - TP53_000020 - - DNA SEQ-NG 24-jan-2020 Hospital Privado Centro Médico de Córdoba Panel Cancer mama y Ovario (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, TP57 Multigenetic panel -- Italian/Italian:Italian/French - - - 1 Cecilia Montes-IMGO
+/+ 7 c.743G>A r.(?) p.(Arg248Gln) Hetero N/A - Unknown g.7674220C>T - TP53_000005 - - DNA SEQ-NG 9-oct-2017 GENDA, Blueprint Genetics Hereditary Pediatric Cancer Panel Plus (52 Genes) Multigenetic panel Medulloblastoma Spanish-Italian-Argentinian - - Medulloblastoma 1 Claudia Martin-Hospital de Córdoba
?/? 7 c.776A>G r.(?) p.(Asp259Gly) Hetero no - Unknown g.7674187T>C - TP53_000011 - - DNA SEQ-NG 1-aug-2018 GENDA, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel Breast cancer, Gliosarcoma French-Basque-German-Turkish - - Breast cancer, Gliosarcoma 1 Lina Nuñez-Private Practice
+?/+? 8 c.799C>T r.(?) p.(Arg267Trp) Hetero no - Unknown g.7673821G>A - TP53_000013 - - DNA CNV, SEQ-NG 21-oct-2019 Color (deriv. Genda) Hereditary Cancer Risk Test (30 genes) Multigenetic panel Melanoma Spanish-Italian-Argentinian - (antec ambos/explica cuadro) Breast cancer, Melanoma 1 Lina Nuñez-Private Practice
+/+ 8 c.814G>A r.(814g>a) p.(Val272Met) Hetero N/A - Unknown g.7673806C>T - TP53_000025 - - DNA SEQ-NG 19-aug-2022 Genia Detección de mutación familiar específica en el gen TP53 Germline variant found in somatic testing Peritoneal cancer Armenian/Armenian - - Ovarian cancer 1 Pablo Kalfayan-Hospital Italiano
+/+ 8 c.814G>A r.(814g>a) p.(Val272Met) Hetero N/A - Unknown g.7673806C>T - TP53_000025 - possibly mosaic DNA SEQ-NG 21-mar-2022 Genia/Invitae Panel de genes para cancer de mama y ginecologicos (22 genes) ATM*, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1*, EPCAM*, MLH1*, MSH2*, MSH6*, NBN, NF1*, PALB2, PMS2*, PTEN*, RAD51C, RAD51D, SMARCA4, STK11, TP53 Multigenetic panel Peritoneal cancer Armenian/Armenian - - Ovarian cancer 1 Pablo Kalfayan-Hospital Italiano
+/+ 8 c.863del r.(863del) p.(Asn288Ilefs*57) Hetero CDKN2A - Unknown g.7673758del - TP53_000022 - - DNA SEQ-NG 29-mar-2021 Invitae Invitae Multi-cancer panel (85 genes) Multigenetic panel -- Italian/Italian - - - 1 Cecilia Montes-IMGO
+/+ 8 c.863del r.(863del) p.(Asn288Ilefs*57) Hetero N/A - Unknown g.7673758del - TP53_000022 - - DNA SEQ 13-jul-2021 Invitae Analisis de variantes en TP53, TERT y CDKN2A (p16INK4a) Known familial mutation -- Italian/Italian - - - 1 Cecilia Montes-IMGO
+/+ 8 c.912dup r.(?) p.(Lys305*) Hetero N/A RECLASSIFIED NOVEMBER 2020 Unknown g.7673708dup - TP53_000008 - - DNA SEQ-NG 28-nov-2017 Color Hereditary Cancer Risk Test (30 genes) Multigenetic panel - Spanish - - - 1 Norma Rossi-Hospital de Córdoba
?/- 9i c.993+352C>T r.(=) p.(=) Hetero no RECLASSIFIED JULY 2022 Unknown g.7673183G>A - TP53_000010 - - DNA SEQ-NG 12-jul-2017 CEMIC - - - Unknown - - - 1 Pablo Kalfayan-CEMIC
+?/+? 10 c.1010G>C r.(?) p.(Arg337Pro) Hetero N/A - Unknown g.7670699C>G - TP53_000012 - - DNA SEQ-NG, CNV 20-dec-2018 GENDA, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel Breast cancer Bolivian - - Breast cancer 1 Jesica Ramirez-Hospital Central de Mendoza
?/-? 10 c.1066G>C r.(?) p.(Gly356Arg) Hetero no - Unknown g.7670643C>G - TP53_000017 - - DNA SEQ-NG 26-jan-2021 IACA Panel IACA Colon hereditario (24 genes) AXIN2, APC, BMPR1A, CDKN1B, CDH1, CHEK2, EPCAM,GREM1, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, PTEN, POLE, POLD1,SMAD4, SDHA,SDHB, SDHC, SDHD, STK11, TP53. Multigenetic panel Colon cancer Italian - - Colon cancer, Prostate cancer 1 Silvina Sisterna-Hospital de Comunidad
?/-? 10 c.1066G>C r.(1066g>c) p.(Gly356Arg) Hetero no - Unknown g.7670643C>G - TP53_000017 - - DNA SEQ-NG 24-06-20 Genos/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 Chilean/Jewish-Ukranian/Ashkenazi - - Breast cancer, Colon cancer, Melanoma 1 Lina Nuñez-Hospital Alemán
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