Belgian Genetic Tests database- Diseases
- Hereditary breast cancer
Hereditary breast cancer
| Name: |
Hereditary breast cancer
|
| Description: |
A rare genetic, malignant breast tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of BRCA1 and BRCA2 mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most BRCA1-associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, BRCA2-associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar. They show a low frequency of HER-2 expression.
|
| ORPHAcode: |
227535
|
| Synonyms: |
Familial breast cancer
Familial breast carcinoma
Hereditary breast carcinoma
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|
- Breast and Ovarian Cancer, HBOC, Familial (gene panel)
- Breast and Ovarian Cancer, HBOC, Hereditary
- Breast and Ovarian Cancer, hereditary, HBOC, Familial (gene panel)
- Breast and Ovarian cancer, HBOC, familial (gene panel - 17 genes)
- Breast cancer, hereditary (gene panel)
- Germline analysis of BRCA1/2 for iPARP treatment
- Hereditary Breast and Ovarian Cancer, HBOC (13 genes)
- Hereditary cancer (Breast, ovary, colon) (26 genes)
- Hereditary cancer (gene panel)
- Hereditary cancer panel (gene panel)
- Centre de Génétique Humaine - CHU Sart-Tilman
- Centre de Génétique Humaine - Erasme ULB
- Centre de Génétique Médicale UCL
- Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
- Centrum Medische Genetica - UZ Antwerpen
- Centrum Medische Genetica - UZ Brussel VUB
- Centrum Medische Genetica - UZ Gent
- Centrum Menselijke Erfelijkheid - KUL
-
Extended Breast Cancer Panel (26 gene) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATM 100.00 1 No comment BARD1 100.00 1 No comment BLM 100.00 1 No comment BRCA1 100.00 1 No comment BRCA2 100.00 1 No comment BRIP1 100.00 1 No comment CDH1 100.00 1 No comment CHEK2 100.00 1 No comment EPCAM 100.00 1 No comment ABRAXAS1 100.00 1 No comment MEN1 100.00 1 No comment MLH1 100.00 1 No comment MRE11 100.00 1 No comment MSH2 100.00 1 No comment MSH6 100.00 1 No comment MUTYH 100.00 1 No comment NBN 100.00 1 No comment PALB2 100.00 1 No comment PMS2 100.00 1 No comment PTEN 100.00 1 No comment RAD50 100.00 1 No comment RAD51C 100.00 1 No comment RAD51D 100.00 1 No comment STK11 100.00 1 No comment TP53 100.00 1 No comment XRCC2 100.00 1 No comment -
Breast cancer, hereditary (13 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 1 CNV assessed by MLPA BRCA2 100.00 1 CNV assessed by MLPA TP53 100.00 1 CNV assessed by MLPA (on demand) PALB2 100.00 0 CHEK2 100.00 0 BARD1 100.00 0 ATM 100.00 0 MLH1 100.00 1 CNV assessed by MLPA (on demand) MSH2 100.00 1 CNV assessed by MLPA (on demand) MSH6 100.00 1 CNV assessed by MLPA (on demand) BRIP1 100.00 0 RAD51C 100.00 0 RAD51D 100.00 0 -
Breast/ ovarian cancer (15 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments RAD51C 100.00 1 RAD51D 100.00 1 BRCA1 100.00 1 BRCA2 100.00 1 TP53 100.00 1 CHEK2 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 BRIP1 100.00 1 ATM 100.00 1 PALB2 100.00 1 CDH1 100.00 1 BARD1 100.00 1 PTEN 100.00 1 -
Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABRAXAS1 ATM BARD1 BRCA1 BRCA2 BLM BRIP1 CDH1 CHEK2 EPCAM MEN1 MLH1 MRE11 MSH2 MSH6 MUTYH NBN PALB2 PMS2 PTEN RAD50 RAD51C RAD51D STK11 TP53 XRCC2 -
Germline analysis of BRCA1/2 for iPARP treatment
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 1 BRCA2 100.00 1 -
Hereditary Cancer Solution (35 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 ISO15189 ATM 100.00 1 ISO15189 BAP1 100.00 1 ISO15189 BARD1 100.00 1 ISO15189 BMPR1A 100.00 1 ISO15189 BRCA1 100.00 1 ISO15189 BRCA2 100.00 1 ISO15189 BRIP1 100.00 1 ISO15189 CDH1 100.00 1 ISO15189 CDKN2A 100.00 1 ISO15189 CHEK2 100.00 1 ISO15189 EPCAM 100.00 1 ISO15189 GREM1 100.00 1 ISO15189 MLH1 100.00 1 ISO15189 MRE11 100.00 1 ISO15189 MSH2 100.00 1 ISO15189 MSH3 100.00 1 ISO15189 MSH6 100.00 1 ISO15189 MUTYH 100.00 1 ISO15189 NBN 100.00 1 ISO15189 NTHL1 100.00 1 ISO15189 PALB2 100.00 1 ISO15189 PIK3CA 100.00 1 ISO15189 PMS2 100.00 1 ISO15189 POLD1 100.00 1 ISO15189 POLE 100.00 1 ISO15189 PTEN 100.00 1 ISO15189 RAD50 100.00 1 ISO15189 RAD51C 100.00 1 ISO15189 RAD51D 100.00 1 ISO15189 SCG5 100.00 1 ISO15189 SMAD4 100.00 1 ISO15189 STK11 100.00 1 ISO15189 TP53 100.00 1 ISO15189 XRCC2 100.00 1 ISO15189 -
Hereditary predisposition to cancer (47 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 NM_000038.6 ATM 100.00 1 NM_000051.3 BAP1 100.00 1 NM_004656.4 BARD1 100.00 1 NM_000465.4 BMPR1A 100.00 1 NM_004329.3 BRCA1 100.00 1 NM_007294.4 BRCA2 100.00 1 NM_000059.3 BRIP1 100.00 1 NM_032043.3 CDH1 100.00 1 NM_004360.5 CDKN1B 100.00 1 NM_004064.4 CDKN2A 100.00 1 NM_001195132.1 CHEK2 100.00 1 NM_007194.4 EPCAM 100.00 1 NM_002354.3 GATA2 100.00 1 NM_032638.5 GREM1 100.00 1 NM_013372.7 MEN1 100.00 1 NM_001370259.2 MLH1 100.00 1 NM_000249.4 MSH2 100.00 1 NM_000251.3 MSH3 100.00 1 NM_002439.5 MSH6 100.00 1 NM_000179.3 MUTYH 100.00 1 NM_001128425.2 NBN 100.00 1 NM_002485.5 NTHL1 100.00 1 NM_002528.7 PALB2 100.00 1 NM_024675.4 PIK3CA 100.00 1 NM_006218.4 PMS2 100.00 1 NM_000535.7 POLD1 100.00 1 NM_002691.4 POLE 100.00 1 NM_006231.4 PTEN 100.00 1 NM_000314.8 RAD50 100.00 1 NM_005732.4 RAD51C 100.00 1 NM_058216.3 RAD51D 100.00 1 NM_002878.3 RPS20 100.00 1 NM_001146227.2 SCG5 100.00 1 NM_001144757.2 SMAD4 100.00 1 NM_005359.6 STK11 100.00 1 NM_000455.5 TP53 100.00 1 NM_000546.5 WWP1 100.00 1 NM_007013.4 AXIN2 100.00 1 NM_004655.4 CDK4 100.00 1 NM_000075.4 DICER1 100.00 1 NM_030621.4 HOXB13 100.00 1 NM_006361.6 NF1 100.00 1 NM_001042492.3 POT1 100.00 1 NM_015450.3 PTCH1 100.00 1 NM_000264.5 RB1 100.00 1 NM_000321.2 RET 100.00 1 NM_020975.6