Familial Cancer Of Breast(Hereditary breast carcinoma)
An Autosomal dominant mode(s) within the Cancer disorders category
An Autosomal dominant mode(s) within the Cancer disorders category
Reported Pathogenic variants
Candidate Gene Information
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ATM/472 | ATM serine/threonine kinase | 11q22.3 | Chr11, NC_000011.10 (108223067..108369102) |
146036 nt | 67 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | RAD51/5888 | RAD51 recombinase | 15q15.1 | Chr15, NC_000015.10 (40694733..40732340) |
37608 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | BRCA2/675 | BRCA2 DNA repair associated | 13q13.1 | Chr13, NC_000013.11 (32315508..32400268) |
84761 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | BRCA1/672 | BRCA1 DNA repair associated | 17q21.31 | Chr17, NC_000017.11 (43044295..43170327, complement) |
126033 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | PALB2/79728 | partner and localizer of BRCA2 | 16p12.2 | Chr16, NC_000016.10 (23603165..23641310, complement) |
38146 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | BARD1/580 | BRCA1 associated RING domain 1 | 2q35 | Chr2, NC_000002.12 (214725646..214809683, complement) |
84038 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | CHEK2/11200 | checkpoint kinase 2 | 22q12.1 | Chr22, NC_000022.11 (28687743..28741834, complement) |
54092 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | BRIP1/83990 | BRCA1 interacting helicase 1 | 17q23.2 | Chr17, NC_000017.11 (61679139..61863528, complement) |
184390 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | PIK3CA/5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 3q26.32 | Chr3, NC_000003.12 (179148126..179240093) |
91968 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | CDH1/999 | cadherin 1 | 16q22.1 | Chr16, NC_000016.10 (68737292..68835537) |
98246 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | PPM1D/8493 | protein phosphatase, Mg2+/Mn2+ dependent 1D | 17q23.2 | Chr17, NC_000017.11 (60600193..60666280) |
66088 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | TP53/7157 | tumor protein p53 | 17p13.1 | Chr17, NC_000017.11 (7668421..7687490, complement) |
19070 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | AKT1/207 | AKT serine/threonine kinase 1 | 14q32.33 | Chr14, NC_000014.9 (104769349..104795748, complement) |
26400 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | RB1CC1/9821 | RB1 inducible coiled-coil 1 | 8q11 | Chr8, NC_000008.11 (52622458..52714435, complement) |
91978 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | RAD51D/5892 | RAD51 paralog D | 17q12 | Chr17, NC_000017.11 (35092221..35119860, complement) |
27640 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | PTEN/5728 | phosphatase and tensin homolog | 10q23.31 | Chr10, NC_000010.11 (87863625..87971930) |
108306 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | PTCH2/8643 | patched 2 | 1p34.1 | Chr1, NC_000001.11 (44819845..44843253, complement) |
23409 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | RAD54L/8438 | RAD54 like | 1p34.1 | Chr1, NC_000001.11 (46247688..46278473) |
30786 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | ZNF462/58499 | zinc finger protein 462 | 9q31.2 | Chr9, NC_000009.12 (106860158..107013634) |
153477 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||