Hereditary Breast Ovarian Cancer Syndrome(Familial susceptibility to Breast-Ovarian cancer) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cancer disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Cancer disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | 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 |
| 2 | 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 |
| 3 | 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 |
| 4 | RAD51B/5890 | RAD51 paralog B | 14q24.1 | Chr14, NC_000014.9 (67819779..68683096) |
863318 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | 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 |
| 6 | ABRAXAS1/84142 | abraxas 1, BRCA1 A complex subunit | 4q21.23 | Chr4, NC_000004.12 (83459517..83485100, complement) |
25584 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | NBN/4683 | nibrin | 8q21.3 | Chr8, NC_000008.11 (89933331..89984667, complement) |
51337 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | 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 |
| 9 | 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 |
| 10 | 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 |
| 11 | 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 |
| 12 | FANCM/57697 | FA complementation group M | 14q21.2 | Chr14, NC_000014.9 (45135930..45200890) |
64961 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | XRCC2/7516 | X-ray repair cross complementing 2 | 7q36.1 | Chr7, NC_000007.14 (152644776..152676141, complement) |
31366 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | VRK1/7443 | VRK serine/threonine kinase 1 | 14q32.2 | Chr14, NC_000014.9 (96797382..96881609) |
84228 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | FAN1/22909 | FANCD2 and FANCI associated nuclease 1 | 15q13.3 | Chr15, NC_000015.10 (30903852..30943108) |
39257 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | NF1/4763 | neurofibromin 1 | 17q11.2 | Chr17, NC_000017.11 (31094927..31377677) |
282751 nt | 58 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | MSH2/4436 | mutS homolog 2 | 2p21 | Chr2, NC_000002.12 (47403067..47709830) |
306764 nt | 46 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | MLH1/4292 | mutL homolog 1 | 3p22.2 | Chr3, NC_000003.12 (36993466..37050846) |
57381 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | RAD50/10111 | RAD50 double strand break repair protein | 5q31.1 | Chr5, NC_000005.10 (132556977..132646349) |
89373 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | RINT1/60561 | RAD50 interactor 1 | 7q22.3 | Chr7, NC_000007.14 (105532201..105567677) |
35477 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | RECQL/5965 | RecQ like helicase | 12p12.1 | Chr12, NC_000012.12 (21468910..21501635, complement) |
32726 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | BLM/641 | BLM RecQ like helicase | 15q26.1 | Chr15, NC_000015.10 (90717346..90816166) |
98821 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | RAD51C/5889 | RAD51 paralog C | 17q22 | Chr17, NC_000017.11 (58692573..58735611) |
43039 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | EXO1/9156 | exonuclease 1 | 1q43 | Chr1, NC_000001.11 (241847986..241889939) |
41954 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | MUTYH/4595 | mutY DNA glycosylase | 1p34.1 | Chr1, NC_000001.11 (45329242..45340440, complement) |
11199 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | RAD54L/8438 | RAD54 like | 1p34.1 | Chr1, NC_000001.11 (46247688..46278473) |
30786 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 27 | CTNNA2/1496 | catenin alpha 2 | 2p12 | Chr2, NC_000002.12 (79185377..80648780) |
1463404 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 28 | MITF/4286 | melanocyte inducing transcription factor | 3p13 | Chr3, NC_000003.12 (69739464..69968332) |
228869 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 29 | SLC34A2/10568 | solute carrier family 34 member 2 | 4p15.2 | Chr4, NC_000004.12 (25655851..25678748) |
22898 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 30 | CTNNA1/1495 | catenin alpha 1 | 5q31.2 | Chr5, NC_000005.10 (138753425..138935034) |
181610 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 31 | DROSHA/29102 | drosha ribonuclease III | 5p13.3 | Chr5, NC_000005.10 (31400494..31532093, complement) |
131600 nt | 36 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 32 | PLK2/10769 | polo like kinase 2 | 5q11.2 | Chr5, NC_000005.10 (58453982..58460086, complement) |
6105 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 33 | RIPK1/8737 | receptor interacting serine/threonine kinase 1 | 6p25.2 | Chr6, NC_000006.12 (3063967..3115187) |
51221 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 34 | PTCH1/5727 | patched 1 | 9q22.32 | Chr9, NC_000009.12 (95442980..95516971, complement) |
73992 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 35 | ERCC6/2074 | ERCC excision repair 6, chromatin remodeling factor | 10q11.23 | Chr10, NC_000010.11 (49434881..49539538, complement) |
104658 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 36 | KRAS/3845 | KRAS proto-oncogene, GTPase | 12p12.1 | Chr12, NC_000012.12 (25205246..25250929, complement) |
45684 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 37 | LCP1/3936 | lymphocyte cytosolic protein 1 | 13q14.13 | Chr13, NC_000013.11 (46125923..46182177, complement) |
56255 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 38 | HERPUD1/9709 | homocysteine inducible ER protein with ubiquitin like domain 1 | 16q13 | Chr16, NC_000016.10 (56932142..56944864) |
12723 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 39 | BCAR1/9564 | BCAR1 scaffold protein, Cas family member | 16q23.1 | Chr16, NC_000016.10 (75228181..75268007, complement) |
39827 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 40 | FLCN/201163 | folliculin | 17p11.2 | Chr17, NC_000017.11 (17212212..17237330, complement) |
25119 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 41 | FLNA/2316 | filamin A | Xq28 | ChrX, NC_000023.11 (154348531..154374634, complement) |
26104 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 42 | 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 |
| 43 | FANCD2/2177 | FA complementation group D2 | 3p25.3 | Chr3, NC_000003.12 (10026437..10101932) |
75496 nt | 45 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 44 | PNPT1/87178 | polyribonucleotide nucleotidyltransferase 1 | 2p16.1 | Chr2, NC_000002.12 (55634061..55693844, complement) |
59784 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |