Cáncer de mama hereditario
El cáncer de mama es la neoplasia maligna más común entre las mujeres y la segunda causa más común de muerte por una enfermedad neoplásica que afecta a las mujeres.

El Panel de Precisión de Cáncer de Mama Hereditario Igenomix está indicado en aquellos casos en los que existan:
La utilidad clínica de este panel es:
Lista de genes incluidos en el Panel de precisión del cáncer de mama hereditario.
Los genes más relevantes se han clasificado según:
Alto riesgo |
Bien estudiado
|
|
Riesgo mayor de 4 veces de desarrollar uno o más cánceres
|
|
Puede causar un riesgo moderado de otros cánceres.
|
|
Directrices u opinión de expertos para la detección y la prevención del cáncer
|
Riesgo moderado |
Bien estudiado
|
|
Riesgo de 2 a 4 veces mayor de desarrollar uno o más cánceres
|
|
Puede aumentar el riesgo de otros cánceres
|
|
Directrices limitadas para la detección y la prevención
|
Investigar |
No tan bien estudiado
|
|
Los riesgos precisos de por vida y el espectro tumoral aún no se han determinado
|
|
Las pautas para la detección y la prevención son limitadas o no están disponibles
|
GENE |
RISK |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
AKT1 |
|
Breast Cancer, Colorectal Cancer, Cowden Syndrome, Meningioma, Proteus Syndrome |
AD |
100% |
6 of 6 |
ATM |
Moderate risk |
Ataxia-Telangiectasia, Breast Cancer, Mantle Cell Lymphoma |
AD,AR |
99.93% |
1608 of 1632 |
BARD1 |
Moderate risk |
Breast Cancer, Hereditary Breast And Ovarian Cancer Syndrome |
AD |
99.86% |
195 of 195 |
BRCA1 |
High risk |
Breast Cancer, Familial Breast-Ovarian Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group S, Hereditary Breast And Ovarian Cancer Syndrome, Primary Peritoneal Carcinoma |
AD,AR,MU |
98.97% |
2783 of 2894 |
BRCA2 |
High risk |
Breast Cancer, Familial Breast-Ovarian Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group D1, Glioma, Hereditary Breast And Ovarian Cancer Syndrome, Medulloblastoma, Nephroblastoma, Pancreatic Cancer, Prostate Cancer, Wilms Tumor |
AD,AR,MU |
98.51% |
3343 of 3451 |
BRE |
|
Brain Glioma, Synchronous Bilateral Breast Carcinoma |
|
98.20% |
NA of NA |
BRIP1 |
Moderate risk |
Breast Cancer, Fanconi Anemia Complementation Group J, Hereditary Breast And Ovarian Cancer Syndrome |
AD,AR |
94.97% |
235 of 237 |
CDH1 |
High risk |
Blepharo-Cheilo-Odontic Syndrome, Breast Cancer, Cleft Lip/Palate, Endometrial Carcinoma, Gastric Cancer, Prostate Cancer |
AD |
100% |
361 of 363 |
CHEK2 |
Moderate risk |
Breast Cancer, Hereditary Breast And Ovarian Cancer Syndrome, Li-Fraumeni Syndrome, Osteosarcoma, Prostate Cancer |
AD |
99.47% |
307 of 310 |
EPCAM |
|
Hereditary Nonpolyposis Colorectal Cancer Type 8, Congenital Diarrhea With Tufting Enteropathy, Lynch Syndrome |
AR |
99.94% |
52 of 70 |
FAM175A |
Moderate risk |
Ovarian Cancer, Breast Cancer, Fanconi Anemia Complementation Group A |
– |
94.81% |
NA of NA |
FANCC |
|
Fanconi Anemia Complementation Group C |
AR |
100% |
75 of 75 |
FANCM |
|
Fanconi Anemia, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation, Premature Ovarian Failure; Spermatogenic Failure |
AR |
99.73% |
59 of 61 |
GEN1 |
|
Xeroderma Pigmentosum Complementation Group G |
– |
99.71% |
6 of 6 |
MEN1 |
|
Familial Isolated Hyperparathyroidism, Insulinoma, Multiple Endocrine Neoplasia Type 1, Pituitary Gigantism, Prolactinoma |
AD |
99.90% |
871 of 876 |
MLH1 |
|
Hereditary Nonpolyposis Colorectal Cancer Type 2, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome |
AD,AR |
99.94% |
1079 of 1118 |
MRE11 |
Moderate risk |
Ataxia-Telangiectasia-Like Disorder, Hereditary Breast And Ovarian Cancer Syndrome |
AR |
99.95% |
NA of NA |
MSH2 |
|
Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome |
AD,AR |
99.99% |
1032 of 1057 |
MSH6 |
|
Hereditary Nonpolyposis Colorectal Cancer Type 5, Endometrial Carcinoma, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome |
AD,AR |
99.28% |
613 of 641 |
MUTYH |
|
Familial Adenomatous Polyposis, Gastric Cancer, MUTYH-Related Attenuated Familial Adenomatous Polyposis |
AR |
100% |
183 of 183 |
NBN |
Moderate risk |
Aplastic Anemia, Hereditary Breast And Ovarian Cancer Syndrome, Acute Lymphocytic Leukemia, Nijmegen Breakage Syndrome |
AR,MU,P |
100% |
200 of 200 |
NF1 |
|
17q11.2 Microduplication Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Juvenile Myelomonocytic Leukemia, Neurofibromatosis Type 1, Neurofibromatosis-Noonan Syndrome, Familial Spinal Neurofibromatosis Type I, Watson Syndrome |
AD |
97.97% |
3082 of 3166 |
PALB2 |
|
Breast Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group N, Hereditary Breast And Ovarian Cancer Syndrome |
AD,AR |
98.78% |
601 of 617 |
PIK3CA |
|
Breast Cancer, Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs And Partial/Generalized Overgrowth, Colorectal Cancer, Congenital Lipomatous Overgrowth, Vascular Malformations And Epidermal Nevi, Cowden Syndrome, Gastric Cancer, Hemihyperplasia-Multiple Lipomatosis Syndrome, Hepatocellular Carcinoma, Seborrheic Keratosis, Lung Cancer, Lynch Syndrome, Macrocephaly-Capillary Malformation, Meningioma |
AD |
99.58% |
54 of 58 |
PMS2 |
|
Hereditary Nonpolyposis Colorectal Cancer Type 4, Lynch Syndrome, Mismatch Repair Cancer Syndrome |
AD,AR |
97.17% |
264 of 285 |
PTEN |
High risk |
Bannayan-Riley-Ruvalcaba Syndrome, Cowden Disease, Hereditary Breast And Ovarian Cancer Syndrome, Juvenile Polyposis Of Infancy, Lhermitte-Duclos Disease, Macrocephaly/Autism Syndrome, Familial Meningioma, Prostate Cancer, Proteus Syndrome, Proteus-Like Syndrome, Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
AD |
99.97% |
609 of 629 |
RAD50 |
Moderate risk |
Hereditary Breast And Ovarian Cancer Syndrome, Nijmegen Breakage Syndrome-like Disorder |
AR |
99.94% |
117 of 120 |
RAD51C |
Moderate risk |
Familial Breast-Ovarian Cancer, Fanconi Anemia Complementation Group O, Hereditary Breast And Ovarian Cancer Syndrome |
AR |
100% |
130 of 130 |
RAD51D |
Moderate risk |
Hereditary Breast And Ovarian Cancer Syndrome |
– |
100% |
97 of 97 |
RECQL |
|
Inherited Cancer-Predisposing Syndrome |
– |
99.71% |
32 of 34 |
RINT1 |
|
Infantile Liver Failure Syndrome |
AR |
99.96% |
16 of 16 |
STK11 |
High risk |
Pancreatic Cancer, Peutz-Jeghers Syndrome, Testicular tumor |
AD |
81.99% |
456 of 470 |
TP53 |
High risk |
Adrenocortical Carcinoma, Basal Cell Carcinoma, Bone Marrow Failure Syndrome, Breast Cancer, Colorectal Cancer, Essential Thrombocythemia, Familial Pancreatic Carcinoma, Glioma, Hepatocellular Carcinoma, Hereditary Breast And Ovarian Cancer Syndrome, Li-Fraumeni Syndrome, Nasopharyngeal Carcinoma, Osteosarcoma, Pancreatic Cancer, Papilloma Of Choroid Plexus |
AD,MU,P |
98.92% |
557 of 563 |
XRCC2 |
|
Fanconi Anemia Complementation Group U, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
AR |
98.39% |
28 of 28 |
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
Paul, A., & Paul, S. (2014). The breast cancer susceptibility genes (BRCA) in breast and ovarian cancers. Frontiers in bioscience (Landmark edition), 19, 605–618. https://doi.org/10.2741/4230
Yamauchi, H., & Takei, J. (2018). Management of hereditary breast and ovarian cancer. International journal of clinical oncology, 23(1), 45–51. https://doi.org/10.1007/s10147-017-1208-9
Apostolou, P., & Fostira, F. (2013). Hereditary breast cancer: the era of new susceptibility genes. BioMed research international, 2013, 747318. https://doi.org/10.1155/2013/747318
National Comprehensive Cancer Network. (2021). Retrieved from https://www.nccn.org/professionals/physician_gls/default.aspx#detection
Hereditary Breast and Ovarian Cancer. (2021). Retrieved 16 February 2021, from https://www.cancer.net/cancer-types/hereditary-breast-and-ovarian-cancer
Cao, A., Huang, L., & Shao, Z. (2017). The Preventive Intervention of Hereditary Breast Cancer. Advances in experimental medicine and biology, 1026, 41–57. https://doi.org/10.1007/978-981-10-6020-5_3