Hereditary breast cancer
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This article deals with hereditary breast cancer.
Familial breast cancer redirects to this article.
Syndromes associated with breast cancer
| Gene | Syndrome | Other cancers | Notes |
|---|---|---|---|
| BRCA1 | Familial breast and ovarian cancer[1] | male breast, ovarian, prostate, pancreas, fallopian tube | younger individuals vis-à-vis BRCA2 |
| BRCA2 | Familial breast and ovarian cancer 2[2] | male breast, ovarian, prostate, pancreas, stomach, melanoma, gallbladder, bile duct, pharynx | older individuals vis-à-vis BRCA1 |
| TP53 (p53) | Li-Fraumeni syndrome (AKA SBLA syndrome) | sarcomas, brain cancer, larynx, lung, leukemia, adrenal cortical carcinoma | often present in childhood |
| CHEK2 | Li-Fraumeni syndrome (variant) | see p53 | - |
| STK11 | Peutz-Jeghers syndrome | breast cancer, GI cancer, Sertoli cell tumour, Granulosa cell tumour, SCTAT | characteristic GI hamartomas, mucocutaneous pigmentation |
| PTEN | Cowden syndrome | breast, thyroid (PTC), endometrial, renal, colorectal | - |
| CDH1 | Familial diffuse gastric cancer[3] | invasive lobular carcinoma, gastric signet ring cell carcinoma | - |
BRCA1 and BRCA2
BRCA1 vs. BRCA2:[4]
| Gene | Age | Histology | Other cancers |
|---|---|---|---|
| BRCA1 | younger | worse types, e.g. triple negative breast ca. | uterine tube |
| BRCA2 | older | sporadic types | stomach, melanoma, gallbladder, bile duct, pharynx |
Types of cancer associated with both BRCA1 and BRCA2 - male OPP:
- Male breast, ovarian, prostate, pancreas.
How to remember types of cancer associated with BRCA2 - PUM:
- Pharynx, upper GI (stomach, gallbladder, biliary), melanoma.
Other mutations
- BARD1 mutations.[5]
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 113705
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 600185
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 192090
- ↑ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1078. ISBN 978-1416031215.
- ↑ Ratajska M, Antoszewska E, Piskorz A, et al. (January 2012). "Cancer predisposing BARD1 mutations in breast-ovarian cancer families". Breast Cancer Res. Treat. 131 (1): 89–97. doi:10.1007/s10549-011-1403-8. PMID 21344236.