Hereditary breast cancer
This article deals with hereditary breast cancer.
Familial breast cancer redirects to this article.
Syndromes associated with breast cancer
| Gene | Syndrome | Cancers | Notes |
|---|---|---|---|
| BRCA1 | Familial breast and ovarian cancer[1] | breast, male breast, ovarian, prostate, pancreas, fallopian tube | younger individuals vis-à-vis BRCA2 |
| BRCA2 | Familial breast and ovarian cancer 2[2] | breast, 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, larynx, lung, leukemia, adrenal, breast | often present in childhood |
| CHEK2 | Li-Fraumeni syndrome (variant) | see p53 | - |
| STK11 | Peutz-Jeghers syndrome | breast, gastrointestinal, 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 versus 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.
Management
- Women get prophylatic bilateral salpingo-oophorectomies and mastectomies.
- The pathology yield in bilateral salpingo-oophorectomies is significant but modest; in series of 26 prophylatic surgeries (BRCA1 22 individuals, BRCA2 4 individuals) there were 2 in situ carcinoma and 2 atypical proliferations.[5] All of the pathology was in BRCA1 carriers.
- In prophylatic procedures, the ovaries and tubes, endometrium, and lower uterine segment should all be submitted in total.[6]
- Poly(ADP-ribose) polymerases (PARP) inhibitors, e.g. olaparib.[7]
- Used in both germline and somatic BRCA-mutated cancers.
Sign out
- See Uterus#BRCA_carrier.
Other mutations
- BARD1 mutations.[8]
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.
- ↑ Carcangiu, ML.; Radice, P.; Manoukian, S.; Spatti, G.; Gobbo, M.; Pensotti, V.; Crucianelli, R.; Pasini, B. (Jan 2004). "Atypical epithelial proliferation in fallopian tubes in prophylactic salpingo-oophorectomy specimens from BRCA1 and BRCA2 germline mutation carriers.". Int J Gynecol Pathol 23 (1): 35-40. doi:10.1097/01.pgp.0000101082.35393.84. PMID 14668548.
- ↑ Downes, MR.; Allo, G.; McCluggage, WG.; Sy, K.; Ferguson, SE.; Aronson, M.; Pollett, A.; Gallinger, S. et al. (Aug 2014). "Review of findings in prophylactic gynaecological specimens in Lynch syndrome with literature review and recommendations for grossing.". Histopathology 65 (2): 228-39. doi:10.1111/his.12386. PMID 24495259.
- ↑ Dziadkowiec KN, Gąsiorowska E, Nowak-Markwitz E, Jankowska A (December 2016). "PARP inhibitors: review of mechanisms of action and BRCA1/2 mutation targeting". Prz Menopauzalny 15 (4): 215–219. doi:10.5114/pm.2016.65667. PMC 5327624. PMID 28250726. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5327624/.
- ↑ 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.