Difference between revisions of "Hereditary breast cancer"
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*Women get prophylatic bilateral salpingo-oophorectomies and mastectomies. | *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.<ref name=pmid14668548>{{Cite journal | last1 = Carcangiu | first1 = ML. | last2 = Radice | first2 = P. | last3 = Manoukian | first3 = S. | last4 = Spatti | first4 = G. | last5 = Gobbo | first5 = M. | last6 = Pensotti | first6 = V. | last7 = Crucianelli | first7 = R. | last8 = Pasini | first8 = B. | title = Atypical epithelial proliferation in fallopian tubes in prophylactic salpingo-oophorectomy specimens from BRCA1 and BRCA2 germline mutation carriers. | journal = Int J Gynecol Pathol | volume = 23 | issue = 1 | pages = 35-40 | month = Jan | year = 2004 | doi = 10.1097/01.pgp.0000101082.35393.84 | PMID = 14668548 }}</ref> All of the pathology was in BRCA1 carriers. | **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.<ref name=pmid14668548>{{Cite journal | last1 = Carcangiu | first1 = ML. | last2 = Radice | first2 = P. | last3 = Manoukian | first3 = S. | last4 = Spatti | first4 = G. | last5 = Gobbo | first5 = M. | last6 = Pensotti | first6 = V. | last7 = Crucianelli | first7 = R. | last8 = Pasini | first8 = B. | title = Atypical epithelial proliferation in fallopian tubes in prophylactic salpingo-oophorectomy specimens from BRCA1 and BRCA2 germline mutation carriers. | journal = Int J Gynecol Pathol | volume = 23 | issue = 1 | pages = 35-40 | month = Jan | year = 2004 | doi = 10.1097/01.pgp.0000101082.35393.84 | PMID = 14668548 }}</ref> All of the pathology was in BRCA1 carriers. | ||
**In prophylatic procedures, the ovaries and tubes, endometrium, and lower uterine segment should be [[submitted in total]].<ref name=pmid24495259>{{Cite journal | last1 = Downes | first1 = MR. | last2 = Allo | first2 = G. | last3 = McCluggage | first3 = WG. | last4 = Sy | first4 = K. | last5 = Ferguson | first5 = SE. | last6 = Aronson | first6 = M. | last7 = Pollett | first7 = A. | last8 = Gallinger | first8 = S. | last9 = Bilbily | first9 = E. | title = Review of findings in prophylactic gynaecological specimens in Lynch syndrome with literature review and recommendations for grossing. | journal = Histopathology | volume = 65 | issue = 2 | pages = 228-39 | month = Aug | year = 2014 | doi = 10.1111/his.12386 | PMID = 24495259 }}</ref> | **In prophylatic procedures, the ovaries and tubes, endometrium, and lower uterine segment should all be [[submitted in total]].<ref name=pmid24495259>{{Cite journal | last1 = Downes | first1 = MR. | last2 = Allo | first2 = G. | last3 = McCluggage | first3 = WG. | last4 = Sy | first4 = K. | last5 = Ferguson | first5 = SE. | last6 = Aronson | first6 = M. | last7 = Pollett | first7 = A. | last8 = Gallinger | first8 = S. | last9 = Bilbily | first9 = E. | title = Review of findings in prophylactic gynaecological specimens in Lynch syndrome with literature review and recommendations for grossing. | journal = Histopathology | volume = 65 | issue = 2 | pages = 228-39 | month = Aug | year = 2014 | doi = 10.1111/his.12386 | PMID = 24495259 }}</ref> | ||
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Revision as of 19:33, 6 June 2018
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]
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- See Uterus#BRCA_carrier.
Other mutations
- BARD1 mutations.[7]
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.
- ↑ 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.