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Difference between revisions of "Hereditary breast cancer"
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===Management=== | ===Management=== | ||
*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 [[Prophylactic bilateral salpingo-oophorectomy|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 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> | **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> | ||
*PARP inhibitors.<ref name=pmid28250726>{{cite journal |authors=Dziadkowiec KN, Gąsiorowska E, Nowak-Markwitz E, Jankowska A |title=PARP inhibitors: review of mechanisms of action and BRCA1/2 mutation targeting |journal=Prz Menopauzalny |volume=15 |issue=4 |pages=215–219 |date=December 2016 |pmid=28250726 |pmc=5327624 |doi=10.5114/pm.2016.65667 |url=}}</ref> | *Poly(ADP-ribose) polymerases (PARP) inhibitors, e.g. olaparib.<ref name=pmid28250726>{{cite journal |authors=Dziadkowiec KN, Gąsiorowska E, Nowak-Markwitz E, Jankowska A |title=PARP inhibitors: review of mechanisms of action and BRCA1/2 mutation targeting |journal=Prz Menopauzalny |volume=15 |issue=4 |pages=215–219 |date=December 2016 |pmid=28250726 |pmc=5327624 |doi=10.5114/pm.2016.65667 |url=}}</ref> | ||
**Used in both germline and somatic BRCA-mutated cancers. | |||
===Sign out=== | ===Sign out=== | ||
:See ''[[Uterus#BRCA_carrier]]''. | :See ''[[Uterus#BRCA_carrier]]''. | ||
==Other | ==Other genes== | ||
*BARD1 | *BARD1 - associated with breast and ovarian cancer.<ref>{{cite journal |author=Ratajska M, Antoszewska E, Piskorz A, ''et al.'' |title=Cancer predisposing BARD1 mutations in breast-ovarian cancer families |journal=Breast Cancer Res. Treat. |volume=131 |issue=1 |pages=89–97 |year=2012 |month=January |pmid=21344236 |doi=10.1007/s10549-011-1403-8 |url=}}</ref> | ||
*RAD51 - associated with breast and ovarian cancer.<ref>{{cite journal |authors=Bonilla B, Hengel SR, Grundy MK, Bernstein KA |title=RAD51 Gene Family Structure and Function |journal=Annu Rev Genet |volume=54 |issue= |pages=25–46 |date=November 2020 |pmid=32663049 |pmc=7703940 |doi=10.1146/annurev-genet-021920-092410 |url=}}</ref> | |||
==See also== | ==See also== | ||
*[[Breast cancer]]. | *[[Breast cancer]]. | ||
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*[[BRIP1]]. | *[[BRIP1]]. | ||
*[[Intraductal carcinoma of the prostate]] - associated with BRCA2. | *[[Intraductal carcinoma of the prostate]] - associated with BRCA2. | ||
*[[Ancillary testing in prostate cancer]]. | |||
*[[Prophylactic bilateral salpingo-oophorectomy]]. | |||
==References== | ==References== | ||