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Difference between revisions of "Hereditary breast cancer"
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Hereditary breast cancer (view source)
Revision as of 15:10, 1 November 2022
, 15:10, 1 November 2022→See also
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! Gene | ! Gene | ||
! Syndrome | ! Syndrome | ||
! | ! Cancers | ||
! Notes | ! Notes | ||
|- | |- | ||
| BRCA1 | | BRCA1 | ||
| Familial breast and ovarian cancer<ref name=omim113705>{{OMIM|113705}}</ref> | | Familial breast and ovarian cancer<ref name=omim113705>{{OMIM|113705}}</ref> | ||
| male breast, ovarian, prostate, pancreas, fallopian tube | | breast, male breast, ovarian, prostate, pancreas, fallopian tube | ||
| younger individuals vis-à-vis BRCA2 | | younger individuals vis-à-vis BRCA2 | ||
|- | |- | ||
| BRCA2 | | BRCA2 | ||
| Familial breast and ovarian cancer 2<ref name=omim600185>{{OMIM|600185}}</ref> | | Familial breast and ovarian cancer 2<ref name=omim600185>{{OMIM|600185}}</ref> | ||
| male breast, ovarian, prostate, pancreas, stomach, melanoma, gallbladder, bile duct, pharynx | | breast, male breast, ovarian, prostate, pancreas, stomach, melanoma, gallbladder, bile duct, pharynx | ||
| older individuals vis-à-vis BRCA1 | | older individuals vis-à-vis BRCA1 | ||
|- | |- | ||
| TP53 (p53) | | TP53 (p53) | ||
| [[Li-Fraumeni syndrome]] ([[AKA]] ''SBLA syndrome'') | | [[Li-Fraumeni syndrome]] ([[AKA]] ''SBLA syndrome'') | ||
| [[sarcoma]]s, brain | | [[sarcoma]]s, brain, larynx, lung, leukemia, [[adrenal cortical carcinoma|adrenal]], breast | ||
| often present in childhood | | often present in childhood | ||
|- | |- | ||
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| STK11 | | STK11 | ||
| [[Peutz-Jeghers syndrome]] | | [[Peutz-Jeghers syndrome]] | ||
| breast | | breast, gastrointestinal, [[Sertoli cell tumour]], [[granulosa cell tumour]], [[SCTAT]] | ||
| characteristic GI [[hamartoma]]s, mucocutaneous pigmentation | | characteristic GI [[hamartoma]]s, mucocutaneous pigmentation | ||
|- | |- | ||
| PTEN | | PTEN | ||
| [[Cowden syndrome]] | | [[Cowden syndrome]] | ||
| breast, thyroid (PTC), endometrial, renal, colorectal | | breast, thyroid ([[papillary thyroid carcinoma|PTC]]), endometrial, renal, colorectal | ||
| - | | - | ||
|- | |- | ||
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==BRCA1 and BRCA2== | ==BRCA1 and BRCA2== | ||
BRCA1 | BRCA1 versus BRCA2:<ref name=Ref_PBoD8_1078>{{Ref PBoD8|1078}}</ref> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
! Gene | ! Gene | ||
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How to remember types of cancer associated with BRCA2 - ''PUM'': | How to remember types of cancer associated with BRCA2 - ''PUM'': | ||
*'''P'''harynx, '''u'''pper GI (stomach, gallbladder, biliary), '''m'''elanoma. | *'''P'''harynx, '''u'''pper GI (stomach, gallbladder, biliary), '''m'''elanoma. | ||
===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.<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> | |||
*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=== | |||
:See ''[[Uterus#BRCA_carrier]]''. | |||
==Other mutations== | ==Other mutations== | ||
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*[[Breast cancer]]. | *[[Breast cancer]]. | ||
*[[Hereditary diffuse gastric cancer]]. | *[[Hereditary diffuse gastric cancer]]. | ||
*[[Serous tubal intraepithelial carcinoma]]. | |||
*[[BRIP1]]. | |||
*[[Intraductal carcinoma of the prostate]] - associated with BRCA2. | |||
*[[Ancillary testing in prostate cancer]]. | |||
==References== | ==References== | ||