Difference between revisions of "Hereditary breast cancer"
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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 | ||
|- | |- | ||
| Line 32: | Line 32: | ||
| 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 | ||
| - | | - | ||
|- | |- | ||
| CDH1 | | CDH1 | ||
| Familial diffuse gastric cancer<ref name=omim192090>{{OMIM|192090}}</ref> | | [[Familial diffuse gastric cancer]]<ref name=omim192090>{{OMIM|192090}}</ref> | ||
| [[invasive lobular carcinoma]], gastric [[signet ring cell carcinoma]] | | [[invasive lobular carcinoma]], gastric [[signet ring cell carcinoma]] | ||
| - | | - | ||
| Line 48: | Line 48: | ||
==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 | ||
| Line 71: | Line 71: | ||
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 [[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> | |||
*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 genes== | |||
*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]]. | ||
*[[Hereditary diffuse gastric cancer]]. | |||
*[[Serous tubal intraepithelial carcinoma]]. | |||
*[[BRIP1]]. | |||
*[[Intraductal carcinoma of the prostate]] - associated with BRCA2. | |||
*[[Ancillary testing in prostate cancer]]. | |||
*[[Prophylactic bilateral salpingo-oophorectomy]]. | |||
==References== | ==References== | ||
Latest revision as of 15:14, 9 June 2024
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 genes
- BARD1 - associated with breast and ovarian cancer.[8]
- RAD51 - associated with breast and ovarian cancer.[9]
See also
- Breast cancer.
- Hereditary diffuse gastric cancer.
- Serous tubal intraepithelial carcinoma.
- BRIP1.
- Intraductal carcinoma of the prostate - associated with BRCA2.
- Ancillary testing in prostate cancer.
- Prophylactic bilateral salpingo-oophorectomy.
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.
- ↑ Bonilla B, Hengel SR, Grundy MK, Bernstein KA (November 2020). "RAD51 Gene Family Structure and Function". Annu Rev Genet 54: 25–46. doi:10.1146/annurev-genet-021920-092410. PMC 7703940. PMID 32663049. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7703940/.