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Breast cancer, early-onset

MedGen UID:
865388
•Concept ID:
C4016951
•
Neoplastic Process
Synonym: BREAST CANCER, EARLY-ONSET
 
OMIM®: 605882

Professional guidelines

PubMed

Mainstreaming genetic counseling for BRCA testing into oncology clinics - Indian perspective.
Verma A, Nag S, Hasan Q, Selvakumar VPP
Indian J Cancer 2019 Nov;56(Supplement):S38-S47. doi: 10.4103/ijc.IJC_458_19. PMID: 31793441
The Role of Genetic Testing in Patients With Breast Cancer: A Review.
Valencia OM, Samuel SE, Viscusi RK, Riall TS, Neumayer LA, Aziz H
JAMA Surg 2017 Jun 1;152(6):589-594. doi: 10.1001/jamasurg.2017.0552. PMID: 28423155
Clinical features and management of BRCA1 and BRCA2-associated prostate cancer.
Alanee SR, Glogowski EA, Schrader KA, Eastham JA, Offit K
Front Biosci (Elite Ed) 2014 Jan 1;6(1):15-30. doi: 10.2741/e686. PMID: 24389137

Recent clinical studies

Etiology

Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.
Pauty J, Rodrigue A, Couturier A, Buisson R, Masson JY
Biochem J 2014 Jun 15;460(3):331-42. doi: 10.1042/BJ20140208. PMID: 24870022
Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer.
Domchek SM, Jhaveri K, Patil S, Stopfer JE, Hudis C, Powers J, Stadler Z, Goldstein L, Kauff N, Khasraw M, Offit K, Nathanson KL, Robson M
Cancer 2013 Apr 1;119(7):1344-8. Epub 2012 Nov 16 doi: 10.1002/cncr.27842. PMID: 23165893
Higher incidence of isolated brain metastases in ovarian cancer patients with previous early breast cancer.
Faluyi OO, Gourley C, Smyth JF, Faratian D, Williams AR, Rye T, Rye R, Stewart M, Mackean MJ
Int J Gynecol Cancer 2010 Dec;20(9):1511-7. PMID: 21370594
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.
Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, MacMillan ML, Hanenberg H, Auerbach AD
Blood 2004 Apr 15;103(8):3226-9. Epub 2004 Jan 8 doi: 10.1182/blood-2003-09-3138. PMID: 15070707
Familial breast cancer.
Steel CM, Cohen BB, Porter DE
Semin Cancer Biol 1992 Jun;3(3):141-50. PMID: 1511156

Diagnosis

Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer.
Domchek SM, Jhaveri K, Patil S, Stopfer JE, Hudis C, Powers J, Stadler Z, Goldstein L, Kauff N, Khasraw M, Offit K, Nathanson KL, Robson M
Cancer 2013 Apr 1;119(7):1344-8. Epub 2012 Nov 16 doi: 10.1002/cncr.27842. PMID: 23165893
BRCA1 promoter methylation in peripheral blood DNA was identified in sporadic breast cancer and controls.
Bosviel R, Garcia S, Lavediaux G, Michard E, Dravers M, Kwiatkowski F, Bignon YJ, Bernard-Gallon DJ
Cancer Epidemiol 2012 Jun;36(3):e177-82. Epub 2012 Mar 7 doi: 10.1016/j.canep.2012.02.001. PMID: 22402307
The BARD1 Cys557Ser variant and breast cancer risk in Iceland.
Stacey SN, Sulem P, Johannsson OT, Helgason A, Gudmundsson J, Kostic JP, Kristjansson K, Jonsdottir T, Sigurdsson H, Hrafnkelsson J, Johannsson J, Sveinsson T, Myrdal G, Grimsson HN, Bergthorsson JT, Amundadottir LT, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K
PLoS Med 2006 Jul;3(7):e217. doi: 10.1371/journal.pmed.0030217. PMID: 16768547Free PMC Article
DNA damage among thyroid cancer and multiple cancer cases, controls, and long-lived individuals.
Sigurdson AJ, Hauptmann M, Alexander BH, Doody MM, Thomas CB, Struewing JP, Jones IM
Mutat Res 2005 Oct 3;586(2):173-88. doi: 10.1016/j.mrgentox.2005.07.001. PMID: 16099702
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.
Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, MacMillan ML, Hanenberg H, Auerbach AD
Blood 2004 Apr 15;103(8):3226-9. Epub 2004 Jan 8 doi: 10.1182/blood-2003-09-3138. PMID: 15070707

Therapy

Poly (ADP) ribose polymerase inhibition: A potential treatment of malignant peripheral nerve sheath tumor.
Kivlin CM, Watson KL, Al Sannaa GA, Belousov R, Ingram DR, Huang KL, May CD, Bolshakov S, Landers SM, Kalam AA, Slopis JM, McCutcheon IE, Pollock RE, Lev D, Lazar AJ, Torres KE
Cancer Biol Ther 2016;17(2):129-38. Epub 2015 Dec 9 doi: 10.1080/15384047.2015.1108486. PMID: 26650448Free PMC Article
PARP inhibitors for anticancer therapy.
Curtin N
Biochem Soc Trans 2014 Feb;42(1):82-8. doi: 10.1042/BST20130187. PMID: 24450632
A cognitive behavioural model and therapy for utero-vaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome: MRKH).
Heller-Boersma JG, Edmonds DK, Schmidt UH
Behav Cogn Psychother 2009 Jul;37(4):449-67. Epub 2009 Jun 10 doi: 10.1017/S1352465809990051. PMID: 19508745

Prognosis

Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer.
Domchek SM, Jhaveri K, Patil S, Stopfer JE, Hudis C, Powers J, Stadler Z, Goldstein L, Kauff N, Khasraw M, Offit K, Nathanson KL, Robson M
Cancer 2013 Apr 1;119(7):1344-8. Epub 2012 Nov 16 doi: 10.1002/cncr.27842. PMID: 23165893
Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.
Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V, Vidal-Millan S, Herrera LA, Cantú D, Bargallo-Rocha E, Mohar A, López-Camarillo C, Pérez-Plasencia C
PLoS One 2012;7(5):e37432. Epub 2012 May 24 doi: 10.1371/journal.pone.0037432. PMID: 22655046Free PMC Article
BRCA1 promoter methylation in peripheral blood DNA was identified in sporadic breast cancer and controls.
Bosviel R, Garcia S, Lavediaux G, Michard E, Dravers M, Kwiatkowski F, Bignon YJ, Bernard-Gallon DJ
Cancer Epidemiol 2012 Jun;36(3):e177-82. Epub 2012 Mar 7 doi: 10.1016/j.canep.2012.02.001. PMID: 22402307
Higher incidence of isolated brain metastases in ovarian cancer patients with previous early breast cancer.
Faluyi OO, Gourley C, Smyth JF, Faratian D, Williams AR, Rye T, Rye R, Stewart M, Mackean MJ
Int J Gynecol Cancer 2010 Dec;20(9):1511-7. PMID: 21370594
Familial breast cancer.
Steel CM, Cohen BB, Porter DE
Semin Cancer Biol 1992 Jun;3(3):141-50. PMID: 1511156

Clinical prediction guides

Poly (ADP) ribose polymerase inhibition: A potential treatment of malignant peripheral nerve sheath tumor.
Kivlin CM, Watson KL, Al Sannaa GA, Belousov R, Ingram DR, Huang KL, May CD, Bolshakov S, Landers SM, Kalam AA, Slopis JM, McCutcheon IE, Pollock RE, Lev D, Lazar AJ, Torres KE
Cancer Biol Ther 2016;17(2):129-38. Epub 2015 Dec 9 doi: 10.1080/15384047.2015.1108486. PMID: 26650448Free PMC Article
Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.
Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V, Vidal-Millan S, Herrera LA, Cantú D, Bargallo-Rocha E, Mohar A, López-Camarillo C, Pérez-Plasencia C
PLoS One 2012;7(5):e37432. Epub 2012 May 24 doi: 10.1371/journal.pone.0037432. PMID: 22655046Free PMC Article
Higher incidence of isolated brain metastases in ovarian cancer patients with previous early breast cancer.
Faluyi OO, Gourley C, Smyth JF, Faratian D, Williams AR, Rye T, Rye R, Stewart M, Mackean MJ
Int J Gynecol Cancer 2010 Dec;20(9):1511-7. PMID: 21370594
DNA damage among thyroid cancer and multiple cancer cases, controls, and long-lived individuals.
Sigurdson AJ, Hauptmann M, Alexander BH, Doody MM, Thomas CB, Struewing JP, Jones IM
Mutat Res 2005 Oct 3;586(2):173-88. doi: 10.1016/j.mrgentox.2005.07.001. PMID: 16099702
Association of BRCA1 with the inactive X chromosome and XIST RNA.
Ganesan S, Silver DP, Drapkin R, Greenberg R, Feunteun J, Livingston DM
Philos Trans R Soc Lond B Biol Sci 2004 Jan 29;359(1441):123-8. doi: 10.1098/rstb.2003.1371. PMID: 15065664Free PMC Article

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