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BRCA-Associated Malignant Neoplasm

MedGen UID:
1710602
•Concept ID:
C5238337
•
Neoplastic Process
Synonym: BRCA-Mutated Malignant Neoplasm

Definition

A malignant neoplasm caused by deleterious germline mutation in a gene of the BRCA family. [from NCI]

Professional guidelines

PubMed

Olaparib in the treatment of ovarian cancer.
Washington CR, Richardson DL, Moore KN
Future Oncol 2019 Oct;15(30):3435-3449. Epub 2019 Sep 3 doi: 10.2217/fon-2019-0271. PMID: 31478762
Global Disparities in Breast Cancer Genetics Testing, Counselling and Management.
Yip CH, Evans DG, Agarwal G, Buccimazza I, Kwong A, Morant R, Prakash I, Song CY, Taib NA, Tausch C, Ung O, Meterissian S
World J Surg 2019 May;43(5):1264-1270. doi: 10.1007/s00268-018-04897-6. PMID: 30610270
BRCA-associated Cancers: Role of Imaging in Screening, Diagnosis, and Management.
Lee MV, Katabathina VS, Bowerson ML, Mityul MI, Shetty AS, Elsayes KM, Balachandran A, Bhosale PR, McCullough AE, Menias CO
Radiographics 2017 Jul-Aug;37(4):1005-1023. Epub 2017 May 26 doi: 10.1148/rg.2017160144. PMID: 28548905

Recent clinical studies

Etiology

Molecular basis and therapeutic targets in prostate cancer: A comprehensive review.
Militaru FC, Militaru V, Crisan N, Bocsan IC, Udrea AA, Catana A, Kutasi E, Militaru MS
Biomol Biomed 2023 Sep 4;23(5):760-771. doi: 10.17305/bb.2023.8782. PMID: 37021836Free PMC Article
Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.
Bellcross CA
Obstet Gynecol Clin North Am 2022 Mar;49(1):117-147. doi: 10.1016/j.ogc.2021.11.005. PMID: 35168766
Olaparib Monotherapy for Previously Treated Pancreatic Cancer With DNA Damage Repair Genetic Alterations Other Than Germline BRCA Variants: Findings From 2 Phase 2 Nonrandomized Clinical Trials.
Javle M, Shacham-Shmueli E, Xiao L, Varadhachary G, Halpern N, Fogelman D, Boursi B, Uruba S, Margalit O, Wolff RA, Golan T
JAMA Oncol 2021 May 1;7(5):693-699. doi: 10.1001/jamaoncol.2021.0006. PMID: 33662100Free PMC Article
Tumour lineage shapes BRCA-mediated phenotypes.
Jonsson P, Bandlamudi C, Cheng ML, Srinivasan P, Chavan SS, Friedman ND, Rosen EY, Richards AL, Bouvier N, Selcuklu SD, Bielski CM, Abida W, Mandelker D, Birsoy O, Zhang L, Zehir A, Donoghue MTA, Baselga J, Offit K, Scher HI, O'Reilly EM, Stadler ZK, Schultz N, Socci ND, Viale A, Ladanyi M, Robson ME, Hyman DM, Berger MF, Solit DB, Taylor BS
Nature 2019 Jul;571(7766):576-579. Epub 2019 Jul 10 doi: 10.1038/s41586-019-1382-1. PMID: 31292550Free PMC Article
BRCA1 and BRCA2 mutations and breast cancer.
Narod SA, Salmena L
Discov Med 2011 Nov;12(66):445-53. PMID: 22127115

Diagnosis

Molecular basis and therapeutic targets in prostate cancer: A comprehensive review.
Militaru FC, Militaru V, Crisan N, Bocsan IC, Udrea AA, Catana A, Kutasi E, Militaru MS
Biomol Biomed 2023 Sep 4;23(5):760-771. doi: 10.17305/bb.2023.8782. PMID: 37021836Free PMC Article
Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
Murciano-Goroff YR, Schram AM, Rosen EY, Won H, Gong Y, Noronha AM, Janjigian YY, Stadler ZK, Chang JC, Yang SR, Mandelker D, Offit K, Berger MF, Donoghue MTA, Bandlamudi C, Drilon A
Nat Commun 2022 Nov 23;13(1):7182. doi: 10.1038/s41467-022-34109-8. PMID: 36418296Free PMC Article
Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.
Bellcross CA
Obstet Gynecol Clin North Am 2022 Mar;49(1):117-147. doi: 10.1016/j.ogc.2021.11.005. PMID: 35168766
Tumour lineage shapes BRCA-mediated phenotypes.
Jonsson P, Bandlamudi C, Cheng ML, Srinivasan P, Chavan SS, Friedman ND, Rosen EY, Richards AL, Bouvier N, Selcuklu SD, Bielski CM, Abida W, Mandelker D, Birsoy O, Zhang L, Zehir A, Donoghue MTA, Baselga J, Offit K, Scher HI, O'Reilly EM, Stadler ZK, Schultz N, Socci ND, Viale A, Ladanyi M, Robson ME, Hyman DM, Berger MF, Solit DB, Taylor BS
Nature 2019 Jul;571(7766):576-579. Epub 2019 Jul 10 doi: 10.1038/s41586-019-1382-1. PMID: 31292550Free PMC Article
Olaparib.
Goulooze SC, Cohen AF, Rissmann R
Br J Clin Pharmacol 2016 Jan;81(1):171-3. Epub 2015 Oct 24 doi: 10.1111/bcp.12761. PMID: 26344419Free PMC Article

Therapy

Molecular basis and therapeutic targets in prostate cancer: A comprehensive review.
Militaru FC, Militaru V, Crisan N, Bocsan IC, Udrea AA, Catana A, Kutasi E, Militaru MS
Biomol Biomed 2023 Sep 4;23(5):760-771. doi: 10.17305/bb.2023.8782. PMID: 37021836Free PMC Article
Olaparib Monotherapy for Previously Treated Pancreatic Cancer With DNA Damage Repair Genetic Alterations Other Than Germline BRCA Variants: Findings From 2 Phase 2 Nonrandomized Clinical Trials.
Javle M, Shacham-Shmueli E, Xiao L, Varadhachary G, Halpern N, Fogelman D, Boursi B, Uruba S, Margalit O, Wolff RA, Golan T
JAMA Oncol 2021 May 1;7(5):693-699. doi: 10.1001/jamaoncol.2021.0006. PMID: 33662100Free PMC Article
Tumour lineage shapes BRCA-mediated phenotypes.
Jonsson P, Bandlamudi C, Cheng ML, Srinivasan P, Chavan SS, Friedman ND, Rosen EY, Richards AL, Bouvier N, Selcuklu SD, Bielski CM, Abida W, Mandelker D, Birsoy O, Zhang L, Zehir A, Donoghue MTA, Baselga J, Offit K, Scher HI, O'Reilly EM, Stadler ZK, Schultz N, Socci ND, Viale A, Ladanyi M, Robson ME, Hyman DM, Berger MF, Solit DB, Taylor BS
Nature 2019 Jul;571(7766):576-579. Epub 2019 Jul 10 doi: 10.1038/s41586-019-1382-1. PMID: 31292550Free PMC Article
Olaparib.
Goulooze SC, Cohen AF, Rissmann R
Br J Clin Pharmacol 2016 Jan;81(1):171-3. Epub 2015 Oct 24 doi: 10.1111/bcp.12761. PMID: 26344419Free PMC Article
Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers.
Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, Mortimer P, Swaisland H, Lau A, O'Connor MJ, Ashworth A, Carmichael J, Kaye SB, Schellens JH, de Bono JS
N Engl J Med 2009 Jul 9;361(2):123-34. Epub 2009 Jun 24 doi: 10.1056/NEJMoa0900212. PMID: 19553641

Prognosis

Molecular basis and therapeutic targets in prostate cancer: A comprehensive review.
Militaru FC, Militaru V, Crisan N, Bocsan IC, Udrea AA, Catana A, Kutasi E, Militaru MS
Biomol Biomed 2023 Sep 4;23(5):760-771. doi: 10.17305/bb.2023.8782. PMID: 37021836Free PMC Article
MRI appearance of BRCA-associated prostate cancer.
Kamal O, Foster BR, Young DJ, Hansel DE, Coakley FV
Clin Imaging 2022 Apr;84:135-139. Epub 2022 Feb 19 doi: 10.1016/j.clinimag.2022.02.007. PMID: 35217282
Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.
Bellcross CA
Obstet Gynecol Clin North Am 2022 Mar;49(1):117-147. doi: 10.1016/j.ogc.2021.11.005. PMID: 35168766
Olaparib Monotherapy for Previously Treated Pancreatic Cancer With DNA Damage Repair Genetic Alterations Other Than Germline BRCA Variants: Findings From 2 Phase 2 Nonrandomized Clinical Trials.
Javle M, Shacham-Shmueli E, Xiao L, Varadhachary G, Halpern N, Fogelman D, Boursi B, Uruba S, Margalit O, Wolff RA, Golan T
JAMA Oncol 2021 May 1;7(5):693-699. doi: 10.1001/jamaoncol.2021.0006. PMID: 33662100Free PMC Article
BRCA-associated Cancers: Role of Imaging in Screening, Diagnosis, and Management.
Lee MV, Katabathina VS, Bowerson ML, Mityul MI, Shetty AS, Elsayes KM, Balachandran A, Bhosale PR, McCullough AE, Menias CO
Radiographics 2017 Jul-Aug;37(4):1005-1023. Epub 2017 May 26 doi: 10.1148/rg.2017160144. PMID: 28548905

Clinical prediction guides

BRCA1/2 reversion mutations in a pan-cancer cohort.
Nakamura K, Hayashi H, Kawano R, Ishikawa M, Aimono E, Mizuno T, Kuroda H, Kojima Y, Niikura N, Kawanishi A, Takeshita K, Suzuki S, Ueno S, Okuwaki K, Sasaki J, Yamaguchi M, Masuda K, Chiyoda T, Yamagami W, Okada C, Nohara S, Tanishima S, Nishihara H
Cancer Sci 2024 Feb;115(2):635-647. Epub 2023 Dec 1 doi: 10.1111/cas.16033. PMID: 38041241Free PMC Article
Theranostic biomarkers and PARP-inhibitors effectiveness in patients with non-BRCA associated homologous recombination deficient tumors: Still looking through a dirty glass window?
Incorvaia L, Perez A, Marchetti C, Brando C, Gristina V, Cancelliere D, Pivetti A, Contino S, Di Giovanni E, Barraco N, Bono M, Giurintano A, Bazan Russo TD, Gottardo A, Cutaia S, Pedone E, Peri M, Corsini LR, Fanale D, Galvano A, Scambia G, Badalamenti G, Russo A, Bazan V
Cancer Treat Rev 2023 Dec;121:102650. Epub 2023 Oct 31 doi: 10.1016/j.ctrv.2023.102650. PMID: 37939446
Spectrum of Response to Platinum and PARP Inhibitors in Germline BRCA-Associated Pancreatic Cancer in the Clinical and Preclinical Setting.
Stossel C, Raitses-Gurevich M, Atias D, Beller T, Glick Gorman Y, Halperin S, Peer E, Denroche RE, Zhang A, Notta F, Wilson JM, O'Kane GM, Haimov Talmoud E, Amison N, Schvimer M, Salpeter SJ, Bar V, Zundelevich A, Tirosh I, Tal R, Dinstag G, Kinar Y, Eliezer Y, Ben-David U, Gavert NS, Straussman R, Gallinger SJ, Berger R, Golan T
Cancer Discov 2023 Aug 4;13(8):1826-1843. doi: 10.1158/2159-8290.CD-22-0412. PMID: 37449843Free PMC Article
Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.
Bellcross CA
Obstet Gynecol Clin North Am 2022 Mar;49(1):117-147. doi: 10.1016/j.ogc.2021.11.005. PMID: 35168766
Tumour lineage shapes BRCA-mediated phenotypes.
Jonsson P, Bandlamudi C, Cheng ML, Srinivasan P, Chavan SS, Friedman ND, Rosen EY, Richards AL, Bouvier N, Selcuklu SD, Bielski CM, Abida W, Mandelker D, Birsoy O, Zhang L, Zehir A, Donoghue MTA, Baselga J, Offit K, Scher HI, O'Reilly EM, Stadler ZK, Schultz N, Socci ND, Viale A, Ladanyi M, Robson ME, Hyman DM, Berger MF, Solit DB, Taylor BS
Nature 2019 Jul;571(7766):576-579. Epub 2019 Jul 10 doi: 10.1038/s41586-019-1382-1. PMID: 31292550Free PMC Article

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