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BRCA Rearrangement

MedGen UID:
882681
•Concept ID:
C4055395
•
Cell or Molecular Dysfunction
Synonyms: BRCA Family Gene Rearrangement; BRCA Family Rearrangement; BRCA Gene Rearrangement

Definition

A molecular abnormality indicating the presence of rearrangement mutations in either the BRCA1 gene at 17q21 or the BRCA2 gene at 13q12.3. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBRCA Rearrangement

Professional guidelines

PubMed

Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z, Zhang Q, Jin Y, Zhang X, Chen Y, Yang C, Tang X, Jiang H, Wang X, Zhou X, Yu F, Wang B, Guan M
BMC Cancer 2024 Apr 2;24(1):411. doi: 10.1186/s12885-024-12089-w. PMID: 38566028Free PMC Article
Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China.
Wu H, Xu B, Gao Q, Zhou X, Shao J, Liang Z, Ma D
Mol Diagn Ther 2020 Dec;24(6):715-721. doi: 10.1007/s40291-020-00489-0. PMID: 32970304
Poly (ADP-ribose) polymerase inhibitor: an evolving paradigm in the treatment of prostate cancer.
Zhang J
Asian J Androl 2014 May-Jun;16(3):401-6. doi: 10.4103/1008-682X.123684. PMID: 24589464Free PMC Article

Recent clinical studies

Etiology

Identification of a robust DNA methylation signature for Fanconi anemia.
Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M
Am J Hum Genet 2023 Nov 2;110(11):1938-1949. Epub 2023 Oct 20 doi: 10.1016/j.ajhg.2023.09.014. PMID: 37865086Free PMC Article
Rucaparib for the Treatment of Metastatic Castration-resistant Prostate Cancer Associated with a DNA Damage Repair Gene Alteration: Final Results from the Phase 2 TRITON2 Study.
Abida W, Campbell D, Patnaik A, Bryce AH, Shapiro J, Bambury RM, Zhang J, Burke JM, Castellano D, Font A, Ganju V, Hardy-Bessard AC, McDermott R, Sautois B, Spaeth D, Voog E, Piulats JM, Pintus E, Ryan CJ, Merseburger AS, Daugaard G, Heidenreich A, Fizazi K, Loehr A, Despain D, Simmons AD, Dowson M, Go J, Watkins SP, Chowdhury S
Eur Urol 2023 Sep;84(3):321-330. Epub 2023 Jun 3 doi: 10.1016/j.eururo.2023.05.021. PMID: 37277275Free PMC Article
Detection of BRCA1, BRCA2, and ATM Alterations in Matched Tumor Tissue and Circulating Tumor DNA in Patients with Prostate Cancer Screened in PROfound.
Chi KN, Barnicle A, Sibilla C, Lai Z, Corcoran C, Barrett JC, Adelman CA, Qiu P, Easter A, Dearden S, Oxnard GR, Agarwal N, Azad A, de Bono J, Mateo J, Olmos D, Thiery-Vuillemin A, Harrington EA
Clin Cancer Res 2023 Jan 4;29(1):81-91. doi: 10.1158/1078-0432.CCR-22-0931. PMID: 36043882Free PMC Article
BRCA genes: BRCA 1 and BRCA 2.
Varol U, Kucukzeybek Y, Alacacioglu A, Somali I, Altun Z, Aktas S, Oktay Tarhan M
J BUON 2018 Jul-Aug;23(4):862-866. PMID: 30358186
Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Cheng HS, Yang AS
BMC Cancer 2018 Mar 22;18(1):315. doi: 10.1186/s12885-018-4229-5. PMID: 29566657Free PMC Article

Diagnosis

If it's a target, it's a pan-cancer target: Tissue is not the issue.
Adashek JJ, Kato S, Sicklick JK, Lippman SM, Kurzrock R
Cancer Treat Rev 2024 Apr;125:102721. Epub 2024 Mar 21 doi: 10.1016/j.ctrv.2024.102721. PMID: 38522181Free PMC Article
Identification of a robust DNA methylation signature for Fanconi anemia.
Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M
Am J Hum Genet 2023 Nov 2;110(11):1938-1949. Epub 2023 Oct 20 doi: 10.1016/j.ajhg.2023.09.014. PMID: 37865086Free PMC Article
PARP goes the weasel! Emerging role of PARP inhibitors in acute leukemias.
Fritz C, Portwood SM, Przespolewski A, Wang ES
Blood Rev 2021 Jan;45:100696. Epub 2020 May 7 doi: 10.1016/j.blre.2020.100696. PMID: 32482307Free PMC Article
State-of-the-art strategies for targeting the DNA damage response in cancer.
Pilié PG, Tang C, Mills GB, Yap TA
Nat Rev Clin Oncol 2019 Feb;16(2):81-104. doi: 10.1038/s41571-018-0114-z. PMID: 30356138Free PMC Article
Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Cheng HS, Yang AS
BMC Cancer 2018 Mar 22;18(1):315. doi: 10.1186/s12885-018-4229-5. PMID: 29566657Free PMC Article

Therapy

Rucaparib for the Treatment of Metastatic Castration-resistant Prostate Cancer Associated with a DNA Damage Repair Gene Alteration: Final Results from the Phase 2 TRITON2 Study.
Abida W, Campbell D, Patnaik A, Bryce AH, Shapiro J, Bambury RM, Zhang J, Burke JM, Castellano D, Font A, Ganju V, Hardy-Bessard AC, McDermott R, Sautois B, Spaeth D, Voog E, Piulats JM, Pintus E, Ryan CJ, Merseburger AS, Daugaard G, Heidenreich A, Fizazi K, Loehr A, Despain D, Simmons AD, Dowson M, Go J, Watkins SP, Chowdhury S
Eur Urol 2023 Sep;84(3):321-330. Epub 2023 Jun 3 doi: 10.1016/j.eururo.2023.05.021. PMID: 37277275Free PMC Article
Detection of BRCA1, BRCA2, and ATM Alterations in Matched Tumor Tissue and Circulating Tumor DNA in Patients with Prostate Cancer Screened in PROfound.
Chi KN, Barnicle A, Sibilla C, Lai Z, Corcoran C, Barrett JC, Adelman CA, Qiu P, Easter A, Dearden S, Oxnard GR, Agarwal N, Azad A, de Bono J, Mateo J, Olmos D, Thiery-Vuillemin A, Harrington EA
Clin Cancer Res 2023 Jan 4;29(1):81-91. doi: 10.1158/1078-0432.CCR-22-0931. PMID: 36043882Free PMC Article
PARP goes the weasel! Emerging role of PARP inhibitors in acute leukemias.
Fritz C, Portwood SM, Przespolewski A, Wang ES
Blood Rev 2021 Jan;45:100696. Epub 2020 May 7 doi: 10.1016/j.blre.2020.100696. PMID: 32482307Free PMC Article
State-of-the-art strategies for targeting the DNA damage response in cancer.
Pilié PG, Tang C, Mills GB, Yap TA
Nat Rev Clin Oncol 2019 Feb;16(2):81-104. doi: 10.1038/s41571-018-0114-z. PMID: 30356138Free PMC Article
Genomic instability and the selection of treatments for cancer.
Martin SA, Hewish M, Lord CJ, Ashworth A
J Pathol 2010 Jan;220(2):281-9. doi: 10.1002/path.2631. PMID: 19890832

Prognosis

Prognostic impact of germline BRCA1/2 pathogenic variants in breast cancer.
Corso G, Girardi A, Calvello M, Gandini S, Gaeta A, Marabelli M, Magnoni F, Veronesi P, Guerrieri-Gonzaga A, Bonanni B
Breast Cancer Res Treat 2023 Jan;197(1):103-112. Epub 2022 Nov 4 doi: 10.1007/s10549-022-06776-0. PMID: 36331686
Integrated, Integral, and Exploratory Biomarkers in the Development of Poly(ADP-Ribose) Polymerase Inhibitors.
Konecny GE, Chander C, Zhang L
Cancer J 2021 Nov-Dec 01;27(6):482-490. doi: 10.1097/PPO.0000000000000564. PMID: 34904811
Pancreatic Neoplasms With Acinar Differentiation: A Review of Pathologic and Molecular Features.
Thompson ED, Wood LD
Arch Pathol Lab Med 2020 Jul 1;144(7):808-815. doi: 10.5858/arpa.2019-0472-RA. PMID: 31869246
State-of-the-art strategies for targeting the DNA damage response in cancer.
Pilié PG, Tang C, Mills GB, Yap TA
Nat Rev Clin Oncol 2019 Feb;16(2):81-104. doi: 10.1038/s41571-018-0114-z. PMID: 30356138Free PMC Article
Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Cheng HS, Yang AS
BMC Cancer 2018 Mar 22;18(1):315. doi: 10.1186/s12885-018-4229-5. PMID: 29566657Free PMC Article

Clinical prediction guides

Rucaparib for the Treatment of Metastatic Castration-resistant Prostate Cancer Associated with a DNA Damage Repair Gene Alteration: Final Results from the Phase 2 TRITON2 Study.
Abida W, Campbell D, Patnaik A, Bryce AH, Shapiro J, Bambury RM, Zhang J, Burke JM, Castellano D, Font A, Ganju V, Hardy-Bessard AC, McDermott R, Sautois B, Spaeth D, Voog E, Piulats JM, Pintus E, Ryan CJ, Merseburger AS, Daugaard G, Heidenreich A, Fizazi K, Loehr A, Despain D, Simmons AD, Dowson M, Go J, Watkins SP, Chowdhury S
Eur Urol 2023 Sep;84(3):321-330. Epub 2023 Jun 3 doi: 10.1016/j.eururo.2023.05.021. PMID: 37277275Free PMC Article
BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
Kharel S, Shrestha S, Yadav S, Shakya P, Baidya S, Hirachan S
J Int Med Res 2022 Jan;50(1):3000605211070757. doi: 10.1177/03000605211070757. PMID: 35000471Free PMC Article
Integrated, Integral, and Exploratory Biomarkers in the Development of Poly(ADP-Ribose) Polymerase Inhibitors.
Konecny GE, Chander C, Zhang L
Cancer J 2021 Nov-Dec 01;27(6):482-490. doi: 10.1097/PPO.0000000000000564. PMID: 34904811
Pancreatic Neoplasms With Acinar Differentiation: A Review of Pathologic and Molecular Features.
Thompson ED, Wood LD
Arch Pathol Lab Med 2020 Jul 1;144(7):808-815. doi: 10.5858/arpa.2019-0472-RA. PMID: 31869246
State-of-the-art strategies for targeting the DNA damage response in cancer.
Pilié PG, Tang C, Mills GB, Yap TA
Nat Rev Clin Oncol 2019 Feb;16(2):81-104. doi: 10.1038/s41571-018-0114-z. PMID: 30356138Free PMC Article

Recent systematic reviews

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
Kharel S, Shrestha S, Yadav S, Shakya P, Baidya S, Hirachan S
J Int Med Res 2022 Jan;50(1):3000605211070757. doi: 10.1177/03000605211070757. PMID: 35000471Free PMC Article

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