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Germline BRCA2 Gene Mutation

MedGen UID:
1657077
Concept ID:
C4725886
Cell or Molecular Dysfunction
Synonyms: Germline BRCA2 Mutation; Germline Breast Cancer Type 2 Susceptibility Gene Mutation; Germline FANCD1 Gene Mutation; Germline XRCC11 Gene Mutation

Definition

A change in the nucleotide sequence of the BRCA2 gene that originates in the gametes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGermline BRCA2 Gene Mutation

Professional guidelines

PubMed

Karim AM, Eun Kwon J, Ali T, Jang J, Ullah I, Lee YG, Park DW, Park J, Jeang JW, Kang SC
Biochem Pharmacol 2023 Jun;212:115545. Epub 2023 Apr 11 doi: 10.1016/j.bcp.2023.115545. PMID: 37044296
Cortesi L, Rugo HS, Jackisch C
Target Oncol 2021 May;16(3):255-282. Epub 2021 Mar 12 doi: 10.1007/s11523-021-00796-4. PMID: 33710534Free PMC Article
Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Garcia Foncillas J, Ray-Coquard I, Penault-Llorca F, Foulkes WD, Turnbull C, Hanson H, Narod S, Arun BK, Aapro MS, Mandel JL, Normanno N, Lambrechts D, Vergote I, Anahory M, Baertschi B, Baudry K, Bignon YJ, Bollet M, Corsini C, Cussenot O, De la Motte Rouge T, Duboys de Labarre M, Duchamp F, Duriez C, Fizazi K, Galibert V, Gladieff L, Gligorov J, Hammel P, Imbert-Bouteille M, Jacot W, Kogut-Kubiak T, Lamy PJ, Nambot S, Neuzillet Y, Olschwang S, Rebillard X, Rey JM, Rideau C, Spano JP, Thomas F, Treilleux I, Vandromme M, Vendrell J, Vintraud M, Zarca D, Hughes KS, Alés Martínez JE
Eur J Cancer 2021 Mar;146:30-47. Epub 2021 Feb 10 doi: 10.1016/j.ejca.2020.12.023. PMID: 33578357

Recent clinical studies

Etiology

Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, Jezdic S, Ferrandino R, Westphalen CB, Castro E, Rodon J, Mateo J, Burghel GJ, Berger MF, Mandelker D, Turnbull C
Ann Oncol 2023 Mar;34(3):215-227. Epub 2022 Dec 16 doi: 10.1016/j.annonc.2022.12.003. PMID: 36529447
Guindalini RSC, Viana DV, Kitajima JPFW, Rocha VM, López RVM, Zheng Y, Freitas É, Monteiro FPM, Valim A, Schlesinger D, Kok F, Olopade OI, Folgueira MAAK
Sci Rep 2022 Mar 9;12(1):4190. doi: 10.1038/s41598-022-07383-1. PMID: 35264596Free PMC Article
Thorat MA, Balasubramanian R
Best Pract Res Clin Obstet Gynaecol 2020 May;65:18-31. Epub 2019 Nov 21 doi: 10.1016/j.bpobgyn.2019.11.006. PMID: 31862315
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
Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D
Medicine (Baltimore) 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. PMID: 27749552Free PMC Article

Diagnosis

Yadav S, Boddicker NJ, Na J, Polley EC, Hu C, Hart SN, Gnanaolivu RD, Larson N, Holtegaard S, Huang H, Dunn CA, Teras LR, Patel AV, Lacey JV, Neuhausen SL, Martinez E, Haiman C, Chen F, Ruddy KJ, Olson JE, John EM, Kurian AW, Sandler DP, O'Brien KM, Taylor JA, Weinberg CR, Anton-Culver H, Ziogas A, Zirpoli G, Goldgar DE, Palmer JR, Domchek SM, Weitzel JN, Nathanson KL, Kraft P, Couch FJ
J Clin Oncol 2023 Mar 20;41(9):1703-1713. Epub 2023 Jan 9 doi: 10.1200/JCO.22.01239. PMID: 36623243Free PMC Article
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
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article
Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D
Medicine (Baltimore) 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. PMID: 27749552Free PMC Article
Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR
Cancer 2015 Jan 1;121(1):25-33. Epub 2014 Sep 3 doi: 10.1002/cncr.29010. PMID: 25186627

Therapy

Tutt ANJ, Garber JE, Kaufman B, Viale G, Fumagalli D, Rastogi P, Gelber RD, de Azambuja E, Fielding A, Balmaña J, Domchek SM, Gelmon KA, Hollingsworth SJ, Korde LA, Linderholm B, Bandos H, Senkus E, Suga JM, Shao Z, Pippas AW, Nowecki Z, Huzarski T, Ganz PA, Lucas PC, Baker N, Loibl S, McConnell R, Piccart M, Schmutzler R, Steger GG, Costantino JP, Arahmani A, Wolmark N, McFadden E, Karantza V, Lakhani SR, Yothers G, Campbell C, Geyer CE Jr; OlympiA Clinical Trial Steering Committee and Investigators
N Engl J Med 2021 Jun 24;384(25):2394-2405. Epub 2021 Jun 3 doi: 10.1056/NEJMoa2105215. PMID: 34081848Free PMC Article
Cortesi L, Rugo HS, Jackisch C
Target Oncol 2021 May;16(3):255-282. Epub 2021 Mar 12 doi: 10.1007/s11523-021-00796-4. PMID: 33710534Free PMC Article
Golan T, Hammel P, Reni M, Van Cutsem E, Macarulla T, Hall MJ, Park JO, Hochhauser D, Arnold D, Oh DY, Reinacher-Schick A, Tortora G, Algül H, O'Reilly EM, McGuinness D, Cui KY, Schlienger K, Locker GY, Kindler HL
N Engl J Med 2019 Jul 25;381(4):317-327. Epub 2019 Jun 2 doi: 10.1056/NEJMoa1903387. PMID: 31157963Free PMC Article
Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, Delaloge S, Li W, Tung N, Armstrong A, Wu W, Goessl C, Runswick S, Conte P
N Engl J Med 2017 Aug 10;377(6):523-533. Epub 2017 Jun 4 doi: 10.1056/NEJMoa1706450. PMID: 28578601
Lord CJ, Ashworth A
Science 2017 Mar 17;355(6330):1152-1158. Epub 2017 Mar 16 doi: 10.1126/science.aam7344. PMID: 28302823Free PMC Article

Prognosis

Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, Jezdic S, Ferrandino R, Westphalen CB, Castro E, Rodon J, Mateo J, Burghel GJ, Berger MF, Mandelker D, Turnbull C
Ann Oncol 2023 Mar;34(3):215-227. Epub 2022 Dec 16 doi: 10.1016/j.annonc.2022.12.003. PMID: 36529447
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article
Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D
Medicine (Baltimore) 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. PMID: 27749552Free PMC Article
Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S
Gastroenterology 2015 Sep;149(3):604-13.e20. Epub 2015 May 14 doi: 10.1053/j.gastro.2015.05.006. PMID: 25980754Free PMC Article
Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR
Cancer 2015 Jan 1;121(1):25-33. Epub 2014 Sep 3 doi: 10.1002/cncr.29010. PMID: 25186627

Clinical prediction guides

Golan T, Hammel P, Reni M, Van Cutsem E, Macarulla T, Hall MJ, Park JO, Hochhauser D, Arnold D, Oh DY, Reinacher-Schick A, Tortora G, Algül H, O'Reilly EM, McGuinness D, Cui KY, Schlienger K, Locker GY, Kindler HL
N Engl J Med 2019 Jul 25;381(4):317-327. Epub 2019 Jun 2 doi: 10.1056/NEJMoa1903387. PMID: 31157963Free PMC Article
Litton JK, Rugo HS, Ettl J, Hurvitz SA, Gonçalves A, Lee KH, Fehrenbacher L, Yerushalmi R, Mina LA, Martin M, Roché H, Im YH, Quek RGW, Markova D, Tudor IC, Hannah AL, Eiermann W, Blum JL
N Engl J Med 2018 Aug 23;379(8):753-763. Epub 2018 Aug 15 doi: 10.1056/NEJMoa1802905. PMID: 30110579Free PMC Article
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article
Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S
Gastroenterology 2015 Sep;149(3):604-13.e20. Epub 2015 May 14 doi: 10.1053/j.gastro.2015.05.006. PMID: 25980754Free PMC Article
Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR
Cancer 2015 Jan 1;121(1):25-33. Epub 2014 Sep 3 doi: 10.1002/cncr.29010. PMID: 25186627

Recent systematic reviews

Bedrosian I, Somerfield MR, Achatz MI, Boughey JC, Curigliano G, Friedman S, Kohlmann WK, Kurian AW, Laronga C, Lynce F, Norquist BS, Plichta JK, Rodriguez P, Shah PD, Tischkowitz M, Wood M, Yadav S, Yao K, Robson ME
J Clin Oncol 2024 Feb 10;42(5):584-604. Epub 2024 Jan 4 doi: 10.1200/JCO.23.02225. PMID: 38175972
Matanes E, Volodarsky-Perel A, Eisenberg N, Rottenstreich M, Yasmeen A, Mitric C, Lau S, Salvador S, Gotlieb WH, Kogan L
J Minim Invasive Gynecol 2021 May;28(5):947-956. Epub 2020 Nov 27 doi: 10.1016/j.jmig.2020.11.023. PMID: 33249269
Tew WP, Lacchetti C, Ellis A, Maxian K, Banerjee S, Bookman M, Jones MB, Lee JM, Lheureux S, Liu JF, Moore KN, Muller C, Rodriguez P, Walsh C, Westin SN, Kohn EC
J Clin Oncol 2020 Oct 20;38(30):3468-3493. Epub 2020 Aug 13 doi: 10.1200/JCO.20.01924. PMID: 32790492Free PMC Article
Konstantinopoulos PA, Norquist B, Lacchetti C, Armstrong D, Grisham RN, Goodfellow PJ, Kohn EC, Levine DA, Liu JF, Lu KH, Sparacio D, Annunziata CM
J Clin Oncol 2020 Apr 10;38(11):1222-1245. Epub 2020 Jan 27 doi: 10.1200/JCO.19.02960. PMID: 31986064Free PMC Article
Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D
Medicine (Baltimore) 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. PMID: 27749552Free PMC Article

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