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Genetic Predisposition to Malignant Breast Neoplasm

MedGen UID:
1791022
•Concept ID:
C5554581
•
Finding

Definition

The predisposition of an individual to develop a malignant breast neoplasm based on their heredity. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenetic Predisposition to Malignant Breast Neoplasm

Professional guidelines

PubMed

NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.
Daly MB, Pal T, Maxwell KN, Churpek J, Kohlmann W, AlHilli Z, Arun B, Buys SS, Cheng H, Domchek SM, Friedman S, Giri V, Goggins M, Hagemann A, Hendrix A, Hutton ML, Karlan BY, Kassem N, Khan S, Khoury K, Kurian AW, Laronga C, Mak JS, Mansour J, McDonnell K, Menendez CS, Merajver SD, Norquist BS, Offit K, Rash D, Reiser G, Senter-Jamieson L, Shannon KM, Visvanathan K, Welborn J, Wick MJ, Wood M, Yurgelun MB, Dwyer MA, Darlow SD
J Natl Compr Canc Netw 2023 Oct;21(10):1000-1010. doi: 10.6004/jnccn.2023.0051. PMID: 37856201
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML; CGC, Karlan BY, Khan S, Klein C, Kohlmann W; CGC, Kurian AW, Laronga C, Litton JK, Mak JS; LCGC, Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G; CGC, Senter-Jamieson L; CGC, Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA
J Natl Compr Canc Netw 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001. PMID: 33406487
Diagnosis and Treatment of Breast Cancer in Young Women.
Rossi L, Mazzara C, Pagani O
Curr Treat Options Oncol 2019 Nov 27;20(12):86. doi: 10.1007/s11864-019-0685-7. PMID: 31776799

Recent clinical studies

Etiology

Breast cancer risk in NF1-deleted patients.
Pacot L, Masliah-Planchon J, Petcu A, Terris B, Gauthier Villars M, Lespinasse J, Wolkenstein P, Vincent-Salomon A, Vidaud D, Pasmant E
J Med Genet 2024 Apr 19;61(5):428-429. doi: 10.1136/jmg-2023-109682. PMID: 38154814
Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.
Yoshimura A, Imoto I, Iwata H
Int J Mol Sci 2022 Jul 5;23(13) doi: 10.3390/ijms23137481. PMID: 35806485Free PMC Article
Genetic testing today.
Euhus D
Ann Surg Oncol 2014 Oct;21(10):3209-15. Epub 2014 Jul 17 doi: 10.1245/s10434-014-3906-0. PMID: 25029991
Hereditary tumours.
Baudi F
Biomed Res Int 2013;2013:490357. Epub 2013 May 14 doi: 10.1155/2013/490357. PMID: 23762848Free PMC Article
Male breast cancer: risk factors, biology, diagnosis, treatment, and survivorship.
Ruddy KJ, Winer EP
Ann Oncol 2013 Jun;24(6):1434-43. Epub 2013 Feb 20 doi: 10.1093/annonc/mdt025. PMID: 23425944

Diagnosis

Diagnosis and Treatment of Breast Cancer in Young Women.
Rossi L, Mazzara C, Pagani O
Curr Treat Options Oncol 2019 Nov 27;20(12):86. doi: 10.1007/s11864-019-0685-7. PMID: 31776799
Genetic and Genomic Advances in Breast Cancer Diagnosis and Treatment.
Walker-Smith TL, Peck J
Nurs Womens Health 2019 Dec;23(6):518-525. Epub 2019 Oct 25 doi: 10.1016/j.nwh.2019.09.003. PMID: 31669147
Breast Cancer Epidemiology, Prevention, and Screening.
Winters S, Martin C, Murphy D, Shokar NK
Prog Mol Biol Transl Sci 2017;151:1-32. Epub 2017 Oct 10 doi: 10.1016/bs.pmbts.2017.07.002. PMID: 29096890
Bilateral breast cancers.
Narod SA
Nat Rev Clin Oncol 2014 Mar;11(3):157-66. Epub 2014 Feb 4 doi: 10.1038/nrclinonc.2014.3. PMID: 24492834
Male breast cancer: risk factors, biology, diagnosis, treatment, and survivorship.
Ruddy KJ, Winer EP
Ann Oncol 2013 Jun;24(6):1434-43. Epub 2013 Feb 20 doi: 10.1093/annonc/mdt025. PMID: 23425944

Therapy

Alcohol consumption, blood DNA methylation and breast cancer: a Mendelian randomisation study.
Zhou X, Yu L, Wang L, Xiao J, Sun J, Zhou Y, Xu X, Xu W, Spiliopoulou A, Timofeeva M, Zhang X, He Y, Yang H, Campbell H, Zhang B, Zhu Y, Theodoratou E, Li X
Eur J Epidemiol 2022 Jul;37(7):701-712. Epub 2022 Jun 16 doi: 10.1007/s10654-022-00886-1. PMID: 35708873Free PMC Article
Coffee consumption and risk of breast cancer: A Mendelian randomization study.
Ellingjord-Dale M, Papadimitriou N, Katsoulis M, Yee C, Dimou N, Gill D, Aune D, Ong JS, MacGregor S, Elsworth B, Lewis SJ, Martin RM, Riboli E, Tsilidis KK
PLoS One 2021;16(1):e0236904. Epub 2021 Jan 19 doi: 10.1371/journal.pone.0236904. PMID: 33465101Free PMC Article
SEOM clinical guidelines in hereditary breast and ovarian cancer (2019).
González-Santiago S, Ramón Y Cajal T, Aguirre E, Alés-Martínez JE, Andrés R, Balmaña J, Graña B, Herrero A, Llort G, González-Del-Alba A; SEOM Hereditary Cancer Working Group
Clin Transl Oncol 2020 Feb;22(2):193-200. Epub 2019 Dec 30 doi: 10.1007/s12094-019-02262-0. PMID: 31889241
Diagnosis and Treatment of Breast Cancer in Men.
Zehr KR
Radiol Technol 2019 Sep;91(1):51M-61M. PMID: 31471487
Familial leukemias.
Wiernik PH
Curr Treat Options Oncol 2015 Feb;16(2):8. doi: 10.1007/s11864-014-0323-3. PMID: 25762123

Prognosis

Epidemiological and Genetic Analyses of Schizophrenia and Breast Cancer.
Tang M, Wu X, Zhang W, Cui H, Zhang L, Yan P, Yang C, Wang Y, Chen L, Xiao C, Liu Y, Zou Y, Yang C, Zhang L, Yao Y, Liu Z, Li J, Jiang X, Zhang B
Schizophr Bull 2024 Mar 7;50(2):317-326. doi: 10.1093/schbul/sbad106. PMID: 37467357Free PMC Article
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
Li JY, Jing R, Wei H, Wang M, Xiaowei Q, Liu H, Jian L, Ou JH, Jiang WH, Tian FG, Sheng Y, Li HY, Xu H, Zhang RS, Guan AH, Liu K, Jiang HC, Ren Y, He JJ, Huang W, Liao N, Cai X, Ming J, Ling R, Xu Y, Hu CY, Zhang J, Guo B, Ouyang L, Shuai P, Liu Z, Zhong L, Zeng Z, Zhang T, Xuan Z, Tan X, Liang J, Pan Q, Chen L, Zhang F, Fan LJ, Zhang Y, Yang X, BoLi J, Chen C, Jiang J
Int J Cancer 2019 Jan 15;144(2):281-289. Epub 2018 Nov 8 doi: 10.1002/ijc.31601. PMID: 29752822
Familial leukemias.
Wiernik PH
Curr Treat Options Oncol 2015 Feb;16(2):8. doi: 10.1007/s11864-014-0323-3. PMID: 25762123
Male breast cancer: risk factors, biology, diagnosis, treatment, and survivorship.
Ruddy KJ, Winer EP
Ann Oncol 2013 Jun;24(6):1434-43. Epub 2013 Feb 20 doi: 10.1093/annonc/mdt025. PMID: 23425944
Cowden syndrome.
Farooq A, Walker LJ, Bowling J, Audisio RA
Cancer Treat Rev 2010 Dec;36(8):577-83. Epub 2010 May 23 doi: 10.1016/j.ctrv.2010.04.002. PMID: 20580873

Clinical prediction guides

Polygenic risk scores and breast cancer risk prediction.
Roberts E, Howell S, Evans DG
Breast 2023 Feb;67:71-77. Epub 2023 Jan 10 doi: 10.1016/j.breast.2023.01.003. PMID: 36646003Free PMC Article
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
Li JY, Jing R, Wei H, Wang M, Xiaowei Q, Liu H, Jian L, Ou JH, Jiang WH, Tian FG, Sheng Y, Li HY, Xu H, Zhang RS, Guan AH, Liu K, Jiang HC, Ren Y, He JJ, Huang W, Liao N, Cai X, Ming J, Ling R, Xu Y, Hu CY, Zhang J, Guo B, Ouyang L, Shuai P, Liu Z, Zhong L, Zeng Z, Zhang T, Xuan Z, Tan X, Liang J, Pan Q, Chen L, Zhang F, Fan LJ, Zhang Y, Yang X, BoLi J, Chen C, Jiang J
Int J Cancer 2019 Jan 15;144(2):281-289. Epub 2018 Nov 8 doi: 10.1002/ijc.31601. PMID: 29752822
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article
Genetics of breast cancer: a topic in evolution.
Shiovitz S, Korde LA
Ann Oncol 2015 Jul;26(7):1291-9. Epub 2015 Jan 20 doi: 10.1093/annonc/mdv022. PMID: 25605744Free PMC Article
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
Guidugli L, Pankratz VS, Singh N, Thompson J, Erding CA, Engel C, Schmutzler R, Domchek S, Nathanson K, Radice P, Singer C, Tonin PN, Lindor NM, Goldgar DE, Couch FJ
Cancer Res 2013 Jan 1;73(1):265-75. Epub 2012 Oct 29 doi: 10.1158/0008-5472.CAN-12-2081. PMID: 23108138Free PMC Article

Recent systematic reviews

Contraceptives and cancer risks in BRCA1/2 pathogenic variant carriers: a systematic review and meta-analysis.
van Bommel MHD, IntHout J, Veldmate G, Kets CM, de Hullu JA, van Altena AM, Harmsen MG
Hum Reprod Update 2023 Mar 1;29(2):197-217. doi: 10.1093/humupd/dmac038. PMID: 36383189Free PMC Article
Global guidelines for breast cancer screening: A systematic review.
Ren W, Chen M, Qiao Y, Zhao F
Breast 2022 Aug;64:85-99. Epub 2022 Apr 19 doi: 10.1016/j.breast.2022.04.003. PMID: 35636342Free PMC Article
Cancer predisposition and germline CTNNA1 variants.
Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I, Hüneburg R, Aretz S, Colas C, Oliveira C
Eur J Med Genet 2021 Oct;64(10):104316. Epub 2021 Aug 21 doi: 10.1016/j.ejmg.2021.104316. PMID: 34425242
Management of Male Breast Cancer: ASCO Guideline.
Hassett MJ, Somerfield MR, Baker ER, Cardoso F, Kansal KJ, Kwait DC, Plichta JK, Ricker C, Roshal A, Ruddy KJ, Safer JD, Van Poznak C, Yung RL, Giordano SH
J Clin Oncol 2020 Jun 1;38(16):1849-1863. Epub 2020 Feb 14 doi: 10.1200/JCO.19.03120. PMID: 32058842
Male breast cancer: risk factors, biology, diagnosis, treatment, and survivorship.
Ruddy KJ, Winer EP
Ann Oncol 2013 Jun;24(6):1434-43. Epub 2013 Feb 20 doi: 10.1093/annonc/mdt025. PMID: 23425944

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