Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlapping with those in BRCA1 germline mutation carriers

Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ et al (2016) Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol 34:1460–1468. https://doi.org/10.1200/JCO.2015.65.0747

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cancer Genome Atlas Network (2012) Comprehensive molecular portraits of human breast tumours. Nature 490:61–70. https://doi.org/10.1038/nature11412

Article  CAS  Google Scholar 

Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B et al (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet 53:465–471. https://doi.org/10.1136/jmedgenet-2015-103672

Article  CAS  PubMed  Google Scholar 

Maxwell KN, Wubbenhorst B, D’Andrea K, Garman B, Long JM, Powers J et al (2015) Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genet Med 17:630–638. https://doi.org/10.1038/gim.2014.176

Article  CAS  PubMed  Google Scholar 

Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN et al (2017) The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. NPJ Breast Cancer 3:22. https://doi.org/10.1038/s41523-017-0024-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lu H-M, Li S, Black MH, Lee S, Hoiness R, Wu S et al (2019) Association of breast and ovarian cancers with predisposition genes identified by large-scale sequencing. JAMA Oncol 5:51. https://doi.org/10.1001/jamaoncol.2018.2956

Article  PubMed  Google Scholar 

Michaels ML, Miller JH (1992) The GO system protects organisms from the mutagenic effect of the spontaneous lesion 8-hydroxyguanine (7,8-dihydro-8-oxoguanine). J Bacteriol 174:6321–6325. https://doi.org/10.1128/jb.174.20.6321-6325.1992

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG et al (2003) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362:39–41. https://doi.org/10.1016/s0140-6736(03)13805-6

Article  CAS  PubMed  Google Scholar 

Jones S, Emmerson P, Maynard J, Best JM, Jordan S, Williams GT et al (2002) Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C–>T: a mutations. Hum Mol Genet 11:2961–2967. https://doi.org/10.1093/hmg/11.23.2961

Article  CAS  PubMed  Google Scholar 

Win AK, Dowty JG, Cleary SP, Kim H, Buchanan DD, Young JP et al (2014) Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology 146:1208-1211.e1-5. https://doi.org/10.1053/j.gastro.2014.01.022

Article  CAS  PubMed  Google Scholar 

Fulk K, LaDuca H, Black MH, Qian D, Tian Y, Yussuf A et al (2019) Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort. Fam Cancer 18:197–201. https://doi.org/10.1007/s10689-018-00114-4

Article  CAS  PubMed  Google Scholar 

Lang GT, Shi JX, Huang L, Cao AY, Zhang CH, Song CG et al (2020) Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk. Ann Transl Med 8:1417. https://doi.org/10.21037/atm-20-2999

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rennert G, Lejbkowicz F, Cohen I, Pinchev M, Rennert HS, Barnett-Griness O (2012) MutYH mutation carriers have increased breast cancer risk. Cancer 118:1989–1993. https://doi.org/10.1002/cncr.26506

Article  CAS  PubMed  Google Scholar 

Jones N, Vogt S, Nielsen M, Christian D, Wark PA, Eccles D et al (2009) Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 137:489–94.e1. https://doi.org/10.1053/j.gastro.2009.04.047

Article  PubMed  Google Scholar 

Jenkins MA, Croitoru ME, Monga N, Cleary SP, Cotterchio M, Hopper JL et al (2006) Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 15:312–314. https://doi.org/10.1158/1055-9965.Epi-05-0793

Article  CAS  PubMed  Google Scholar 

Beiner ME, Zhang WW, Zhang S, Gallinger S, Sun P, Narod SA (2009) Mutations of the MYH gene do not substantially contribute to the risk of breast cancer. Breast Cancer Res Treat 114:575–578. https://doi.org/10.1007/s10549-008-0042-1

Article  CAS  PubMed  Google Scholar 

Bono M, Fanale D, Incorvaia L, Cancelliere D, Fiorino A, Calò V et al (2021) Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge. ESMO Open 6:100235. https://doi.org/10.1016/j.esmoop.2021.100235

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu L, Hao X, Song Z et al (2021) Correlation between family history and characteristics of breast cancer. Sci Rep 11(1):6360. https://doi.org/10.1038/s41598-021-85899-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kong X, Liu Z, Cheng R et al (2020) Variation in breast cancer subtype incidence and distribution by race/ethnicity in the United States from 2010 to 2015. JAMA Netw Open. 3(10):e2020303. https://doi.org/10.1001/jamanetworkopen.2020.20303

Article  PubMed  PubMed Central  Google Scholar 

Thibodeau ML, Zhao EY, Reisle C, Ch'ng C, Wong HL, Shen Y et al (2019) Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis. Cold Spring Harb Mol Case Stud. https://doi.org/10.1101/mcs.a003681

Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, et al (2019) Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers. Ann Oncol 30:1071–1079. https://doi.org/10.1093/annonc/mdz132

Article  CAS  PubMed  PubMed Central  Google Scholar 

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