Rennert G, Bisland-Naggan S, Barnett-Griness O, Bar-Joseph N, Zhang S, Rennert HS, et al. Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med. 2007;357:115–23.
Parise CA, Caggiano V. Breast Cancer Survival Defined by the ER/PR/HER2 Subtypes and a Surrogate Classification according to Tumor Grade and Immunohistochemical Biomarkers. J Cancer Epidemiol. 2014;2014:469251.
PubMed PubMed Central Google Scholar
Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, et al. Molecular portraits of human breast tumours. Nature. 2000;406:747–52.
van ‘t Veer LJ, Dai H, van de Vijver MJ, He YD, Hart AA, Mao M, et al. Gene expression profiling predicts clinical outcome of breast cancer. Nature. 2002;415:530–6.
Angus L, Smid M, Wilting SM, van Riet J, Van Hoeck A, Nguyen L, et al. The genomic landscape of metastatic breast cancer highlights changes in mutation and signature frequencies. Nat Genet. 2019;51:1450–8.
PubMed PubMed Central CAS Google Scholar
Nathanson KL, Wooster R, Weber BL. Breast cancer genetics: what we know and what we need. Nat Med. 2001;7:552–6.
Breast Cancer Association C, Dorling L, Carvalho S, Allen J, Gonzalez-Neira A, Luccarini C, et al. Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. N. Engl J Med. 2021;384:428–39.
Siegel RL, Miller KD, Wagle NS, Jemal A. Cancer statistics, 2023. CA Cancer J Clin. 2023;73:17–48.
Piccart-Gebhart MJ, Procter M, Leyland-Jones B, Goldhirsch A, Untch M, Smith I, et al. Trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer. N Engl J Med. 2005;353:1659–72.
Davies H, Glodzik D, Morganella S, Yates LR, Staaf J, Zou X, et al. HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures. Nat Med. 2017;23:517–25.
PubMed PubMed Central CAS Google Scholar
Nguyen L, Martens JWM, Van Hoeck A, Cuppen E. Pan-cancer landscape of homologous recombination deficiency. Nat Commun. 2020;11:5584.
PubMed PubMed Central CAS Google Scholar
Staaf J, Glodzik D, Bosch A, Vallon-Christersson J, Reutersward C, Hakkinen J, et al. Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study. Nat Med. 2019;25:1526–33.
PubMed PubMed Central CAS Google Scholar
Telli ML, Timms KM, Reid J, Hennessy B, Mills GB, Jensen KC, et al. Homologous Recombination Deficiency (HRD) Score Predicts Response to Platinum-Containing Neoadjuvant Chemotherapy in Patients with Triple-Negative Breast Cancer. Clin Cancer Res. 2016;22:3764–73.
PubMed PubMed Central CAS Google Scholar
Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, et al. Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation. N Engl J Med. 2017;377:523–33.
Litton JK, Rugo HS, Ettl J, Hurvitz SA, Goncalves A, Lee KH, et al. Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation. N Engl J Med. 2018;379:753–63.
PubMed PubMed Central CAS Google Scholar
van Wijk LM, Kramer CJH, Vermeulen S, Ter Haar NT, de Jonge MM, Kroep JR, et al. The RAD51-FFPE Test; Calibration of a functional homologous recombination deficiency test on diagnostic endometrial and ovarian tumor blocks. Cancers. 2021;13:2994.
Kramer CJ, Llop-Guevara A, Yaniz-Galende E, Pellegrino B, Ter Haar NT, Herencia-Ropero A, et al. RAD51 as a biomarker for homologous recombination deficiency in high-grade serous ovarian carcinoma: robustness and interobserver variability of the RAD51 test. J Pathol Clin Res. 2023;9:442–8.
Castroviejo-Bermejo M, Cruz C, Llop-Guevara A, Gutierrez-Enriquez S, Ducy M, Ibrahim YH, et al. A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation. EMBO Mol Med. 2018;10:e9172.
Cruz C, Castroviejo-Bermejo M, Gutierrez-Enriquez S, Llop-Guevara A, Ibrahim YH, Gris-Oliver A, et al. RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer. Ann Oncol. 2018;29:1203–10.
PubMed PubMed Central CAS Google Scholar
Eikesdal HP, Yndestad S, Elzawahry A, Llop-Guevara A, Gilje B, Blix ES, et al. Olaparib monotherapy as primary treatment in unselected triple negative breast cancer. Ann Oncol. 2021;32:240–9.
Llop-Guevara A, Loibl S, Villacampa G, Vladimirova V, Schneeweiss A, Karn T, et al. Association of RAD51 with homologous recombination deficiency (HRD) and clinical outcomes in untreated triple-negative breast cancer (TNBC): analysis of the GeparSixto randomized clinical trial. Ann Oncol. 2021;32:1590–6.
van Wijk LM, Vermeulen S, Ter Haar NT, Kramer CJH, Terlouw D, Vrieling H, et al. Performance of a RAD51-based functional HRD test on paraffin-embedded breast cancer tissue. Breast Cancer Res Treat. 2023;202:607–16.
PubMed PubMed Central Google Scholar
Meijer TG, Verkaik NS, Sieuwerts AM, van Riet J, Naipal KAT, van Deurzen CHM, et al. Functional ex vivo assay reveals homologous recombination deficiency in breast cancer beyond BRCA gene defects. Clin Cancer Res. 2018;24:6277–87.
Fu S, Yao S, Yuan Y, Previs RA, Elias AD, Carvajal RD, et al. Multicenter Phase II Trial of the WEE1 inhibitor adavosertib in refractory solid tumors harboring CCNE1 amplification. J Clin Oncol. 2023;41:1725–34.
Drews RM, Hernando B, Tarabichi M, Haase K, Lesluyes T, Smith PS, et al. A pan-cancer compendium of chromosomal instability. Nature. 2022;606:976–83.
PubMed PubMed Central CAS Google Scholar
Saal LH, Vallon-Christersson J, Hakkinen J, Hegardt C, Grabau D, Winter C, et al. The Sweden Cancerome Analysis Network - Breast (SCAN-B) Initiative: a large-scale multicenter infrastructure towards implementation of breast cancer genomic analyses in the clinical routine. Genome Med. 2015;7:20.
PubMed PubMed Central Google Scholar
Ryden L, Loman N, Larsson C, Hegardt C, Vallon-Christersson J, Malmberg M, et al. Minimizing inequality in access to precision medicine in breast cancer by real-time population-based molecular analysis in the SCAN-B initiative. Br J Surg. 2018;105:e158–e68.
Robbe P, Popitsch N, Knight SJL, Antoniou P, Becq J, He M, et al. Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project. Genet Med. 2018;20:1196–205.
PubMed PubMed Central CAS Google Scholar
Guo Q, Lakatos E, Bakir IA, Curtius K, Graham TA, Mustonen V. The mutational signatures of formalin fixation on the human genome. Nat Commun. 2022;13:4487.
PubMed PubMed Central CAS Google Scholar
Lam SY, Ioannou A, Konstanti P, Visseren T, Doukas M, Peppelenbosch MP, et al. Technical challenges regarding the use of formalin-fixed paraffin embedded (FFPE) tissue specimens for the detection of bacterial alterations in colorectal cancer. BMC Microbiol. 2021;21:297.
PubMed PubMed Central CAS Google Scholar
Spencer DH, Sehn JK, Abel HJ, Watson MA, Pfeifer JD, Duncavage EJ. Comparison of clinical targeted next-generation sequence data from formalin-fixed and fresh-frozen tissue specimens. J Mol Diagn. 2013;15:623–33.
PubMed PubMed Central CAS Google Scholar
Akhoundova D, Rubin MA. The grand challenge of moving cancer whole-genome sequencing into the clinic. Nat Med. 2024;30:39–40.
Specialisten FMSFM. Breast cancer - Criteria for referral Clinical Genetics (Borstkanker - Criteria voor verwijzing KG) [Available from: https://richtlijnendatabase.nl/richtlijn/borstkanker/screening/screening_buiten_het_bob/criteria_voor_verwijzing_kg.html.
Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, et al. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19:77–102.
Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, et al. Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol. 2019;37:453–60.
Loibl S, Andre F, Bachelot T, Barrios CH, Bergh J, Burstein HJ, et al. Early breast cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol. 2024;35:159–82.
Aine M, Boyaci C, Hartman J, Hakkinen J, Mitra S, Campos AB, et al. Molecular analyses of triple-negative breast cancer in the young and elderly. Breast Cancer Res. 2021;23:20.
PubMed PubMed Central CAS Google Scholar
Danecek P, Bonfield JK, Liddle J, Marshall J, Ohan V, Pollard MO, et al. Twelve years of SAMtools and BCFtools. Gigascience. 2021;10.
Breast cancer, Dutch Guideline, version 2.0. In: NABON IKN-, editor. 2012.
Tan PH, Ellis I, Allison K, Brogi E, Fox SB, Lakhani S, et al. The 2019 World Health Organization classification of tumours of the breast. Histopathology. 2020;77:181–5.
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