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Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland | Scientific…

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Torre, L. A. et al. Global cancer statistics, 2012. CA Cancer J. Clin. 65(2), 87108 (2015).

Article Google Scholar

Finnish Cancer Registry. Cancer Statistics Application (Finnish Cancer Registry, 2020).

Google Scholar

Nagy, R., Sweet, K. & Eng, C. Highly penetrant hereditary cancer syndromes. Oncogene 23(38), 64456470. https://doi.org/10.1038/sj.onc.1207714 (2004).

CAS Article PubMed Google Scholar

Wendt, C. & Margolin, S. Identifying breast cancer susceptibility genesA review of the genetic background in familial breast cancer. Acta Oncol. 58(2), 135146. https://doi.org/10.1080/0284186X.2018.1529428 (2019).

CAS Article PubMed Google Scholar

Melchor, L. & Bentez, J. The complex genetic landscape of familial breast cancer. Hum. Genet. 132(8), 845863. https://doi.org/10.1007/s00439-013-1299-y (2013).

CAS Article PubMed Google Scholar

Vahteristo, P., Eerola, H., Tamminen, A., Blomqvist, C. & Nevanlinna, H. A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families. Br. J. Cancer 84(5), 704708 (2001).

CAS Article Google Scholar

Eerola, H., Aittomki, K. & Nevanlinna, H. Genetic susceptibility to breast cancer. Finnish Med. J. 46, 46954701 (2002).

Google Scholar

Li, J. et al. Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort. Int. J. Cancer 144(5), 11951204. https://doi.org/10.1002/ijc.31841 (2019).

CAS Article PubMed Google Scholar

Syrjkoski, K. et al. Population-based study of BRCA1 and BRCA2 mutations in 1035 unselected Finnish breast cancer patients. J. Natl. Cancer Inst. 92(18), 15291531. https://doi.org/10.1093/jnci/92.18.1529 (2000).

Article PubMed Google Scholar

Buys, S. S. et al. A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer 123(10), 17211730. https://doi.org/10.1002/cncr.30498 (2017).

CAS Article PubMed Google Scholar

Kuchenbaecker, K. B. et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317(23), 24022416. https://doi.org/10.1001/jama.2017.7112 (2017).

CAS Article PubMed Google Scholar

Chen, S. & Parmigiani, G. Meta-analysis of BRCA1 and BRCA2 penetrance. J. Clin. Oncol. 25(11), 13291333. https://doi.org/10.1200/JCO.2006.09.1066 (2007).

Article PubMed Google Scholar

Tai, Y. C., Domchek, S., Parmigiani, G. & Chen, S. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J. Natl. Cancer Inst. 99(23), 18111814. https://doi.org/10.1093/jnci/djm203 (2007).

CAS Article PubMed Google Scholar

Mersch, J. et al. Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian. Cancer 121(2), 269275. https://doi.org/10.1002/cncr.29041 (2015).

CAS Article PubMed Google Scholar

Rebbeck, T. R. et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA 313(13), 13471361. https://doi.org/10.1001/jama.2014.5985 (2015).

CAS Article PubMed PubMed Central Google Scholar

GeneReviews. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. https://www.ncbi.nlm.nih.gov/books/NBK1247/ (Accessed 20 June 2020).

Metcalfe, K. et al. International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation. Br. J. Cancer 121(1), 1521. https://doi.org/10.1038/s41416-019-0446-1 (2019).

Article PubMed PubMed Central Google Scholar

Tschernichovsky, R. & Goodman, A. Risk-reducing strategies for ovarian cancer in BRCA mutation carriers: A balancing act. Oncologist 22(4), 450459. https://doi.org/10.1634/theoncologist.2016-0444 (2017).

CAS Article PubMed PubMed Central Google Scholar

Terry, M., Daly, M. & Phillips, K. Y. Risk-reducing oophorectomy and breast cancer risk across the spectrum of familial risk. J. Natl. Cancer Inst. 111(3), 331334 (2019).

Article Google Scholar

Auranen, A. Perinnllisen sypalttiuden tunnistamisella on merkityst mys gynekologisten sypien ehkisyss. Duodecim 134, 12621264 (2018).

Google Scholar

Kotsopoulos, J. BRCA mutations and breast cancer prevention. Cancers (Basel) 10(12), 524. https://doi.org/10.3390/cancers10120524 (2018).

CAS Article Google Scholar

Li, X. et al. Effectiveness of prophylactic surgeries in BRCA1 or BRCA2 mutation carriers: A meta-analysis and systematic review. Clin. Cancer Res. 22(15), 39713981. https://doi.org/10.1158/1078-0432.CCR-15-1465 (2016).

CAS Article PubMed Google Scholar

Pierce, L. J. et al. Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J. Clin. Oncol. 24(16), 24372443. https://doi.org/10.1200/JCO.2005.02.7888 (2006).

Article PubMed Google Scholar

George, A., Kaye, S. & Banerjee, S. Delivering widespread BRCA testing and PARP inhibition to patients with ovarian cancer. Nat. Rev. Clin. Oncol. 14(5), 284296. https://doi.org/10.1038/nrclinonc.2016.191 (2017).

CAS Article PubMed Google Scholar

Robson, M. E. et al. American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J. Clin. Oncol. 33(31), 36603667. https://doi.org/10.1200/JCO.2015.63.0996 (2015).

CAS Article PubMed Google Scholar

Manchanda, R., Sun, S. & Patel, S. Economic evaluation of population-based BRCA1/BRCA2 mutation testing across multiple countries and health. Cancer 12(7), 1929. https://doi.org/10.3390/cancers12071929 (2020).

CAS Article Google Scholar

Yang, X. et al. Cancer risks associated with germline PALB2 pathogenic variants: An international study of 524 families. J. Clin. Oncol. 38(7), 674685. https://doi.org/10.1200/JCO.19.01907 (2020).

CAS Article PubMed Google Scholar

Kankuri-Tammilehto, M., Vihinen, P. & Schleutker, J. Heredity of cancer. Finnish Med. J. 14, 880886 (2019).

Google Scholar

Kiiski, J. I. et al. FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population. Breast Cancer Res. Treat. 166(1), 217226. https://doi.org/10.1007/s10549-017-4388-0 (2017).

CAS Article PubMed PubMed Central Google Scholar

Mavaddat, N., Antoniou, A. C., Easton, D. F. & Garcia-Closas, M. Genetic susceptibility to breast cancer. Mol. Oncol. 4(3), 174191. https://doi.org/10.1016/j.molonc.2010.04.011 (2010).

CAS Article PubMed PubMed Central Google Scholar

Barkardottir, R. et al. Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families. Eur. J. Hum. Genet. 9(10), 773779 (2001).

CAS Article Google Scholar

Vehmanen, P. et al. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum. Mol. Genet. 6, 2309 (1997).

CAS Article Google Scholar

Huusko, P. et al. Evidence of founder mutations in Finnish BRCA1 and BRCA2 families. Am. J. Hum. Genet. 62, 1544 (1998).

CAS Article Google Scholar

Sarantaus, L. et al. Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur. J. Hum. Genet. 8(10), 757763 (2000).

CAS Article Google Scholar

Thomassen, M. et al. BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. Actancology 47, 772777 (2008).

CAS Google Scholar

Moller, P. et al. Genetic epidemiology of BRCA mutationsFamily history detects less than 50% of the mutation carriers. Eur. J. Cancer 43, 17131717 (2007).

Article Google Scholar

Rebbeck, T. et al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum. Mutat. 35, 593 (2018).

Article Google Scholar

Li, J. et al. Cancer therapy and prevention open access prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort. Int. J. Cancer 144(5), 11951204 (2019).

CAS Article Google Scholar

Kremeyer, B. et al. The BRCA1 exon 13 duplication in the Swedish population. Fam. Cancer 4, 191194 (2005).

Article Google Scholar

Tonin, P. et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat. Med. 2, 11791183 (1996).

CAS Article Google Scholar

Iyevleva, A. G. et al. Non-founder BRCA1 mutations in Russian breast cancer patients. Cancer Lett. 298, 258263 (2010).

CAS Article Google Scholar

Ghadirian, P. et al. The contribution of founder mutations to earlyonset breast cancer in French-Canadian women. Clin. Genet. 76, 421426 (2009).

CAS Article Google Scholar

Daly, M. B. et al. NCCN guidelines insights: Genetic/familial high-risk assessment: Breast and ovarian, version 2.2017. J. Natl. Compr. Cancer Netw. 15(1), 920. https://doi.org/10.6004/jnccn.2017.0003 (2017).

CAS Article Google Scholar

Yang, X. et al. Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study. J. Med. Genet. 55(8), 546554. https://doi.org/10.1136/jmedgenet-2018-105313 (2018).

CAS Article PubMed Google Scholar

Mars, N. et al. The role of polygenic risk and susceptibility genes in breast cancer over the course of life. Nat. Commun. 11(1), 6383. https://doi.org/10.1038/s41467-020-19966-5 (2020).

ADS CAS Article PubMed PubMed Central Google Scholar

Finnish Breast Cancer Group. Rintasyvn valtakunnallinen diagnostiikka- ja hoitosuositus 2019. (Accessed 20 June).

Phi, X. A. et al. Magnetic resonance imaging improves breast screening sensitivity in BRCA mutation carriers age 50 years: Evidence from an individual patient data meta-analysis. J. Clin. Oncol. 33(4), 349356. https://doi.org/10.1200/JCO.2014.56.6232 (2015).

Article PubMed Google Scholar

Paluch-Shimon, S. et al. Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. Ann. Oncol. 27(suppl 5), 103110. https://doi.org/10.1093/annonc/mdw327 (2016).

Article Google Scholar

Boyle, P. Triple-negative breast cancer: Epidemiological considerations and recommendations. Ann. Oncol. 23(Suppl 6), 712. https://doi.org/10.1093/annonc/mds187 (2012).

Article Google Scholar

Foulces, W. D., Smith, I. E. & Reis-Filho, J. S. Triple-negative breast cancer. N. Engl. J. Med. 363, 19381948. https://doi.org/10.1056/NEJMra1001389 (2010).

Article Google Scholar

Schaapveld, M. et al. The impact of adjuvant therapy on contralateral breast cancer risk and the prognostic significance of contralateral breast cancer: A population based study in the Netherlands. Breast Cancer Res. Treat. 110(1), 189197. https://doi.org/10.1007/s10549-007-9709-2 (2008).

CAS Article PubMed Google Scholar

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Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland | Scientific...

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