Immunophenotype
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ER-positive |
22% |
77% |
53% |
Mavaddat et al., 2012Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M et al. (2012) Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 21:134-147.
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Heikkinen et al., 2009Heikkinen T, Kärkkäinen H, Aaltonen K, Milne RL, Heikkilä P, Aittomäki K, Blomqvist C and Nevanlinna H (2009) The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 15:3214-3222.
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PR-positive |
21% |
64% |
43% |
Mavaddat et al., 2012Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M et al. (2012) Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 21:134-147.
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Heikkinen et al., 2009Heikkinen T, Kärkkäinen H, Aaltonen K, Milne RL, Heikkilä P, Aittomäki K, Blomqvist C and Nevanlinna H (2009) The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 15:3214-3222.
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HER2-positive |
10% |
13% |
4% |
Mavaddat et al., 2012Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M et al. (2012) Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 21:134-147.
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Heikkinen et al., 2009Heikkinen T, Kärkkäinen H, Aaltonen K, Milne RL, Heikkilä P, Aittomäki K, Blomqvist C and Nevanlinna H (2009) The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 15:3214-3222.
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Cyclin D1 |
Usually negative |
Usually positive |
Usually negative/Low |
Palacios et al., 2005Palacios J, Honrado E, Osorio A, Cazorla A, Sarrió D, Barroso A, Rodríguez S, Cigudosa JC, Diez O, Alonso C et al. (2005) Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers. Breast Cancer Res Treat 90:5-14., Heikkinen et al., 2009Heikkinen T, Kärkkäinen H, Aaltonen K, Milne RL, Heikkilä P, Aittomäki K, Blomqvist C and Nevanlinna H (2009) The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 15:3214-3222.
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Armes et al., 1999Armes JE, Trute L, White D, Southey MC, Hammet F, Tesoriero A, Hutchins AM, Dite GS, McCredie MR, Giles GG et al. (1999) Distinct molecular pathogeneses of early-onset breast cancers in BRCA1 and BRCA2 mutation carriers: a population-based study. Cancer Res 59:2011-2017.
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Cyclins E, A and B1 |
Usually positive |
Usually negative |
- |
Palacios et al., 2005Palacios J, Honrado E, Osorio A, Cazorla A, Sarrió D, Barroso A, Rodríguez S, Cigudosa JC, Diez O, Alonso C et al. (2005) Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers. Breast Cancer Res Treat 90:5-14.
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p16, p27 and p21 |
Usually negative |
Usually positive |
- |
Palacios et al., 2005Palacios J, Honrado E, Osorio A, Cazorla A, Sarrió D, Barroso A, Rodríguez S, Cigudosa JC, Diez O, Alonso C et al. (2005) Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers. Breast Cancer Res Treat 90:5-14.
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PTEN loss |
> 80% |
- |
- |
Phuah et al., 2012Phuah SY, Looi LM, Hassan N, Rhodes A, Dean S, Taib NA, Yip CH and Teo SH (2012) Triple-negative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer. Breast Cancer Res 14:R142.
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Saal et al., 2008Saal LH, Gruvberger-Saal SK, Persson C, Lövgren K, Jumppanen M, Staaf J, Jönsson G, Pires MM, Maurer M, Holm K et al. (2008) Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair. Nat Genet 40:102-107.
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Basal markers |
Usually positive |
Usually negative |
Usually negative |
Honrado et al., 2006Honrado E, Osorio A, Palacios J and Benitez J (2012) Pathology and gene expression of hereditary breast tumors associated with BRCA1, BRCA2 and CHEK2 gene mutations. Oncogene 25:5837-5845., Heikkinen et al., 2009Heikkinen T, Kärkkäinen H, Aaltonen K, Milne RL, Heikkilä P, Aittomäki K, Blomqvist C and Nevanlinna H (2009) The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 15:3214-3222.Armes et al., 1999Armes JE, Trute L, White D, Southey MC, Hammet F, Tesoriero A, Hutchins AM, Dite GS, McCredie MR, Giles GG et al. (1999) Distinct molecular pathogeneses of early-onset breast cancers in BRCA1 and BRCA2 mutation carriers: a population-based study. Cancer Res 59:2011-2017.
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Ki-67 |
Higher expressiona
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Similara |
Higher expressiona |
Heikkinen et al., 2009Heikkinen T, Kärkkäinen H, Aaltonen K, Milne RL, Heikkilä P, Aittomäki K, Blomqvist C and Nevanlinna H (2009) The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 15:3214-3222.
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Genetic alterations
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TP53 somatic mutationb
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67-95% |
66% |
- |
Manié et al., 2009Manié E, Vincent-Salomon A, Lehmann-Che J, Pierron G, Turpin E, Warcoin M, Gruel N, Lebigot I, Sastre-Garau X, Lidereau R et al. (2009) High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors. Cancer Res 69:663-671.; Crook et al., 1998Crook T, Crossland S, Crompton MR, Osin P and Gusterson BA (1997) p53 mutations in BRCA1-associated familial breast cancer. Lancet 350:638-639.
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BRCA or PALB2 LOH |
84-100% |
54-83% |
0-33% |
Martins et al., 2012Martins FC, De S, Almendro V, Gönen M, Park SY, Blum JL, Herlihy W, Ethington G, Schnitt SJ, Tung N et al. (2012) Evolutionary pathways in BRCA1-associated breast tumors. Cancer Discov 2:503-511.; Tung et al., 2010Tung N, Miron A, Schnitt SJ, Gautam S, Fetten K, Kaplan J, Yassin Y, Buraimoh A, Kim JY, Szász AM et al. (2010) Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers. Breast Cancer Res 12:R95.; Osorio et al., 2002Osorio A, de la Hoya M, Rodríguez-López R, Martínez-Ramírez A, Cazorla A, Granizo JJ, Esteller M, Rivas C, Caldés T and Benítez J (2002) Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer. Int J Cancer 99:305-309.; Hartley, 2014Hartley T, Cavallone L, Sabbaghian N, Silva-Smith R, Hamel N, Aleynikova O, Smith E, Hastings V, Pinto P, Tischkowitz M et al. (2014) Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada. Hered Cancer Clin Pract 12:19.; Tischkowitz et al., 2007Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, van Beers EH, Li L, Khalil T, Quenneville LA et al. (2007) Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci U S A 104:6788-6793.; Maxwell et al., 2017Maxwell KN, Wubbenhorst B, Wenz BM, De Sloover D, Pluta J, Emery L, Barrett A, Kraya AA, Anastopoulos IN, Yu S et al. (2017) BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers. Nat Commun 8:319.. |
MYC amplification |
18-53% |
62% |
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Network, 2012; Palacios et al., 2003Palacios J, Honrado E, Osorio A, Cazorla A, Sarrió D, Barroso A, Rodríguez S, Cigudosa JC, Diez O, Alonso C et al. (2003) Immunohistochemical characteristics defined by tissue microarray of hereditary breast cancer not attributable to BRCA1 or BRCA2 mutations: differences from breast carcinomas arising in BRCA1 and BRCA2 mutation carriers. Clin Cancer Res 9:3606-3614.
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CCND1 amplification |
0-22% |
13-60% |
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Vaziri et al., 2001Vaziri SA, Tubbs RR, Darlington G and Casey G (2001) Absence of CCND1 gene amplification in breast tumours of BRCA1 mutation carriers. Mol Pathol 54:259–263; Plevova et al., 2010Plevova P, Cerna D, Balcar A, Foretova L, Zapletalova J, Silhanova E, Curik R and Dvorackova J (2010) CCND1 and ZNF217 gene amplification is equally frequent in BRCA1 and BRCA2 associated and non-BRCA breast cancer. Neoplasma 57:325-32.; Brown et al., 2010Brown LA, Johnson K, Leung S, Bismar TA, Benítez J, Foulkes WD and Huntsman DG (2010) Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers. Breast Cancer Res Treat 121:347-54; |