Prediction of <i>BRCA1</i> Status in Patients with Breast Cancer Using Estrogen Receptor and Basal Phenotype

Lakhani, Sunil R.; Reis‐Filho, Jorge S.; Fulford, Laura; Penault‐Llorca, Frédérique; Vijver, Marc van der; Parry, Suzanne; Bishop, D. Timothy; Benı́tez, Javier; Rivas, Carmen; Bignon, Yves‐Jean; Chang‐Claude, Jenny; Hamann, Ute; Cornelisse, Cees J.; Devilee, Peter; Beckmann, Matthias W.; Nestle-Krämling, Carolin; Daly, Peter A.; Haites, Neva Elizabeth; Varley, Jenny; Lalloo, Fiona; Evans, D. Gareth; Maugard, Christine M.; Meijers-Heijboer, Hanne; Klijn, Jan G.M.; Olàh, Edith; Gusterson, Barry A.; Pilotti, Silvana; Radice, Paolo; Scherneck, Siegfried; Sobol, Hagay; Jacquemier, Jocelyne; Wagner, Teresa; Peto, Julian; Stratton, Michael R.; McGuffog, Lesley; Easton, Douglas F.

doi:10.1158/1078-0432.ccr-04-2424

Cited by 579 publications

(525 citation statements)

References 28 publications

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“…As the majority of BRCA1 mutation-associated breast tumours are ER-negative (Lakhani et al, 2005), the absence of an association in our study of breast cancer with the TP53 and MDM2 SNPs in BRCA1 mutation carriers is consistent with the lack of an association with ER-negative cancers in the general population. …”

Section: Discussionsupporting

confidence: 83%

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

et al. 2009

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BACKGROUND: The TP53 pathway, in which TP53 and its negative regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in BRCA1-and BRCA2-mediated carcinogenesis. A single nucleotide polymorphism (SNP) in the promoter region of MDM2 (309T4G, rs2279744) and a coding SNP of TP53 (Arg72Pro, rs1042522) have been shown to be of functional significance. METHODS: To investigate whether these SNPs modify breast cancer risk for BRCA1 and BRCA2 mutation carriers, we pooled genotype data on the TP53 Arg72Pro SNP in 7011 mutation carriers and on the MDM2 309T4G SNP in 2222 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Data were analysed using a Cox proportional hazards model within a retrospective likelihood framework. RESULTS: No association was found between these SNPs and breast cancer risk for BRCA1 (TP53: per-allele hazard ratio (HR) ¼ 1.01, 95% confidence interval (CI): 0.93 -1.10, P trend ¼ 0.77; MDM2: HR ¼ 0.96, 95%CI: 0.84 -1.09, P trend ¼ 0.54) or for BRCA2 mutation carriers (TP53: HR ¼ 0.99, 95%CI: 0.87 -1.12, P trend ¼ 0.83; MDM2: HR ¼ 0.98, 95%CI: 0.80 -1.21, P trend ¼ 0.88). We also evaluated the potential combined effects of both SNPs on breast cancer risk, however, none of their combined genotypes showed any evidence of association. CONCLUSION: There was no evidence that TP53 Arg72Pro or MDM2 309T4G, either singly or in combination, influence breast cancer risk in BRCA1 or BRCA2 mutation carriers.

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Section: Discussionsupporting

confidence: 83%

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

et al. 2009

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“…We show that identification of basal markers (HMWCKs, c-Kit and EGFR) positivity within this group of TNBC could identify a subgroup of tumors, BLBC. It has been shown that BLBC consistently overexpress HER1 or EGFR (Nielsen et al, 2004;Lakhani et al, 2005;Masuda et al, 2005), EGFR inhibitors may have a role in the treatment of this tumor subtype. The basal markers are not consistently used in the standard histological diagnosis of breast cancer.…”

Section: Discussionmentioning

confidence: 99%

Clinicopathological Characteristics of Triple Negative Breast Cancer at a Tertiary Care Hospital in India

Dogra¹,

Doval²,

Sardana³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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“…This was performed simply to increase the yield of high-grade, ER-negative breast carcinomas, as these are more common in the younger age group. The majority of BRCA-1-associated tumors have the basal phenotype, 8,18,19 but the BRCA-1 status was not available for any of our cases.…”

Section: Discussionmentioning

confidence: 99%

Basal phenotype of ductal carcinoma in situ: recognition and immunohistologic profile

et al. 2006

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The basal phenotype of breast carcinoma was demonstrated from a study of gene expression profiles, which demonstrated five carcinoma phenotypes with differing immunohistologic profiles and outcomes. The basal phenotype, so-named because of an immunohistologic profile that is similar to myoepithelial cells of the breast, has poor outcomes. While the invasive basal phenotype has been described, there is a paucity of literature regarding the existence or recognition of a precursor lesion. We searched our CoPath database for breast carcinomas in the age group of 37 years or less, and this yielded 98 cases from the years 2001 to April 2006. Pathology reports were screened for those cases that were negative for estrogen and progesterone receptors and HER-2/neu (triple negative). A total of 16 cases (16/98, 16%) fulfilled these criteria. Histology was reviewed and immunostains were performed for Cytokeratins 14, 17, and 5/6, vimentin, EGFR, c-kit, smooth muscle actin and p63. All 16 cases had a high-grade invasive ductal carcinoma, Nottingham score 9/9, with geographic necrosis, good circumscription and lymphoid infiltrates. Of the 16 cases, 13 exhibited at least one area of ductal carcinoma in situ (DCIS). The DCIS types were solid, flat or micropapillary, high nuclear grade, with comedonecrosis and invariably associated with intense lymphoid inflammatory cell infiltration. Of 16 invasive cases, 14 (88%) were positive for CK14, CK17, CK5/6 and EGFR; 94% were vimentin positive, while half or less of cases were positive for smooth muscle actin, c-kit or p63. All of the DCIS components demonstrated the same immunohistologic profile as the invasive component. A DCIS component of solid, flat or micropapillary type exists in the basal phenotype of breast carcinoma, and it demonstrates the same immunophenotype as the invasive carcinoma, typically positive for CK5/6, CK14, CK17, vimentin and EGFR, but negative for ER/PR and HER-2/neu.

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Prediction of BRCA1 Status in Patients with Breast Cancer Using Estrogen Receptor and Basal Phenotype

Cited by 579 publications

References 28 publications

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Clinicopathological Characteristics of Triple Negative Breast Cancer at a Tertiary Care Hospital in India

Basal phenotype of ductal carcinoma in situ: recognition and immunohistologic profile

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