Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological data.

2.50
Hdl Handle:
http://hdl.handle.net/10146/59313
Title:
Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological data.
Authors:
van der Groep, P.; Bouter, A.; van der Zanden, R.; Siccama, I.; Menko, F. H.; Gille, J. J. P.; van Kalken, C.; van der Wall, E.; Verheijen, R. H. M.; van Diest, P. J.
Abstract:
BACKGROUND: About 5% of all breast cancer cases are attributable to germline mutations in BRCA1 or BRCA2 genes. BRCA mutations in suspected carriers, however, may be missed, which hampers genetic counselling. MATERIALS AND METHODS: Different clinicopathological features were compared between 22 breast cancers from carriers of proved BRCA1 mutations and 604 cancers from sporadic controls. In addition, 5 BRCA2-related breast cancers and 66 breast cancers of untested patients at intermediate risk and 19 breast cancers of untested patients at high risk of hereditary disease on the basis of family history were evaluated. RESULTS: A "probably sporadic" class (age >or=54 years and epidermal growth factor receptor (EGFR) negative; 68% of cases) with a 0% chance of BRCA1-related breast cancer containing 79% of the sporadic cases was yielded by using a decision tree with age, Ki67 and EGFR. A 75% chance of BRCA1-related breast cancer was shown by the "probably BRCA1-related" class (age <54 years and Ki67 >or=25%; 8% of cases) with 82% of the BRCA1-related cases but only 1.4% of the sporadic cases. Most cases at intermediate or high risk of hereditary disease on the basis of family history could be classified with high probability as either probably BRCA1 related or probably sporadic. CONCLUSION: Breast carcinomas can be classified with a high level of certainty as sporadic or related to BRCA1 germline mutations by using a decision tree with age, Ki67 and EGFR. This can be clinically useful in mutation analysis in families with a borderline risk of hereditary disease.
Citation:
J. Clin. Pathol. 2006, 59 (6):611-617
Journal:
Journal of clinical pathology
Issue Date:
Jun-2006
URI:
http://hdl.handle.net/10146/59313
DOI:
10.1136/jcp.2005.032151
PubMed ID:
16603649
Additional Links:
http://jcp.bmj.com/cgi/content/abstract/59/6/611
Type:
Article
Language:
en
Description:
KEYWORDS CLASSIFICATION: analysis;Adult;Age Factors;Aged;Aged,80 and over;biomarkers of exposure & effect: field studies;Breast;Breast Neoplasms;diagnosis;Decision Trees;Diagnosis,Differential;Epidermal Growth Factor;Female;genetics;Genes,Brca1;Genes,Brca2;Genetic Predisposition to Disease;Germ-Line Mutation;history;Heterozygote;Humans;Immunoenzyme Techniques;Ki-67 Antigen;metabolism;Middle Aged;Neoplasm Proteins;Neoplastic Syndromes,Hereditary;Netherlands;pathology;Proteins;Receptor,Epidermal Growth Factor;Tumor Markers,Biological;field studies.
ISSN:
0021-9746
Appears in Collections:
Articles with annotation

Full metadata record

DC FieldValue Language
dc.contributor.authorvan der Groep, P.-
dc.contributor.authorBouter, A.-
dc.contributor.authorvan der Zanden, R.-
dc.contributor.authorSiccama, I.-
dc.contributor.authorMenko, F. H.-
dc.contributor.authorGille, J. J. P.-
dc.contributor.authorvan Kalken, C.-
dc.contributor.authorvan der Wall, E.-
dc.contributor.authorVerheijen, R. H. M.-
dc.contributor.authorvan Diest, P. J.-
dc.date.accessioned2009-04-03T07:41:18Z-
dc.date.available2009-04-03T07:41:18Z-
dc.date.issued2006-06-
dc.identifier.citationJ. Clin. Pathol. 2006, 59 (6):611-617en
dc.identifier.issn0021-9746-
dc.identifier.pmid16603649-
dc.identifier.doi10.1136/jcp.2005.032151-
dc.identifier.urihttp://hdl.handle.net/10146/59313-
dc.descriptionKEYWORDS CLASSIFICATION: analysis;Adult;Age Factors;Aged;Aged,80 and over;biomarkers of exposure & effect: field studies;Breast;Breast Neoplasms;diagnosis;Decision Trees;Diagnosis,Differential;Epidermal Growth Factor;Female;genetics;Genes,Brca1;Genes,Brca2;Genetic Predisposition to Disease;Germ-Line Mutation;history;Heterozygote;Humans;Immunoenzyme Techniques;Ki-67 Antigen;metabolism;Middle Aged;Neoplasm Proteins;Neoplastic Syndromes,Hereditary;Netherlands;pathology;Proteins;Receptor,Epidermal Growth Factor;Tumor Markers,Biological;field studies.en
dc.description.abstractBACKGROUND: About 5% of all breast cancer cases are attributable to germline mutations in BRCA1 or BRCA2 genes. BRCA mutations in suspected carriers, however, may be missed, which hampers genetic counselling. MATERIALS AND METHODS: Different clinicopathological features were compared between 22 breast cancers from carriers of proved BRCA1 mutations and 604 cancers from sporadic controls. In addition, 5 BRCA2-related breast cancers and 66 breast cancers of untested patients at intermediate risk and 19 breast cancers of untested patients at high risk of hereditary disease on the basis of family history were evaluated. RESULTS: A "probably sporadic" class (age >or=54 years and epidermal growth factor receptor (EGFR) negative; 68% of cases) with a 0% chance of BRCA1-related breast cancer containing 79% of the sporadic cases was yielded by using a decision tree with age, Ki67 and EGFR. A 75% chance of BRCA1-related breast cancer was shown by the "probably BRCA1-related" class (age <54 years and Ki67 >or=25%; 8% of cases) with 82% of the BRCA1-related cases but only 1.4% of the sporadic cases. Most cases at intermediate or high risk of hereditary disease on the basis of family history could be classified with high probability as either probably BRCA1 related or probably sporadic. CONCLUSION: Breast carcinomas can be classified with a high level of certainty as sporadic or related to BRCA1 germline mutations by using a decision tree with age, Ki67 and EGFR. This can be clinically useful in mutation analysis in families with a borderline risk of hereditary disease.en
dc.language.isoenen
dc.relation.urlhttp://jcp.bmj.com/cgi/content/abstract/59/6/611en
dc.subject.meshAdult-
dc.subject.meshAge Factors-
dc.subject.meshAged-
dc.subject.meshAged, 80 and over-
dc.subject.meshBreast Neoplasms-
dc.subject.meshDecision Trees-
dc.subject.meshDiagnosis, Differential-
dc.subject.meshFemale-
dc.subject.meshGenes, BRCA1-
dc.subject.meshGenes, BRCA2-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshGerm-Line Mutation-
dc.subject.meshHeterozygote-
dc.subject.meshHumans-
dc.subject.meshImmunoenzyme Techniques-
dc.subject.meshKi-67 Antigen-
dc.subject.meshMiddle Aged-
dc.subject.meshNeoplasm Proteins-
dc.subject.meshNeoplastic Syndromes, Hereditary-
dc.subject.meshReceptor, Epidermal Growth Factor-
dc.subject.meshTumor Markers, Biological-
dc.titleDistinction between hereditary and sporadic breast cancer on the basis of clinicopathological data.en
dc.typeArticleen
dc.identifier.journalJournal of clinical pathologyen

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