Prognostic and Predictive Biomarkers in Familial Breast Cancer
Large numbers of breast cancers arise within a familial context, either with known inherited germline mutations largely within DNA repair genes, or with a strong family history of breast and/or ovarian cancer, with unknown genetic underlying mechanisms. These cancers appear to be different to sporad...
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Format: | Article |
Language: | English |
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MDPI AG
2023-02-01
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Series: | Cancers |
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Online Access: | https://www.mdpi.com/2072-6694/15/4/1346 |
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author | Siddhartha Deb Anannya Chakrabarti Stephen B. Fox |
author_facet | Siddhartha Deb Anannya Chakrabarti Stephen B. Fox |
author_sort | Siddhartha Deb |
collection | DOAJ |
description | Large numbers of breast cancers arise within a familial context, either with known inherited germline mutations largely within DNA repair genes, or with a strong family history of breast and/or ovarian cancer, with unknown genetic underlying mechanisms. These cancers appear to be different to sporadic cases, with earlier age of onset, increased multifocality and with association with specific breast cancer histological and phenotypic subtypes. Furthermore, tumours showing homologous recombination deficiency, due to loss of <i>BRCA1</i>, <i>BRCA2</i>, <i>PALB2</i> and <i>CHEK2</i> function, have been shown to be especially sensitive to platinum-based chemotherapeutics and PARP inhibition. While there is extensive research and data accrued on risk stratification and genetic predisposition, there are few data pertaining to relevant prognostic and predictive biomarkers within this breast cancer subgroup. The following is a review of such biomarkers in male and female familial breast cancer, although the data for the former are particularly sparse. |
first_indexed | 2024-03-11T09:02:03Z |
format | Article |
id | doaj.art-7e405c5e74ab4f138ff94753be9ab43a |
institution | Directory Open Access Journal |
issn | 2072-6694 |
language | English |
last_indexed | 2024-03-11T09:02:03Z |
publishDate | 2023-02-01 |
publisher | MDPI AG |
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series | Cancers |
spelling | doaj.art-7e405c5e74ab4f138ff94753be9ab43a2023-11-16T19:39:43ZengMDPI AGCancers2072-66942023-02-01154134610.3390/cancers15041346Prognostic and Predictive Biomarkers in Familial Breast CancerSiddhartha Deb0Anannya Chakrabarti1Stephen B. Fox2Anatpath, Gardenvale, VIC 3185, AustraliaSpecialist Breast Cancer Surgery, Richmond, VIC 3121, AustraliaSir Peter MacCallum Department of Oncology, Peter MacCallum Cancer Centre, University of Mebourne, Melbourne, VIC 3101, AustraliaLarge numbers of breast cancers arise within a familial context, either with known inherited germline mutations largely within DNA repair genes, or with a strong family history of breast and/or ovarian cancer, with unknown genetic underlying mechanisms. These cancers appear to be different to sporadic cases, with earlier age of onset, increased multifocality and with association with specific breast cancer histological and phenotypic subtypes. Furthermore, tumours showing homologous recombination deficiency, due to loss of <i>BRCA1</i>, <i>BRCA2</i>, <i>PALB2</i> and <i>CHEK2</i> function, have been shown to be especially sensitive to platinum-based chemotherapeutics and PARP inhibition. While there is extensive research and data accrued on risk stratification and genetic predisposition, there are few data pertaining to relevant prognostic and predictive biomarkers within this breast cancer subgroup. The following is a review of such biomarkers in male and female familial breast cancer, although the data for the former are particularly sparse.https://www.mdpi.com/2072-6694/15/4/1346familial breast cancerbiomarker<i>BRCA1</i><i>BRCA2</i>prognostic and predictive |
spellingShingle | Siddhartha Deb Anannya Chakrabarti Stephen B. Fox Prognostic and Predictive Biomarkers in Familial Breast Cancer Cancers familial breast cancer biomarker <i>BRCA1</i> <i>BRCA2</i> prognostic and predictive |
title | Prognostic and Predictive Biomarkers in Familial Breast Cancer |
title_full | Prognostic and Predictive Biomarkers in Familial Breast Cancer |
title_fullStr | Prognostic and Predictive Biomarkers in Familial Breast Cancer |
title_full_unstemmed | Prognostic and Predictive Biomarkers in Familial Breast Cancer |
title_short | Prognostic and Predictive Biomarkers in Familial Breast Cancer |
title_sort | prognostic and predictive biomarkers in familial breast cancer |
topic | familial breast cancer biomarker <i>BRCA1</i> <i>BRCA2</i> prognostic and predictive |
url | https://www.mdpi.com/2072-6694/15/4/1346 |
work_keys_str_mv | AT siddharthadeb prognosticandpredictivebiomarkersinfamilialbreastcancer AT anannyachakrabarti prognosticandpredictivebiomarkersinfamilialbreastcancer AT stephenbfox prognosticandpredictivebiomarkersinfamilialbreastcancer |