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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Main Authors: Siddhartha Deb, Anannya Chakrabarti, Stephen B. Fox
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Cancers
Subjects:
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.
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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
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