Incorporating immunohistochemical markers into screening methods for BRCA1-mutated breast cancer

BRCA1-mutated breast cancer (BC) is responsible for approximately 25% of hereditary breast cancer cases. BRCA1 is a tumor suppressor protein regulating the cell cycle and DNA repair; therefore its dysfunctions play a significant role in carcinogenesis. BRCA1-mutated BC is associated with basal-like...

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Main Authors: Agnieszka Tuzimek, Marta Fudalej, Aleksandra Sobiborowicz, Michał Budzik, Anna Badowska-Kozakiewicz
Format: Article
Language:English
Published: Termedia Publishing House 2020-10-01
Series:Polish Journal of Pathology
Subjects:
Online Access:https://www.termedia.pl/Incorporating-immunohistochemical-markers-into-screening-methods-for-BRCA1-mutated-breast-cancer,55,42027,1,1.html
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spelling doaj-5243e0d0b27f4ac6981e0b3218bb21052021-10-06T06:56:39ZengTermedia Publishing HousePolish Journal of Pathology1233-96872084-98692020-10-0171326126910.5114/pjp.2020.9979342027Incorporating immunohistochemical markers into screening methods for BRCA1-mutated breast cancerAgnieszka TuzimekMarta FudalejAleksandra SobiborowiczMichał BudzikAnna Badowska-KozakiewiczBRCA1-mutated breast cancer (BC) is responsible for approximately 25% of hereditary breast cancer cases. BRCA1 is a tumor suppressor protein regulating the cell cycle and DNA repair; therefore its dysfunctions play a significant role in carcinogenesis. BRCA1-mutated BC is associated with basal-like phenotype, lack of expression of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) in addition to frequent TP53 mutations and poor prognosis. Currently used criteria for genetic evaluation of BC for the risk of hereditary mutations are based on patients’ age and family history, and therefore are prone to be imprecise or incomplete. This review discusses recently developed sets of immunohistochemical markers, promising independent markers (nestin, ALDH1, FOXO3, claudins, topoisomerase 1, EGFR) and their potential to be incorporated into clinical practice as a support tool in oncological counseling. This approach could be applied as a screening method for cost-effective selection of cases requiring genetic testing or adapted in pathology laboratories with limited access to molecular techniques. Although not all of the described predictor models have been validated yet, they could further improve the performance of BRCA1 screening methods in BC in the near future via increasing the accuracy of criteria for further genetic evaluation.https://www.termedia.pl/Incorporating-immunohistochemical-markers-into-screening-methods-for-BRCA1-mutated-breast-cancer,55,42027,1,1.htmlbrca1 breast cancer immunohistochemistry genetic evaluation.
collection DOAJ
language English
format Article
sources DOAJ
author Agnieszka Tuzimek
Marta Fudalej
Aleksandra Sobiborowicz
Michał Budzik
Anna Badowska-Kozakiewicz
spellingShingle Agnieszka Tuzimek
Marta Fudalej
Aleksandra Sobiborowicz
Michał Budzik
Anna Badowska-Kozakiewicz
Incorporating immunohistochemical markers into screening methods for BRCA1-mutated breast cancer
Polish Journal of Pathology
brca1
breast cancer
immunohistochemistry
genetic evaluation.
author_facet Agnieszka Tuzimek
Marta Fudalej
Aleksandra Sobiborowicz
Michał Budzik
Anna Badowska-Kozakiewicz
author_sort Agnieszka Tuzimek
title Incorporating immunohistochemical markers into screening methods for BRCA1-mutated breast cancer
title_short Incorporating immunohistochemical markers into screening methods for BRCA1-mutated breast cancer
title_full Incorporating immunohistochemical markers into screening methods for BRCA1-mutated breast cancer
title_fullStr Incorporating immunohistochemical markers into screening methods for BRCA1-mutated breast cancer
title_full_unstemmed Incorporating immunohistochemical markers into screening methods for BRCA1-mutated breast cancer
title_sort incorporating immunohistochemical markers into screening methods for brca1-mutated breast cancer
publisher Termedia Publishing House
series Polish Journal of Pathology
issn 1233-9687
2084-9869
publishDate 2020-10-01
description BRCA1-mutated breast cancer (BC) is responsible for approximately 25% of hereditary breast cancer cases. BRCA1 is a tumor suppressor protein regulating the cell cycle and DNA repair; therefore its dysfunctions play a significant role in carcinogenesis. BRCA1-mutated BC is associated with basal-like phenotype, lack of expression of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) in addition to frequent TP53 mutations and poor prognosis. Currently used criteria for genetic evaluation of BC for the risk of hereditary mutations are based on patients’ age and family history, and therefore are prone to be imprecise or incomplete. This review discusses recently developed sets of immunohistochemical markers, promising independent markers (nestin, ALDH1, FOXO3, claudins, topoisomerase 1, EGFR) and their potential to be incorporated into clinical practice as a support tool in oncological counseling. This approach could be applied as a screening method for cost-effective selection of cases requiring genetic testing or adapted in pathology laboratories with limited access to molecular techniques. Although not all of the described predictor models have been validated yet, they could further improve the performance of BRCA1 screening methods in BC in the near future via increasing the accuracy of criteria for further genetic evaluation.
topic brca1
breast cancer
immunohistochemistry
genetic evaluation.
url https://www.termedia.pl/Incorporating-immunohistochemical-markers-into-screening-methods-for-BRCA1-mutated-breast-cancer,55,42027,1,1.html
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