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BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute

Histologic and genetic mutation information from racially and ethnically diverse populations is warranted to better inform future cancer predisposition and promote health equity. A single institutional, retrospective capture of patients with gynecologic conditions and genetic susceptibilities to mal...

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Autores principales: Wei, Christina H., Shehayeb, Susan, Santiago, Nicole Lugo, Kruper, Laura, Han, Ernest, Wang, Edward, Cristea, Mihaela, Rodriguez-Rodriguez, Lorna, Yost, Susan E., Stewart, Daphne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10263324/
https://www.ncbi.nlm.nih.gov/pubmed/37310942
http://dx.doi.org/10.1371/journal.pone.0286998
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author Wei, Christina H.
Shehayeb, Susan
Santiago, Nicole Lugo
Kruper, Laura
Han, Ernest
Wang, Edward
Cristea, Mihaela
Rodriguez-Rodriguez, Lorna
Yost, Susan E.
Stewart, Daphne
author_facet Wei, Christina H.
Shehayeb, Susan
Santiago, Nicole Lugo
Kruper, Laura
Han, Ernest
Wang, Edward
Cristea, Mihaela
Rodriguez-Rodriguez, Lorna
Yost, Susan E.
Stewart, Daphne
author_sort Wei, Christina H.
collection PubMed
description Histologic and genetic mutation information from racially and ethnically diverse populations is warranted to better inform future cancer predisposition and promote health equity. A single institutional, retrospective capture of patients with gynecologic conditions and genetic susceptibilities to malignant neoplasms of the breast or ovaries was performed. This was achieved with manual curation of the electronic medical record (EMR) from 2010–2020 with the use of ICD-10 code searches. Among 8983 consecutive women identified with gynecologic conditions, 184 were diagnosed with pathogenic/likely pathogenic (P/LP) germline BRCA (gBRCA) mutations. Median age was 54 (22–90). Mutations included insertion/deletion (majority frameshift, 57.4%), substitution (32.4%), large structural rearrangement (5.4%), and alteration in splice site/intronic sequence (4.7%). A total of 48% were non-Hispanic White, 32% Hispanic or Latino, 13% Asian, 2% Black, and 5% Other. The most common pathology was high grade serous carcinoma (HGSC, 63%), followed by unclassified/high grade carcinoma (13%). Additional multigene panels led to the detection of 23 additional BRCA-positive patients with germline co-mutations and/or variants of uncertain significance in genes functionally involved in DNA repair mechanisms. Hispanic or Latino and Asian individuals comprised 45% of patients with concomitant gynecologic condition and gBRCA positivity in our cohort, confirming that germline mutations are represented across racial and ethnic groups. Insertion/deletion mutations, the majority of which led to a frameshift change, occurred in approximately half of our patient cohort, which may have prognostic implication for therapy resistance. Prospective studies are needed to unravel the significance of germline co-mutations in gynecologic patients.
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spelling pubmed-102633242023-06-15 BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute Wei, Christina H. Shehayeb, Susan Santiago, Nicole Lugo Kruper, Laura Han, Ernest Wang, Edward Cristea, Mihaela Rodriguez-Rodriguez, Lorna Yost, Susan E. Stewart, Daphne PLoS One Research Article Histologic and genetic mutation information from racially and ethnically diverse populations is warranted to better inform future cancer predisposition and promote health equity. A single institutional, retrospective capture of patients with gynecologic conditions and genetic susceptibilities to malignant neoplasms of the breast or ovaries was performed. This was achieved with manual curation of the electronic medical record (EMR) from 2010–2020 with the use of ICD-10 code searches. Among 8983 consecutive women identified with gynecologic conditions, 184 were diagnosed with pathogenic/likely pathogenic (P/LP) germline BRCA (gBRCA) mutations. Median age was 54 (22–90). Mutations included insertion/deletion (majority frameshift, 57.4%), substitution (32.4%), large structural rearrangement (5.4%), and alteration in splice site/intronic sequence (4.7%). A total of 48% were non-Hispanic White, 32% Hispanic or Latino, 13% Asian, 2% Black, and 5% Other. The most common pathology was high grade serous carcinoma (HGSC, 63%), followed by unclassified/high grade carcinoma (13%). Additional multigene panels led to the detection of 23 additional BRCA-positive patients with germline co-mutations and/or variants of uncertain significance in genes functionally involved in DNA repair mechanisms. Hispanic or Latino and Asian individuals comprised 45% of patients with concomitant gynecologic condition and gBRCA positivity in our cohort, confirming that germline mutations are represented across racial and ethnic groups. Insertion/deletion mutations, the majority of which led to a frameshift change, occurred in approximately half of our patient cohort, which may have prognostic implication for therapy resistance. Prospective studies are needed to unravel the significance of germline co-mutations in gynecologic patients. Public Library of Science 2023-06-13 /pmc/articles/PMC10263324/ /pubmed/37310942 http://dx.doi.org/10.1371/journal.pone.0286998 Text en © 2023 Wei et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Wei, Christina H.
Shehayeb, Susan
Santiago, Nicole Lugo
Kruper, Laura
Han, Ernest
Wang, Edward
Cristea, Mihaela
Rodriguez-Rodriguez, Lorna
Yost, Susan E.
Stewart, Daphne
BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute
title BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute
title_full BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute
title_fullStr BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute
title_full_unstemmed BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute
title_short BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute
title_sort brca germline mutations in multiethnic gynecologic patients: a 10-year retrospective analysis from a single cancer institute
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10263324/
https://www.ncbi.nlm.nih.gov/pubmed/37310942
http://dx.doi.org/10.1371/journal.pone.0286998
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