Management and Clinical Outcomes of Breast Cancer in Women Diagnosed with Hereditary Cancer Syndromes in a Clinic-Based Sample from Colombia
This study aimed to investigate prognosis and survival differences in 82 breast cancer patients with germline pathogenic/likely pathogenic variants (PVs) treated and followed at the Breast Unit of the Instituto Nacional de Cancerología, Colombia (INC-C) between 2018 and 2021. Median age at diagnosis...
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creator | Sanabria-Salas, María Carolina Pedroza-Duran, Ana Díaz-Casas, Sandra E Nuñez Lemus, Marcela Grillo-Ardila, Carlos F Briceño-Morales, Ximena García-Mora, Mauricio Ángel-Aristizábal, Javier Mariño Lozano, Iván Fernando Suarez Rodríguez, Raúl Alexis Guzmán Abisaab, Luis Hernán |
description | This study aimed to investigate prognosis and survival differences in 82 breast cancer patients with germline pathogenic/likely pathogenic variants (PVs) treated and followed at the Breast Unit of the Instituto Nacional de Cancerología, Colombia (INC-C) between 2018 and 2021. Median age at diagnosis was 46 years, with 62.2% presenting locally advanced tumors, 47.6% histological grade 3, and 35.4% with triple-negative breast cancer (TNBC) subtype. Most carriers, 74.4% (61/82), had PVs in known breast cancer susceptibility genes (i.e., "associated gene carriers" group, considered inherited breast cancer cases):
(30),
(14),
(4),
(3),
(2),
(2),
(2),
(1),
(1),
(1), and
(1).
represented 53.7%, and homologous recombination DNA damage repair (HR-DDR) genes associated with breast cancer risk accounted for 15.9%. Patients with PVs in non-breast-cancer risk genes were combined in a different category (21/82; 25.6%) (i.e., "non-associated gene carriers" group, considered other breast cancer cases). Median follow-up was 38.1 months, and 24% experienced recurrence, with 90% being distant. The 5-year Disease-Free Survival (DFS) for inherited breast cancer cases was 66.5%, and for other breast cancer cases it was 88.2%. In particular, for carriers of PVs in the
gene, it was 37.6%. The 5-year Overall Survival (OS) rates ranged from 68.8% for those with PVs in
to 100% for those with PVs in other HR-DDR genes. Further studies are crucial for understanding tumor behavior and therapy response differences among Colombian breast cancer patients with germline PVs. |
doi_str_mv | 10.3390/cancers16112020 |
format | Article |
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(30),
(14),
(4),
(3),
(2),
(2),
(2),
(1),
(1),
(1), and
(1).
represented 53.7%, and homologous recombination DNA damage repair (HR-DDR) genes associated with breast cancer risk accounted for 15.9%. Patients with PVs in non-breast-cancer risk genes were combined in a different category (21/82; 25.6%) (i.e., "non-associated gene carriers" group, considered other breast cancer cases). Median follow-up was 38.1 months, and 24% experienced recurrence, with 90% being distant. The 5-year Disease-Free Survival (DFS) for inherited breast cancer cases was 66.5%, and for other breast cancer cases it was 88.2%. In particular, for carriers of PVs in the
gene, it was 37.6%. The 5-year Overall Survival (OS) rates ranged from 68.8% for those with PVs in
to 100% for those with PVs in other HR-DDR genes. Further studies are crucial for understanding tumor behavior and therapy response differences among Colombian breast cancer patients with germline PVs.</description><identifier>ISSN: 2072-6694</identifier><identifier>EISSN: 2072-6694</identifier><identifier>DOI: 10.3390/cancers16112020</identifier><identifier>PMID: 38893140</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>BRCA1 protein ; BRCA2 protein ; Breast cancer ; Cancer ; Care and treatment ; Colombia ; DNA damage ; DNA repair ; Family medical history ; Genes ; Genetic aspects ; Homologous recombination ; Mortality ; Oncology, Experimental ; Ovarian cancer ; p53 Protein ; Patient outcomes ; PTEN protein ; Survival</subject><ispartof>Cancers, 2024-06, Vol.16 (11), p.2020</ispartof><rights>COPYRIGHT 2024 MDPI AG</rights><rights>2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2024 by the authors. 2024</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c443t-8fa0c8e04277fe3554c7a42717b56e28b58a6af61079a11ef1325e05f5d3c1353</cites><orcidid>0000-0001-5355-729X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11171067/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11171067/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38893140$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sanabria-Salas, María Carolina</creatorcontrib><creatorcontrib>Pedroza-Duran, Ana</creatorcontrib><creatorcontrib>Díaz-Casas, Sandra E</creatorcontrib><creatorcontrib>Nuñez Lemus, Marcela</creatorcontrib><creatorcontrib>Grillo-Ardila, Carlos F</creatorcontrib><creatorcontrib>Briceño-Morales, Ximena</creatorcontrib><creatorcontrib>García-Mora, Mauricio</creatorcontrib><creatorcontrib>Ángel-Aristizábal, Javier</creatorcontrib><creatorcontrib>Mariño Lozano, Iván Fernando</creatorcontrib><creatorcontrib>Suarez Rodríguez, Raúl Alexis</creatorcontrib><creatorcontrib>Guzmán Abisaab, Luis Hernán</creatorcontrib><title>Management and Clinical Outcomes of Breast Cancer in Women Diagnosed with Hereditary Cancer Syndromes in a Clinic-Based Sample from Colombia</title><title>Cancers</title><addtitle>Cancers (Basel)</addtitle><description>This study aimed to investigate prognosis and survival differences in 82 breast cancer patients with germline pathogenic/likely pathogenic variants (PVs) treated and followed at the Breast Unit of the Instituto Nacional de Cancerología, Colombia (INC-C) between 2018 and 2021. Median age at diagnosis was 46 years, with 62.2% presenting locally advanced tumors, 47.6% histological grade 3, and 35.4% with triple-negative breast cancer (TNBC) subtype. Most carriers, 74.4% (61/82), had PVs in known breast cancer susceptibility genes (i.e., "associated gene carriers" group, considered inherited breast cancer cases):
(30),
(14),
(4),
(3),
(2),
(2),
(2),
(1),
(1),
(1), and
(1).
represented 53.7%, and homologous recombination DNA damage repair (HR-DDR) genes associated with breast cancer risk accounted for 15.9%. Patients with PVs in non-breast-cancer risk genes were combined in a different category (21/82; 25.6%) (i.e., "non-associated gene carriers" group, considered other breast cancer cases). Median follow-up was 38.1 months, and 24% experienced recurrence, with 90% being distant. The 5-year Disease-Free Survival (DFS) for inherited breast cancer cases was 66.5%, and for other breast cancer cases it was 88.2%. In particular, for carriers of PVs in the
gene, it was 37.6%. The 5-year Overall Survival (OS) rates ranged from 68.8% for those with PVs in
to 100% for those with PVs in other HR-DDR genes. Further studies are crucial for understanding tumor behavior and therapy response differences among Colombian breast cancer patients with germline PVs.</description><subject>BRCA1 protein</subject><subject>BRCA2 protein</subject><subject>Breast cancer</subject><subject>Cancer</subject><subject>Care and treatment</subject><subject>Colombia</subject><subject>DNA damage</subject><subject>DNA repair</subject><subject>Family medical history</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Homologous recombination</subject><subject>Mortality</subject><subject>Oncology, Experimental</subject><subject>Ovarian cancer</subject><subject>p53 Protein</subject><subject>Patient outcomes</subject><subject>PTEN 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Syndromes in a Clinic-Based Sample from Colombia</title><author>Sanabria-Salas, María Carolina ; Pedroza-Duran, Ana ; Díaz-Casas, Sandra E ; Nuñez Lemus, Marcela ; Grillo-Ardila, Carlos F ; Briceño-Morales, Ximena ; García-Mora, Mauricio ; Ángel-Aristizábal, Javier ; Mariño Lozano, Iván Fernando ; Suarez Rodríguez, Raúl Alexis ; Guzmán Abisaab, Luis Hernán</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c443t-8fa0c8e04277fe3554c7a42717b56e28b58a6af61079a11ef1325e05f5d3c1353</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>BRCA1 protein</topic><topic>BRCA2 protein</topic><topic>Breast cancer</topic><topic>Cancer</topic><topic>Care and treatment</topic><topic>Colombia</topic><topic>DNA damage</topic><topic>DNA repair</topic><topic>Family medical history</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Homologous recombination</topic><topic>Mortality</topic><topic>Oncology, Experimental</topic><topic>Ovarian cancer</topic><topic>p53 Protein</topic><topic>Patient outcomes</topic><topic>PTEN protein</topic><topic>Survival</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sanabria-Salas, María Carolina</creatorcontrib><creatorcontrib>Pedroza-Duran, Ana</creatorcontrib><creatorcontrib>Díaz-Casas, Sandra E</creatorcontrib><creatorcontrib>Nuñez Lemus, Marcela</creatorcontrib><creatorcontrib>Grillo-Ardila, Carlos F</creatorcontrib><creatorcontrib>Briceño-Morales, Ximena</creatorcontrib><creatorcontrib>García-Mora, Mauricio</creatorcontrib><creatorcontrib>Ángel-Aristizábal, Javier</creatorcontrib><creatorcontrib>Mariño Lozano, Iván Fernando</creatorcontrib><creatorcontrib>Suarez Rodríguez, Raúl Alexis</creatorcontrib><creatorcontrib>Guzmán Abisaab, Luis Hernán</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest 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titles)</collection><jtitle>Cancers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sanabria-Salas, María Carolina</au><au>Pedroza-Duran, Ana</au><au>Díaz-Casas, Sandra E</au><au>Nuñez Lemus, Marcela</au><au>Grillo-Ardila, Carlos F</au><au>Briceño-Morales, Ximena</au><au>García-Mora, Mauricio</au><au>Ángel-Aristizábal, Javier</au><au>Mariño Lozano, Iván Fernando</au><au>Suarez Rodríguez, Raúl Alexis</au><au>Guzmán Abisaab, Luis Hernán</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Management and Clinical Outcomes of Breast Cancer in Women Diagnosed with Hereditary Cancer Syndromes in a Clinic-Based Sample from Colombia</atitle><jtitle>Cancers</jtitle><addtitle>Cancers (Basel)</addtitle><date>2024-06-01</date><risdate>2024</risdate><volume>16</volume><issue>11</issue><spage>2020</spage><pages>2020-</pages><issn>2072-6694</issn><eissn>2072-6694</eissn><abstract>This study aimed to investigate prognosis and survival differences in 82 breast cancer patients with germline pathogenic/likely pathogenic variants (PVs) treated and followed at the Breast Unit of the Instituto Nacional de Cancerología, Colombia (INC-C) between 2018 and 2021. Median age at diagnosis was 46 years, with 62.2% presenting locally advanced tumors, 47.6% histological grade 3, and 35.4% with triple-negative breast cancer (TNBC) subtype. Most carriers, 74.4% (61/82), had PVs in known breast cancer susceptibility genes (i.e., "associated gene carriers" group, considered inherited breast cancer cases):
(30),
(14),
(4),
(3),
(2),
(2),
(2),
(1),
(1),
(1), and
(1).
represented 53.7%, and homologous recombination DNA damage repair (HR-DDR) genes associated with breast cancer risk accounted for 15.9%. Patients with PVs in non-breast-cancer risk genes were combined in a different category (21/82; 25.6%) (i.e., "non-associated gene carriers" group, considered other breast cancer cases). Median follow-up was 38.1 months, and 24% experienced recurrence, with 90% being distant. The 5-year Disease-Free Survival (DFS) for inherited breast cancer cases was 66.5%, and for other breast cancer cases it was 88.2%. In particular, for carriers of PVs in the
gene, it was 37.6%. The 5-year Overall Survival (OS) rates ranged from 68.8% for those with PVs in
to 100% for those with PVs in other HR-DDR genes. Further studies are crucial for understanding tumor behavior and therapy response differences among Colombian breast cancer patients with germline PVs.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>38893140</pmid><doi>10.3390/cancers16112020</doi><orcidid>https://orcid.org/0000-0001-5355-729X</orcidid><oa>free_for_read</oa></addata></record> |
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source | MDPI - Multidisciplinary Digital Publishing Institute; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; PubMed Central Open Access |
subjects | BRCA1 protein BRCA2 protein Breast cancer Cancer Care and treatment Colombia DNA damage DNA repair Family medical history Genes Genetic aspects Homologous recombination Mortality Oncology, Experimental Ovarian cancer p53 Protein Patient outcomes PTEN protein Survival |
title | Management and Clinical Outcomes of Breast Cancer in Women Diagnosed with Hereditary Cancer Syndromes in a Clinic-Based Sample from Colombia |
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