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Article: Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients

TitleDouble Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients
Authors
KeywordsBRCA
Chinese
double heterozygosity
hereditary breast cancers
Issue Date15-Jul-2024
PublisherMultidisciplinary Digital Publishing Institute (MDPI)
Citation
Cancers, 2024, v. 16, n. 14 How to Cite?
Abstract

Double pathogenic mutations occurring in an individual are considered a rare event. The introduction of a multiple-gene panel at Hong Kong Hereditary Breast Cancer Family Registry has allowed the identification of pathogenic variants in multiple genes, providing more information on clinical management and surveillance to the proband and their family members. Breast cancer patients who are double heterozygous (DH) for different hereditary breast and ovarian cancer syndrome (HBCO)-related genes were identified from a cohort of 3649 Chinese patients. Nine patients (0.25%) were observed to have germline DH mutations in ATMBRCA1BRCA2BRIP1CDH1CHEK2MSH6PALB2, and TP53. Three probands were diagnosed with unilateral breast cancer, two patients were diagnosed with bilateral breast cancer, and four patients had multiple primary cancers. The median age for breast cancer diagnosis was an early age of 36 years. Chinese DH carriers did not show worse phenotypes or have a significantly downhill clinical presentation. However, seven out of nine (77.8%) of our DH carriers harbored a BRCA1 mutation, and four of them (44.4%) developed bilateral breast cancer, suggesting Chinese DH individuals may have a higher chance of having bilateral breast cancer than other populations (p = 0.0237).


Persistent Identifierhttp://hdl.handle.net/10722/353309
ISSN
2023 Impact Factor: 4.5
2023 SCImago Journal Rankings: 1.391

 

DC FieldValueLanguage
dc.contributor.authorKwong, Ava-
dc.contributor.authorHo, Cecilia Y. S.-
dc.contributor.authorAu, Chun-Hang-
dc.contributor.authorMa, Edmond S. K.-
dc.date.accessioned2025-01-17T00:35:30Z-
dc.date.available2025-01-17T00:35:30Z-
dc.date.issued2024-07-15-
dc.identifier.citationCancers, 2024, v. 16, n. 14-
dc.identifier.issn2072-6694-
dc.identifier.urihttp://hdl.handle.net/10722/353309-
dc.description.abstract<p>Double pathogenic mutations occurring in an individual are considered a rare event. The introduction of a multiple-gene panel at Hong Kong Hereditary Breast Cancer Family Registry has allowed the identification of pathogenic variants in multiple genes, providing more information on clinical management and surveillance to the proband and their family members. Breast cancer patients who are double heterozygous (DH) for different hereditary breast and ovarian cancer syndrome (HBCO)-related genes were identified from a cohort of 3649 Chinese patients. Nine patients (0.25%) were observed to have germline DH mutations in <em>ATM</em>, <em>BRCA1</em>, <em>BRCA2</em>, <em>BRIP1</em>, <em>CDH1</em>, <em>CHEK2</em>, <em>MSH6</em>, <em>PALB2</em>, and <em>TP53</em>. Three probands were diagnosed with unilateral breast cancer, two patients were diagnosed with bilateral breast cancer, and four patients had multiple primary cancers. The median age for breast cancer diagnosis was an early age of 36 years. Chinese DH carriers did not show worse phenotypes or have a significantly downhill clinical presentation. However, seven out of nine (77.8%) of our DH carriers harbored a <em>BRCA1</em> mutation, and four of them (44.4%) developed bilateral breast cancer, suggesting Chinese DH individuals may have a higher chance of having bilateral breast cancer than other populations (<em>p</em> = 0.0237).</p>-
dc.languageeng-
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)-
dc.relation.ispartofCancers-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectBRCA-
dc.subjectChinese-
dc.subjectdouble heterozygosity-
dc.subjecthereditary breast cancers-
dc.titleDouble Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients-
dc.typeArticle-
dc.identifier.doi10.3390/cancers16142547-
dc.identifier.scopuseid_2-s2.0-85199587736-
dc.identifier.volume16-
dc.identifier.issue14-
dc.identifier.issnl2072-6694-

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