BRCA 1/BRCA 2 PATHOGENIC/LIKELY PATHOGENIC VARIANT PATIENTS WITH BREAST, OVARIAN, AND OTHER CANCERS

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dc.authoridHacioglu, Bekir/0000-0001-8490-3239
dc.contributor.authorOsman, K.
dc.contributor.authorAhmet, K.
dc.contributor.authorHilmi, T.
dc.contributor.authorIlker, N. O.
dc.contributor.authorErcan, Oe.
dc.contributor.authorDevrim, C.
dc.contributor.authorMurat, S.
dc.date.accessioned2024-10-29T17:59:03Z
dc.date.available2024-10-29T17:59:03Z
dc.date.issued2022
dc.departmentTekirdağ Namık Kemal Üniversitesi
dc.description.abstractThe demographic and clinical characteristics of patients who have BRCA 1/BRCA 2 pathogenic/likely pathogenic variants may differ from their relatives who had BRCA-related cancer. In this study, we aimed to demonstrate the clinical and demographic findings of patients who had BRCA-related cancer and to assess the differences comparing their relatives who had BRCA-related cancer with breast, genital tract, prostate, and pancreas cancers as well. The results of sequencing analysis of 200 cancer patients (190 women, 10 men) who have been directed to genetic counseling with an indication of BRCA1/BRCA2 testing from different regions across 9 medical oncology centers were retrospectively analyzed. A total of 200 consecutive cancer patients who harbored the BRCA1/BRCA2 pathogenic/likely pathogenic variant (130 (65%) patients harbored BRCA 1 pathogenic/likely pathogenic variant, and 70 harbored BRCA 2 pathogenic/likely pathogenic variant) were included. Of these, 64.0% had breast cancer (43.8% of them had the triple-negative disease, and about 2.3% had only the HER-2 mutant), 31.5% had genital cancers (92.1% of them had ovarian cancer, 3.2% had endometrium, and 1.6% had peritoneum cancer as the primary site and mostly serous adenocarcinoma was the most common histopathology and 14.3% of the patients had endometrioid adenocarcinoma), 3.5% had prostate (median time from metastasis to castration-resistant status was 28 months) and 1.0% had pancreas cancer. Newly diagnosed cancer (breast and ovary) patients who had BRCA 1/BRCA 2 pathogenic/ likely pathogenic variant were younger than their previous cancer diagnosed (breast, ovary, and pancreas) parents who harbored BRCA pathogenic/likely pathogenic variant. We suggest that the genetic screening of BRCA 1/ BRCA 2 pathogenic/likely pathogenic variant is needed as a routine screening for those with a personal or family history of breast, ovarian, tubal, or peritoneal cancer. In addition, once BRCA 1 or BRCA 2 germline pathogenic variant has been identified in a family, testing of at-risk next-generation relatives earlier can identify those family members who also have the familial pathogenic variant, and thus need increased surveillance.
dc.identifier.doi10.2478/bjmg-2022-0023
dc.identifier.endpage14
dc.identifier.issn1311-0160
dc.identifier.issn2199-5761
dc.identifier.issue2en_US
dc.identifier.pmid37265975
dc.identifier.startpage5
dc.identifier.urihttps://doi.org/10.2478/bjmg-2022-0023
dc.identifier.urihttps://hdl.handle.net/20.500.11776/14605
dc.identifier.volume25
dc.identifier.wosWOS:001002015900001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSciendo
dc.relation.ispartofBalkan Journal of Medical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBRCA 1
dc.subjectBRCA 2
dc.subjectbreast
dc.subjectpancreas
dc.subjectgenital cancers
dc.subjectprostate
dc.subjectpancreas
dc.titleBRCA 1/BRCA 2 PATHOGENIC/LIKELY PATHOGENIC VARIANT PATIENTS WITH BREAST, OVARIAN, AND OTHER CANCERS
dc.typeArticle

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