The Korean Hereditary Breast Cancer Study: Review and Future Perspectives

Kang, Eunyoung; Kim, Sung Won

doi:10.4048/jbc.2013.16.3.245

Cited by 34 publications

(22 citation statements)

References 40 publications

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“…In addition, given that MPCs in the gynecologic system were the second-most common malignancy and development of breast and ovarian cancer shares a close genetic linkage in deleterious BRCA 1 & 2 mutation carriers, results of the Korean Hereditary Breast Cancer (KOH-BRA) Study for the Korean population may shed further light on this topic. 23 …”

Section: Discussionmentioning

confidence: 99%

Characteristics and Survival of Breast Cancer Patients with Multiple Synchronous or Metachronous Primary Cancers

et al. 2015

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PurposeNewly developed extra-mammary multiple primary cancers (MPCs) are an issue of concern when considering the management of breast cancer survivors. This study aimed to investigate the prevalence of MPCs and to evaluate the implications of MPCs on the survival of breast cancer patients.Materials and MethodsA total of 8204 patients who underwent surgery at Severance Hospital between 1990 and 2012 were retrospectively selected. Clinicopathologic features and survival over follow-up periods of ≤5 and >5 years were investigated using univariate and multivariate analyses.ResultsDuring a mean follow-up of 67.3 months, 962 MPCs in 858 patients (10.5%) were detected. Synchronous and metachronous MPCs were identified in 23.8% and 79.0% of patients, respectively. Thyroid cancer was the most prevalent, and the second most common was gynecologic cancer. At ≤5 years, patients with MPCs were older and demonstrated significantly worse survival despite a higher proportion of patients with lower-stage MPCs. Nevertheless, an increased risk of death in patients with MPCs did not reach statistical significance at >5 years. The causes of death in many of the patients with MPCs were not related to breast cancer. Stage-matched analysis revealed that the implications of MPCs on survival were more evident in the early stages of breast disease.ConclusionBreast cancer patients with MPCs showed worse survival, especially when early-stage disease was identified. Therefore, it is necessary to follow screening programs in breast cancer survivors and to establish guidelines for improving prognosis and quality of life.

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Section: Discussionmentioning

confidence: 99%

Characteristics and Survival of Breast Cancer Patients with Multiple Synchronous or Metachronous Primary Cancers

et al. 2015

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“…There was only one carrier who was of Asian ethnicity reported in the BIC database (http:// research.nhgri.nih.gov/bic/). Since the KOHBRA study was started in 2007, the number of patients undergoing BRCA1/2 genetic testing has increased rapidly due to coverage of BRCA1/2 genetic testing by the National Health Insurance system of the South Korean government after May 2012 and the onset of the "Angelina Jolie effect" in May 2013 [11,18,19]. However, reclassification of VUSs in the Korean population is still not adequately performed due to limited data compared with Western public databases such as BIC or ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/).…”

Section: Discussionmentioning

confidence: 99%

Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant

et al. 2020

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PurposeRecent studies revealed the BRCA1 c.5339T>C, p.Leu1780Pro variant (L1780P) is highly suggested as a likely pathogenic. The aim of this study was to evaluate clinicopathologic features of L1780P with breast cancer (BC) using multicenter data from Korea to reinforce the evidence as a pathogenic mutation and to compare L1780P and other BRCA1/2mutations using Korean Hereditary Breast Cancer (KOHBRA) study data.Materials and MethodsThe data of 54 BC patients with L1780P variant from 10 institutions were collected and the clinicopathologic characteristics of the patients were reviewed. The hereditary breast and/or ovarian cancer–related characteristics of the L1780P variant were compared to those of BC patients in the KOHBRA study.ResultsThe median age of all patients was 38 years, and 75.9% of cases showed triple-negative breast cancer. Comparison of cases with L1780P to carriers from the KOHBRA study revealed that the L1780P patients group was more likely to have family history (FHx) of ovarian cancer (OC) (24.1% vs. 19.6% vs. 11.2%, p < 0.001 and p=0.001) and a personal history of OC (16.7% vs. 2.9% vs. 1.3%, p=0.003 and p=0.001) without significant difference in FHx of BC and bilateral BC. The cumulative risk of contralateral BC at 10 years after diagnosis was 31.9%, while the cumulative risk of OC at 50 years of age was 20.0%. Patients with L1780P showed similar features with BRCA1 carriers and showed higher penetrance of OC than patients with other BRCA1 mutations.ConclusionL1780P should be considered as a pathogenic mutation. Risk-reducing salpingo-oophorectomy is highly recommended for women with L1780P.

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“…There are different approaches: from the most basic clinical data, i.e. patient's age and family history [83,84,85], adding less or more common immunohistochemical markers [78,86,87,88,89] to molecular models based on whole-genome sequencing [90], gene expression profiling [91], copy number analysis [92,93] or array comparative genomic hybridization [94].…”

Section: Sets Of Markers Useful In Selecting Probable Brca-1 Mutationmentioning

confidence: 99%

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

Tuzimek¹,

Fudalej²,

Sobiborowicz³

et al. 2020

pjp

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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.

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The Korean Hereditary Breast Cancer Study: Review and Future Perspectives

Cited by 34 publications

References 40 publications

Characteristics and Survival of Breast Cancer Patients with Multiple Synchronous or Metachronous Primary Cancers

Characteristics and Survival of Breast Cancer Patients with Multiple Synchronous or Metachronous Primary Cancers

Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant

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

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