Dataset Information

Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

ABSTRACT: We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic.In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as non-carriers of BRCA1/2 mutation and assessed for large rearrangement mutations by multiplex ligation-dependent probe amplification. Family history and clinicopathological characteristics of patients were evaluated.Sixty-three mutation carriers (13.2%) were identified with BRCA1 mutations (6.3%) and BRCA2 mutations (6.9%), respectively. Mutation frequency was affected by familial and personal factors. Breast cancer patients with family history of breast and ovarian cancer showed the highest prevalence of BRCA1/2 mutations (67%), and triple-negative breast cancer (TNBC) patients showed high BRCA1 mutation prevalence (25%). The three probands of BRCA1 deletion (1%) represented both familial risk and personal or clinicopathological risk factors as two with TNBC and one with bilateral ovarian cancer.This is the largest study assessing large genomic rearrangement prevalence in Korea and BRCA1 deletion frequency was low as 1% in patients without BRCA1/2 small mutations. For clinical utility of large genomic rearrangement testing needs further study.

SUBMITTER: Park B

PROVIDER: S-EPMC5387004 | biostudies-other | 2017 May

REPOSITORIES: biostudies-other

ACCESS DATA

Publications

Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

Park Boyoung B Sohn Ji Yeon JY Yoon Kyong-Ah KA Lee Keun Seok KS Cho Eun Hae EH Lim Myong Cheol MC Yang Moon Jung MJ Park Soo Jin SJ Lee Moo Hyun MH Lee See Youn SY Chang Yoon Jung YJ Lee Dong Ock DO Kong Sun-Young SY Lee Eun Sook ES

Breast cancer research and treatment 20170215 1

<h4>Purpose</h4>We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic.<h4>Methods</h4>In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as non-carriers of BRCA1/2 mutation and assessed for large rearrangement mutations by multiplex ligation-dependent probe amplification. Family history and clinicopathological characteristics ...[more]

PMID: 28205045

Similar Datasets

Project description:ObjectiveTo estimate the risk of breast cancer associated with diagnostic radiation in carriers of BRCA1/2 mutations.DesignRetrospective cohort study (GENE-RAD-RISK).SettingThree nationwide studies (GENEPSO, EMBRACE, HEBON) in France, United Kingdom, and the Netherlands,Participants1993 female carriers of BRCA1/2 mutations recruited in 2006-09.Main outcome measureRisk of breast cancer estimated with a weighted Cox proportional hazards model with a time dependent individually estimated cumulative breast dose, based on nominal estimates of organ dose and frequency of self reported diagnostic procedures. To correct for potential survival bias, the analysis excluded carriers who were diagnosed more than five years before completion of the study questionnaire.ResultsIn carriers of BRCA1/2 mutations any exposure to diagnostic radiation before the age of 30 was associated with an increased risk of breast cancer (hazard ratio 1.90, 95% confidence interval 1.20 to 3.00), with a dose-response pattern. The risks by quarter of estimated cumulative dose <0.0020 Gy, ≥ 0.0020-0.0065 Gy, ≥ 0.0066-0.0173 Gy, and ≥ 0.0174 Gy were 1.63 (0.96 to 2.77), 1.78 (0.88 to 3.58), 1.75 (0.72 to 4.25), and 3.84 (1.67 to 8.79), respectively. Analyses on the different types of diagnostic procedures showed a pattern of increasing risk with increasing number of radiographs before age 20 and before age 30 compared with no exposure. A history of mammography before age 30 was also associated with an increased risk of breast cancer (hazard ratio 1.43, 0.85 to 2.40). Sensitivity analysis showed that this finding was not caused by confounding by indication of family history.ConclusionIn this large European study among carriers of BRCA1/2 mutations, exposure to diagnostic radiation before age 30 was associated with an increased risk of breast cancer at dose levels considerably lower than those at which increases have been found in other cohorts exposed to radiation. The results of this study support the use of non-ionising radiation imaging techniques (such as magnetic resonance imaging) as the main tool for surveillance in young women with BRCA1/2 mutations.

Dataset Information

Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

Publications

Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure