scholarly journals Sister chromatid exchange: A possible approach to characterize familial breast cancer patients

2014 ◽  
Vol 33 (2) ◽  
pp. 930-934 ◽  
Author(s):  
IVANA DE PASCALIS ◽  
BRUNELLA PILATO ◽  
ANNALISA MAZZOTTA ◽  
TERESA STEFANIA DELL’ENDICE ◽  
VINCENZA RUBINI ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Sister Chromatid ◽  
Sister Chromatid Exchange ◽  
Familial Breast Cancer ◽  
Breast Cancer Patients

scholarly journals Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Muhammad Usman Rashid ◽  
Noor Muhammad ◽  
Faiz Ali Khan ◽  
Umara Shehzad ◽  
Humaira Naeemi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Familial Breast Cancer ◽  
High Performance ◽  
Breast Cancer Patients ◽  
Germline Variants ◽  
Variants Of Unknown Significance ◽  
Breast Cancer Predisposition ◽  
Novel Variants

Abstract Background The RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan. Methods Comprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines. Results One novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old familial breast cancer patient. The pathogenic variant frequencies were 0.3% (1/302) in early-onset and familial breast cancer patients and 0.8% (1/133) in familial patients. Further, three novel variants of unknown significance, p.I141F, p.S182S, and p.C475C, were identified in familial breast cancer patients at the age of 47, 68, and 47 respectively. All variants were absent in 250 controls. Conclusions Our data suggest that the RECQL gene plays a negligible role in breast cancer predisposition in Pakistan.

The expression of aphidicolin-induced fragile sites in familial breast cancer patients

1993 ◽  
Vol 67 (2) ◽  
pp. 108-112 ◽  
Author(s):  
Erika L.D. Mitchell ◽  
Brian Woodhouse ◽  
Jillian M. Birch ◽  
Mauro F. Santibanez-Koref
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Familial Breast Cancer ◽  
Fragile Sites ◽  
Breast Cancer Patients

Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1530-1530
Author(s):  
Jiaojiao Zhou ◽  
Kun Zhang ◽  
Xuan Zhu ◽  
Mei Deng ◽  
Meng Luo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Germline Mutation ◽  
Familial Breast Cancer ◽  
Sporadic Breast Cancer ◽  
Critical Role ◽  
Germline Mutations ◽  
Chinese Patients ◽  
Breast Cancer Patients ◽  
Loss Of Function

1530 Background: PALB2 (Partner and Localizer of BRCA2) is recently recognized as a breast cancer predisposition gene, which plays a critical role in genome maintenance via interacting with BRCA1/2 and RAD51 when DNA break. Germline loss-of-function mutations in PALB2 lead to increased breast cancer risk. Since the germline mutation frequency of PALB2 is much less than BRCA1/2, the distinct mutation spectrum of PALB2 is still obscure. Therefore, we assessed the mutational frequency, spectrum and predictors of the PALB2 gene in a sequential series of Chinese breast cancer patients from our Research DNA Bank, to verify the utility of PALB2 genetic testing in Chinese population. Methods: We examined Chinese breast cancer cases (n = 2279) who agreed to participate in research DNA banking, recruited from 1990 through 2016. To identify the mutations, complete coding sequence and intron–exon boundaries of PALB2 were screened with Next Generation Sequencing. Personal and family histories were synchronously collected for mutation identification. Results: Among the 2279 breast cancer patients, 307 patients were familial breast cancer cases and the rest 1972 patients were sporadic breast cancer cases. PALB2 mutation carriers accounted for 7.8% (n = 24) and 4.8% (n = 95) in familial and sporadic breast cancer cohort separately. In total, 31 missense, 4 nonsense, 3 frameshift, 3 splicing and 1 codon mutations of PALB2 were identified in this study. Among the pathologic variants, PALB2 c.1744C > T, c.2748+1G > A, c.2749-1G > C, c.3114-1G > A were newly identified in sporadic breast cancer, and c.3271delC newly found in familial breast cancer. Based on in silico analysis, a total of 6 potential damaging missense variants were novelly found in this study, among which the PALB2 c.3035C > T was detected in both sporadic and familial breast cancer. Conclusions: Our data presents the germline mutation status of PALB2 in Chinese patients with breast cancer, suggesting that loss-of-function germline mutations of PALB2 are important in both familial and sporadic breast cancer. Clinically, this information may be helpful in genetic counseling of breast cancer patients with PALB2 germline mutation.

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