BRCA1 Gene Exon 11 Mutations in Uighur and Han Women with Early-onset Sporadic Breast Cancer in the Northwest Region of China

Abstract Background: Except for BRCA1/2, there is no data on the relationship between genetic counseling for the range of mutations and early-onset breast cancer populations. We looked for a link between inherited genes and the molecular subtype of early-onset breast cancer.Methods: We genotyped 1214 individuals with early-onset sporadic breast cancer (age≤40 years) who were BRCA1/2-negative in 3 genes: TP53, PALB2, and RECQL. We focus on the immunohistochemistry characteristics that are unique to each patient. Results: The mutation rates of TP53, PALB2, and RECQL in 1214 BRCA-negative young individuals were 4/1214(0.33%), 8/1214(0.66%), 2/1214(0.16%), respectively. The fact that the TP53 mutation rate was 3.49% among estrogen receptor-and/or progesterone receptor-positive, human epidermal growth factor receptor 2 (HER-2) amplification patients under the age of 35 (P<0.001) was particularly noteworthy. Conclusion: According to the findings, TP53 genetic testing should focus on women under 35 with HR-positive and HER2-positve IDC patients.

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A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer

Pathologie Biologie ◽

10.1016/j.patbio.2015.07.009 ◽

2015 ◽

Vol 63 (4-5) ◽

pp. 185-189 ◽

Cited By ~ 4

Author(s):

N. Hadiji-Abbes ◽

F. Trifa ◽

M. Choura ◽

A. Khabir ◽

T. Sellami-Boudawara ◽

...

Keyword(s):

Breast Cancer ◽

Early Onset ◽

Sporadic Breast Cancer

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Analysis of BRCA1 gene exon 2 mutation in breast cancer patients in a South Indian population

Research Journal of Pharmacy and Technology ◽

10.5958/0974-360x.2018.00840.5 ◽

2018 ◽

Vol 11 (10) ◽

pp. 4592

Author(s):

Andrea Mary Francis ◽

R. Ramya ◽

Nalini Ganesan ◽

P. Kumarasamy ◽

Solomon F. D Paul ◽

...

Keyword(s):

Breast Cancer ◽

Cancer Patients ◽

Indian Population ◽

Brca1 Gene ◽

South Indian Population ◽

Breast Cancer Patients ◽

Exon 2 ◽

South Indian ◽

Gene Exon

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Germ-line BRCA1 mutations in women with sporadic breast cancer: clinical correlations.

Journal of Clinical Oncology ◽

10.1200/jco.1998.16.1.115 ◽

1998 ◽

Vol 16 (1) ◽

pp. 115-120 ◽

Cited By ~ 19

Author(s):

E Garcia-Patiño ◽

B Gomendio ◽

M Provencio ◽

J M Silva ◽

J M Garcia ◽

...

Keyword(s):

Breast Cancer ◽

Sporadic Breast Cancer ◽

Germ Line ◽

Late Onset ◽

Brca1 Gene ◽

Peripheral Blood Lymphocytes ◽

Missense Mutations ◽

Direct Dna Sequencing ◽

Brca1 Mutations ◽

Germ Line Mutations

PURPOSE Sporadic nonhereditary breast cancer is recognized as the most common form of this malignancy. Presence of germ-line mutations in the BRCA1 gene of these tumors is an infrequent event. We undertook the present study to evaluate the prevalence of germ-line mutations in patients diagnosed with sporadic breast cancer, and to delimit the clinical spectrum of this subgroup of patients with germ-line mutations and their differences with respect to patients with no evidence of BRCA1 gene mutations. METHODS We studied 105 patients diagnosed with breast cancer, selected from among our living patients; those with carcinoma-in-situ and those with a definite family history of breast or ovarian cancer were excluded. Genomic DNA, obtained from peripheral-blood lymphocytes, was studied for BRCA1 mutations by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) and direct DNA sequencing. Fourteen clinicopathologic parameters were analyzed in each patient. RESULTS Six (5.7%) frameshift mutations that corresponded to truncating proteins and three missense mutations, the functional meaning of which remains speculative, were identified. The patients with germ-line mutations were found to have a more advanced age at diagnosis, as well as a longer median survival (51 months). CONCLUSION Women with sporadic breast cancer of late onset may display a significant incidence of germline BRCA1 mutations, which occur at a rate not previously determined in this group of patients. The presence of variations in the sequence of the BRCA1 gene could influence the longer survival observed in these patients.

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