scholarly journals STK11 gene mutations among patients with sporadic breast cancer

Genetika ◽  
2017 ◽  
Vol 49 (2) ◽  
pp. 399-413
Author(s):  
Georgi Antov ◽  
Maria Krasteva ◽  
Silvia Andonova ◽  
Alexey Savov ◽  
Svetla Angelova ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Sporadic Breast Cancer ◽  
Rare Event ◽  
Gene Mutations ◽  
Genetic Alterations ◽  
Minor Role ◽  
Stk11 Gene ◽  
Blood Specimens ◽  
Peutz Jeghers Syndrome ◽  
A Minor

Germline mutations affecting STK11 (LRG_319) are profoundly studied in relation to Peutz-Jeghers syndrome, predisposing to the development of various cancers at multiple sites. Though somatic mutations in STK11 are found to be present in several cancers, limited data on its involvement in sporadic breast cancer are available. The present study aims to evaluate the frequency and spectrum of genetic alterations in STK11 in a group of Bulgarian patients with sporadic breast cancer. A total of 73 tumor and 22 corresponding blood specimens derived from the patients, and 10 blood samples from clinically healthy controls were analyzed. High Resolution Melting analysis followed by Sanger sequencing and bioinformatic prediction tools were utilized. Seven patients (9.58%) harbored STK11 alterations, only two (2.74%) of which are exonic: one nonsense c.322A>T; p.K108X (deleterious) and one missense c.440G>A; p.Arg147His (of unknown significance). Two intronic variants were also observed: c.290+36G>T and c. *16+18C>A (novel). To our knowledge the results represent the first data indicating presence of STK11 alterations in patients with sporadic breast cancer. The limited number of the detected deleterious mutations indicates that mutational inactivation of the gene is a rare event and probably plays a minor role in sporadic breast carcinogenesis.

scholarly journals Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome

2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Zhiheng Huang ◽  
Shijian Miao ◽  
Lin Wang ◽  
Ping Zhang ◽  
Bingbing Wu ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Gene Mutations ◽  
Chinese Children ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome

Germline Mutation of the LKB1/STK11 Gene with Loss of the Normal Allele in an Aggressive Breast Cancer of Peutz-Jeghers Syndrome

Oncology ◽  
2004 ◽  
Vol 67 (5-6) ◽  
pp. 476-479 ◽  
Author(s):  
Chikashi Nakanishi ◽  
Tatsuro Yamaguchi ◽  
Takeru Iijima ◽  
Shigehira Saji ◽  
Masakazu Toi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Germline Mutation ◽  
Normal Allele ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome ◽  
Aggressive Breast Cancer

scholarly journals STK11 gene mutations in patients with Peutz-Jeghers syndrome

2015 ◽  
Vol 23 (2) ◽  
pp. 332 ◽  
Author(s):  
Xu-Yan Mao ◽  
Ya-Fei Zhang ◽  
Gao-Ping Mao ◽  
Hai-Feng Wang ◽  
Shou-Bin Ning
Keyword(s):  
Gene Mutations ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome

scholarly journals ATM gene mutations in sporadic breast cancer patients from Brazil

SpringerPlus ◽  
2015 ◽  
Vol 4 (1) ◽  
Author(s):  
Flavia Rotea Mangone ◽  
Elisabete C Miracca ◽  
Harriet E Feilotter ◽  
Lois M Mulligan ◽  
Maria Aparecida Nagai
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Sporadic Breast Cancer ◽  
Gene Mutations ◽  
Breast Cancer Patients ◽  
Atm Gene

Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations

2007 ◽  
Vol 112 (1) ◽  
pp. 159-164 ◽  
Author(s):  
Zdenek Kleibl ◽  
Ondrej Havranek ◽  
Jan Novotny ◽  
Petra Kleiblova ◽  
Pavel Soucek ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Sporadic Breast Cancer ◽  
Genetic Alterations ◽  
Fha Domain

A Case of Peutz-Jeghers Syndrome With Breast Cancer, Bilateral Sex Cord Tumor With Annular Tubules, and Adenoma Malignum Caused by STK11 Gene Mutation

2009 ◽  
Vol 19 (9) ◽  
pp. 1591-1594 ◽  
Author(s):  
Aine Clements ◽  
Katina Robison ◽  
Cornelius Granai ◽  
Margaret M. Steinhoff ◽  
Jennifer Scalia-Wilbur ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Autosomal Dominant ◽  
Pelvic Mass ◽  
Gynecologic Malignancies ◽  
Autosomal Dominant Disorder ◽  
Stk11 Gene ◽  
Stromal Tumors ◽  
Increased Risk ◽  
Adenoma Malignum ◽  
Peutz Jeghers Syndrome

Background:Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder, and women with this syndrome are at an increased risk of developing intestinal and extraintestinal malignancies including breast and gynecologic malignancies. This case report presents a patient with PJS with a concomitant breast cancer, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.Case:A 43-year-old woman presented with an advanced-stage breast cancer and a pelvic mass. The patient was treated with neoadjuvant chemotherapy followed by laparotomy with a hysterectomy and oophorectomy. Final pathologic examination revealed a concomitant breast cancer with metastasis to the ovaries, bilateral stromal tumors with annular tubules of the ovaries, and adenoma malignum of the cervix.Conclusions:Patients with PJS are at a high risk for intestinal and extraintestinal malignancies and can present with multiple concomitant malignancies.

Spontaneous Mutation of Cell Oncogenes Plays a Minor Role in Neoplastic Transformation of Virus-Induced Murine T-Cell Lymphomas

1995 ◽  
Vol 81 (4) ◽  
pp. 268-272
Author(s):  
Daniela Gasparotto ◽  
Roberta Maestro ◽  
Tamara Vukosavljevic ◽  
Sara Piccinin ◽  
Alberto Sandrin ◽  
...  
Keyword(s):  
T Cell ◽  
Spontaneous Mutation ◽  
Gene Mutations ◽  
Experimental System ◽  
P53 Gene ◽  
Minor Role ◽  
Ras Gene ◽  
Spontaneous Mutagenesis ◽  
T Cell Lymphomas ◽  
A Minor

Mink cell focus-forming viruses (MCF) are slow-transforming retroviruses that are able to accelerate the appearance of T-cell lymphomas when injected in newborn AKR mice. Activation of proto-oncogenes by proviral insertion is thought to be the major mechanism by which these viruses exert their oncogenic potential. However, molecular phenomena not strictly virus-determined, such as mutations in cellular oncogenes/tumor suppressor genes or chromosome aberrations, have been hypothesized to contribute to the achievement of the fully neoplastic phenotype in MCF-infected mice. To evaluate the role of spontaneous mutagenesis phenomena in murine virus-induced lymphomagenesis, we analyzed a series of 18 MCF247-induced thymic lymphomas and derived cell lines for the presence of p53 and c-ras gene mutations. Only 1 mutation at the p53 gene and 1 mutation at the ki-ras gene were detected in our study. Our results suggest that spontaneous mutagenesis plays a minor role in virus-induced lymphomagenesis and support the notion that multiple proviral insertions could be the prevalent mechanism of transformation in this experimental system.

Sign in / Sign up

Export Citation Format

Share Document