Contribution of germline mutations to PARK2 gene inactivation in lung adenocarcinoma

2012 ◽  
Vol 51 (5) ◽  
pp. 462-472 ◽  
Author(s):  
Reika Iwakawa ◽  
Hirokazu Okayama ◽  
Takashi Kohno ◽  
Aiko Sato-Otsubo ◽  
Seishi Ogawa ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Germline Mutations ◽  
Gene Inactivation

Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients

Lung Cancer ◽  
2014 ◽  
Vol 85 (2) ◽  
pp. 168-174 ◽  
Author(s):  
Alessandra Renieri ◽  
Maria Antonietta Mencarelli ◽  
Francesco Cetta ◽  
Margherita Baldassarri ◽  
Francesca Mari ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Germline Mutations

scholarly journals Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma

2017 ◽  
Vol 12 (11) ◽  
pp. 1673-1678 ◽  
Author(s):  
Erin M. Parry ◽  
Dustin L. Gable ◽  
Susan E. Stanley ◽  
Sara E. Khalil ◽  
Valentin Antonescu ◽  
...  
Keyword(s):  
Dna Repair ◽  
Lung Adenocarcinoma ◽  
Germline Mutations ◽  
Dna Repair Genes ◽  
Repair Genes

Novel Germline Mutation in BCAR1 in Two Siblings With Lung Cancer: a Possible Susceptibility Gene

2020 ◽  
Author(s):  
Zhu Kuikui ◽  
Zhao Yangchao ◽  
Wu Lu ◽  
Zhang Sijia ◽  
Zong Yan ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Squamous Cell Carcinoma ◽  
Lung Adenocarcinoma ◽  
Somatic Mutations ◽  
Susceptibility Gene ◽  
Genetic Diagnosis ◽  
Lung Squamous Cell Carcinoma ◽  
Germline Mutations ◽  
Causative Mechanism ◽  
Functional Analyses

Abstract Background: Lung cancer is the most prevalent malignancy worldwide. Most patients were sporadic and carried somatic mutations in hotspot genes. At present, accumulating researches had identified several germline mutations that predispose patients to lung cancer. In this report, two siblings were diagnosed as lung squamous cell carcinoma and lung adenocarcinoma, respectively. Results: The two siblings shared similar features of a germline insertion of 11 bp (GCCCTGGCATT) in BCAR1 producing a frameshift at codon 314 which is located at the substrate domain. The BCAR1 was previously demonstrated to be associated with lung cancer. The variant detected in this report would impair the regulation and functions of BRCA1 in some extent, thus may promote lung cancer tumorigenesis. Our findings suggest that BCAR1 is a possible susceptibility gene for lung cancer, and its functional analyses in lung cancer need further investigation.Conclusions: In this study, we first reported a novel causative mechanism of Lung cancer: an insertion of 11 bp in BCAR1 gene, which can be helpful in the genetic diagnosis of this disease.

Germline mutations and onset of lung adenocarcinoma in smokers and nonsmokers.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1518-1518
Author(s):  
Karen L. Reckamp ◽  
Thomas Paul Slavin ◽  
Stacy W. Gray ◽  
Carolyn E. Behrendt ◽  
Danielle Castillo ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Dna Repair ◽  
Cancer Screening ◽  
Lung Adenocarcinoma ◽  
Lung Cancer Screening ◽  
Germline Mutations ◽  
Age At Diagnosis ◽  
Smoking History ◽  
Younger Age ◽  
Never Smokers

1518 Background: Eligibility for lung cancer screening is based largely on pack-years of smoking, missing many cases. To propose additional groups for screening, this observational study evaluated whether germline mutations associated with cancer risk accelerate onset of lung adenocarcinoma (LA) in ever- and never-smokers. Methods: Patients with LA and family history of cancer were recruited from our oncology clinic and the Clinical Cancer Genomics Community Research Network. With consent, blood samples were screened by large multi-gene panel for 4 categories of germline mutation [lung cancer-associated genes ( TP53, EGFR); BRCA2; other genes in Fanconi anemia (FA) pathway; other DNA repair genes]. Accelerated failure-time models of age at LA diagnosis, adjusted for sex, ethnicity, and packs per day, were constructed for never-smokers and ever-smokers. Statistical significance, at p<0.05 limited the False Discovery Rate to 5% across 8 hypotheses. Results: In never-smokers with LA (n=104), mutated BRCA2, TP53 or EGFR were associated with younger age at diagnosis, while mutation in other FA or DNA repair gene was not. In ever-smokers with LA (n=65), mutated BRCA2 and other FA gene were associated with younger age at diagnosis, while other mutation categories were not (Table). Conclusions: Regardless of smoking history, BRCA2 mutation carriers experience accelerated onset of LA, as do never-smokers carrying TP53 or EGFR mutation and ever-smokers with mutation in FA gene other than BRCA2. With the exception of TP53 carriers (who merit whole body MRI), lung cancer screening with low-dose computed tomography, starting earlier in adulthood than usual, may be warranted for individuals with germline mutations in these genes. Age at Diagnosis of Lung Adenocarcinoma, by Germline Mutation and Smoking History, Adjusted for Sex, Ethnicity, and Packs per Day. [Table: see text]

Germline mutations and age at onset of lung adenocarcinoma

Cancer ◽  
2021 ◽  
Author(s):  
Karen L. Reckamp ◽  
Carolyn E. Behrendt ◽  
Thomas P. Slavin ◽  
Stacy W. Gray ◽  
Danielle K. Castillo ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Age At Onset ◽  
Germline Mutations

scholarly journals Germline mutations in young non-smoking women with lung adenocarcinoma

Lung Cancer ◽  
2018 ◽  
Vol 122 ◽  
pp. 76-82 ◽  
Author(s):  
Iikki Donner ◽  
Riku Katainen ◽  
Lauri J. Sipilä ◽  
Mervi Aavikko ◽  
Eero Pukkala ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Germline Mutations

Abstract #619 Primary Lung Adenocarcinoma in a Sea of Metastatic Thyroid Cancer

2019 ◽  
Vol 25 ◽  
pp. 319-320
Author(s):  
Lourdes Rodriguez ◽  
Mary Baker ◽  
Daniel W Karakla ◽  
David Lieb
Keyword(s):  
Thyroid Cancer ◽  
Lung Adenocarcinoma ◽  
Primary Lung Adenocarcinoma ◽  
Metastatic Thyroid Cancer
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