Genetics and pulmonary medicine bullet  7: Somatic mutations in the development of lung cancer

Roland, Martín; Rudd, Robin

doi:10.1136/thx.53.11.979

Cited by 17 publications

(6 citation statements)

References 41 publications

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“…8±12 However, with molecular markers being used to identify preneoplastic changes in both sputum 13±15 and bronchial biopsies, 16,17 there has been a resurgence of interest in both the screening for lung cancer and carcinogenesis. 18,19 The introduction of a new classification system is therefore timely, but the value of such a system is highly dependent on its reproducibility. We have therefore circulated a series of intra-epithelial preneoplastic squamous lesions to a panel of histopathologists, including those with a special interest in pulmonary pathology, generalists and trainees, to look at the inter-observer & intra-observer variation when applying the new WHO/IASLC classification.…”

Section: Introductionsupporting

confidence: 90%

“…One reason for this is that screening for lung cancer, either by sputum examination or chest radiography, has repeatedly been shown not to affect mortality rates 8–12 . However, with molecular markers being used to identify preneoplastic changes in both sputum 13–15 and bronchial biopsies, 16,17 there has been a resurgence of interest in both the screening for lung cancer and carcinogenesis 18,19 . The introduction of a new classification system is therefore timely, but the value of such a system is highly dependent on its reproducibility.…”

Section: Introductionmentioning

confidence: 99%

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Reproducibility of the WHO/IASLC grading system for pre‐invasive squamous lesions of the bronchus: a study of inter‐observer and intra‐observer variation

Nicholson¹,

Perry²,

Cury

et al. 2001

Histopathology

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Section: Introductionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Reproducibility of the WHO/IASLC grading system for pre‐invasive squamous lesions of the bronchus: a study of inter‐observer and intra‐observer variation

Nicholson¹,

Perry²,

Cury

et al. 2001

Histopathology

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“…Sigara içmeyen KHDAK olgulardaki uzun yaşam süresinin başka bir nedeni ise komorbit hastalığın daha az olması ve akciğer fonksiyonlarının korunmasıdır. Diğer bir çalışmada ise, farklı olarak sigara içen ve içme-yen grup arasında sağ-kalım yönünden istatistiksel olarak anlamlı fark bulunamamıştır [13][14][15][16]. Çalışmamızda sigara içmeyen olgu oranı %15.2 olmakla birlikte sigara içimi-nin yaşam süresini etkilemediği görülmüştür.…”

Section: Discussionunclassified

Analysis of Prognostic Factors in Stage IIIB-IV Non-Small Cell Lung Cancer Cases who Received Chemotheraphy

Arınç¹,

Erdal²,

Ece³

et al. 2010

Tur Toraks Der

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Amaç:İleri evre akciğer kanserli olgularda yaşam süresini etkileyen prognostik faktörler tam olarak tanımlanmamıştır. Gereç ve GİRİŞAkciğer kanseri, 20. yüzyılın başlarında nadir bir hastalık iken, bugün her iki cinsiyette de kanserden ölümle-rinin başında yer almaktadır [1,2]. Akciğer kanserli olguların yaklaşık %80'i küçük hücreli dışı akciğer kanseridir. Yalnızca %10-15 olgu cerrahi için aday olup bunların ise yarısında lokal veya uzak nüks gözlenir [3]. İnoperabl KHDAK olgularında kişisel ve tümör ile ilgili faktörler yaşam süresini tedaviden daha çok etkiler. KHDAK olgularında, hastalığın yaygınlık derecesi, performans durumu, kilo kaybı, cinsiyet ve serum LDH düzeyi bilinen başlıca prognostik faktörlerdir. Prognostik faktör-lerin bilinmesi en iyi tedavi seçeneğinin belirlenmesinde ve hastaların daha iyi prognostik alt gruplara ayırmasına yardımcı olur [4].Çalışmamızda, evre IIIB, IV küçük hücreli dışı akciğer kanserli olgularda tedavi öncesi prognostik faktörlerin sağ-kalım üzerine etkilerini değerlendirmeyi amaçladık.

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“…Further, the concept that only germinal mutations have phenotypic significance has been questioned with the discovery that gene mutations associated with a number of cancers are in fact somatic in nature, i.e. in lung [Roland and Rudd, 1998], colorectal [Bosman, 1999], and prostate cancers [Taplin et al, 1995]. Certain theories on the origin of cancer now propose that accumulation of somatic mutations or "hits" in a number of steps involved in pathways and cascades lead to the ultimate cancer phenotype [Jackson and Loeb, 1998].…”

Section: Somatic Mutations and Mosaicismmentioning

confidence: 99%

Variable expressivity and mutation databases: The androgen receptor gene mutations database

2001

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For over 50 years genetics has presumed that variations in phenotypic expression have, for the most part, been the result of alterations in genotype. The importance and value of mutation databases has been based on the premise that the same gene or allelic variation in a specific gene that has been proven to determine a specific phenotype, will always produce the same phenotype. However, recent evidence has shown that so called "simple" Mendelian disorders or monogenic traits are often far from simple, exhibiting phenotypic variation (variable expressivity) that cannot be explained solely by a gene or allelic alteration. The AR gene mutations database now lists 25 cases where different degrees of androgen insensitivity are caused by identical mutations in the androgen receptor gene. In five of these cases the phenotypic variability is due to somatic mosaicism, that is, somatic mutations that occur in only certain cells of androgen-sensitive tissue. Recently, a number of other cases of variable expressivity have also been linked to somatic mosaicism. The impact of variable expressivity due to somatic mutations and mosaicism on mutation databases is discussed. In particular, the effect of an organism exhibiting genetic heterogeneity within its tissues, and the possibility of an organism's genotype changing over its lifetime, are considered to have important implications for mutation databases in the future.

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Genetics and pulmonary medicine bullet 7: Somatic mutations in the development of lung cancer

Cited by 17 publications

References 41 publications

Reproducibility of the WHO/IASLC grading system for pre‐invasive squamous lesions of the bronchus: a study of inter‐observer and intra‐observer variation

Reproducibility of the WHO/IASLC grading system for pre‐invasive squamous lesions of the bronchus: a study of inter‐observer and intra‐observer variation

Analysis of Prognostic Factors in Stage IIIB-IV Non-Small Cell Lung Cancer Cases who Received Chemotheraphy

Variable expressivity and mutation databases: The androgen receptor gene mutations database

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