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Tuesday, August 11, 2020 | History

4 edition of The role of germline CDKN2A mutations in the development of melanoma and other malignancies found in the catalog.

The role of germline CDKN2A mutations in the development of melanoma and other malignancies

David J. Dilworth

The role of germline CDKN2A mutations in the development of melanoma and other malignancies

by David J. Dilworth

  • 163 Want to read
  • 38 Currently reading

Published by National Library of Canada in Ottawa .
Written in English


Edition Notes

Thesis (M.Sc.) -- University of Toronto, 1999.

SeriesCanadian theses = -- Thèses canadiennes
The Physical Object
FormatMicroform
Pagination2 microfiches : negative. --
ID Numbers
Open LibraryOL18911718M
ISBN 100612455351
OCLC/WorldCa51582821

a major locus for melanoma predisposition Germline mutations of the gene within this chromosomal region are responsible for melanoma susceptibility 13,14 though alterations in it have been detected in only % of melanoma-prone families9, CDKN2A mutation prevalence in FAMMM is %. The penetrance of melanoma in -. CDKN2A is the most prominent familial melanoma gene, with mutations occurring in up to 40% of the families. Numerous mutations in the gene are known, several of them representing regional founder mutations. We sought to determine, for the first time, germline mutations in CDKN2A in .

P16 binds to CDK4 and is a cell cycle inhibitor [3] having effects on cellular senescence. p16 is established specifically to play a role in the induction of senescence of melanocytes [8]. p14ARF is also a tumor suppressor gene, and mutations at the CDKN2A locus may lead to melanoma susceptibility if they impact on p16 alone, p14ARF alone [9, Other malignancies associated with familial CMM, specifically those associated with CDKN2A variants, have been described. lence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the the development of melanoma in CDKN2A GW mutation carriers from 4 countries. Int J Cancer. Aug 15 ;(4)

Jul 12,  · Most mutations found in melanoma genomes are likely to be passengers, and are thus reflective of the UV exposure and other mutagenic processes operative over a patient’s travel-australia-planning-guide.com by: The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma In order to identify the role of the CDKN2A gene in patients with clinical crite-ria of hereditary melanoma, we conducted a Germline mutations in the CDKN2A gene of 22 Brazilian melanoma patients.


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The role of germline CDKN2A mutations in the development of melanoma and other malignancies by David J. Dilworth Download PDF EPUB FB2

Melanoma susceptibility genes are related to cell cycle, DNA damage repair, pigmentation traits, and telomere-regulating pathways. Here, we present an overview of the known melanoma susceptibility genes, and the germline mutations of which that have been found to segregate within melanoma families, highlighting the central role of the CDKN2A Author: Érica S.S.

de Araújo, Dimitrius T. Pramio, Ana C.V. Krepischi. To evaluate the prevalence of mutations in the CDKN2A gene encoding p16[INK4a] and p14[ARF] in familial pancreatic cancer (FPC).The genetic basis of FPC is still widely unknown. Recently, it has been shown that germline mutations in the p16[INK4a] Cited by: Dec 08,  · Germline mutations in CDKN2A have been reported in pancreatic cancer families, but genetic counseling for pancreatic cancer risk has been limited by lack of information on CDKN2A mutation carriers outside of selected pancreatic or melanoma kindreds.

Lymphocyte DNA from consecutive, unselected white non-Hispanic patients with pancreatic adenocarcinoma was used to Cited by: Jun 10,  · Abstract.

Background: Germline mutations in CDKN2A have been associated with increased risk of melanoma and tobacco-related cancers in respiratory and upper digestive tissues. In CDKN2A wild-type (wt) melanoma families, other known high-risk, melanoma-predisposing mutations are rare, and no increased risk has been observed for nonskin cancers in this travel-australia-planning-guide.com by: 7.

BAP1 germline mutations predispose to a cancer predisposition syndrome that includes mesothelioma, cutaneous melanoma, uveal melanoma and other cancers.

Oct 15,  · Germline mutations affecting the CDKN2A gene are associated with other cancers, including breast cancer and pancreatic cancer. In some families, CDKN2A gene mutations are associated with development of only one type of cancer.

In other families, mutations can lead to a cancer predisposition syndrome, which increases the risk of developing multiple types of cancer. Hereditary uveal melanoma: A report of a germline mutation in BAP1 Article in Genes Chromosomes and Cancer 52(4) · April with Reads How we measure 'reads'.

Tumour suppressor gene CDKN2A/p16 germline mutations in melanoma patients with additional cancer and cancer in their family history Dace Pjanova1*, Olita Heisele1, Ludmila Engele2, Ingrida Desjatnikova1 1Biomedical Research and Study Centre, University of Latvia, Rātsupītes iela 1, Rīga, LV, Latvia.

We report six of 16 U.K. melanoma families and two of 17 patients with multiple primary melanomas and a negative family history who have between them four different functionally damaging mutations of the CDKN2A (p16) gene: an Arg 24 Pro substitution in exon 1 in one family, a stop codon at codon 44 of exon 1 in one family, and a Met 53 Ile substitution in exon 2 in four travel-australia-planning-guide.com by: Sep 01,  · Conclusions Germline CDKN2A and CDK4 mutations are not common in patients who develop melanoma at an early age.

This finding contrasts with other cancer-predisposition syndromes, in which there is an increased incidence of germline mutations among young travel-australia-planning-guide.com by: The CDKN2A gene has been implicated in cutaneous malignant melanoma (CMM) in about 40% of families with linkage to chromosome 9p21, while a small proportion of families have mutations in the CDK4 gene.

In order to estimate the importance of these genes in the predisposition to CMM in Spanish families and patients we have analysed, by SSCA, a total of 56 subjects belonging to 34 CMM families Cited by: May 21,  · This particular mutation may therefore increase the risk of development of various types of cancers.

An increased risk for pancreatic carcinoma has been reported in melanoma families with CDKN2A mutations (31,32). No pancreatic cancers have, however, been identified among members of our families with germline CDKN2A travel-australia-planning-guide.com by: Most of the so far detected CDKN2A mutations affect the coding regions of the gene.

However, variations in the intronic sequences have also been reported in association with melanoma either or not directly affecting the splice sites. The penetrance of CDKN2A mutations is highly variable and may be modified by other genes or environmental factors.

CDKN2A germline mutations in multiple primary malignancies. The idea that CDKN2A mutations may contribute to the predisposition of other primary malignancies beside melanoma came early in the middle of 90s, right after the identification of the gene’s role in melanoma travel-australia-planning-guide.com: Klára Balogh, Edina Nemes, Gabriella Uhercsák, Zsuzsanna Kahán, György Lázár, Gyula Farkas, Hi.

Nov 20,  · Mutations in the CDKN2A and CDK4 genes predispose to melanoma. From three case-control studies of cutaneous melanoma, we estimated the prevalence and predictors of these mutations for people from regions with widely differing latitudes and melanoma incidence.

Population-based cases and controls from the United Kingdom ( cases, controls) and Australia ( early-onset Cited by: Feb 16,  · The incidence of germline CDKN2A mutations in the general population is very low.

In the first population-based study to address this topic, which analysed melanoma cases from Queensland, Australia, it was estimated that just % of all melanoma cases were due to. Background Germ-line mutations in the CDKN2A tumor-suppressor gene (also known as p16, p16 INK 4a, and MTS1) have been linked to the development of Cited by: Role of the CDKN2A and related cell cycle regulatory genes in melanoma and other human cancers.

Aug 31,  · Indeed, many alterations in human tumors result in the elimination of the entire locus, while the majority of point mutations affect p16INK4a. Nevertheless, specific mutations of p14ARF have been described in different types of human cancers such as colorectal and gastric carcinomas, melanoma and glioblastoma.

CDKN2A mutation screening of individuals with MPM may thus identify high-risk families. We confirmed the role of the P48L and A CDKN2A germline mutations in the development of melanoma tumors by demonstrating that the mutant p 16 proteins are functionally abnormal and.

What is familial malignant melanoma? Familial malignant melanoma is a term usually referring to families in which 2 or more first-degree relatives, such as a parent, sibling, and/or child, have a type of skin cancer called travel-australia-planning-guide.com begins when healthy cells begin to change and grow, out of control forming a mass called a tumor.Among adolescents in the same registry who were aged 15 to 19, two had germ-line alterations in CDKN2A; however, neither had a family history of melanoma.

20 In a retrospective review of 15 Swedish families with known germ-line CDKN2A mutations, the youngest family member to develop melanoma was 18 years. 21 The results of these studies Cited by: 1.Oct 05,  · CDKN2A Mutation Shortens Survival in Melanoma Patients. 2 Replies.

Individuals that carry mutations to the CDKN2A tumor suppressor gene have fold increased risk of developing melanoma and a lifetime penetrance of melanoma of %. In a new study by researchers from the Karolinska University Hospital in Sweden, individuals who had inherited.