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Topic: Germline mutation

	Germline mutation - Wikipedia, the free encyclopedia
		A Germline Mutation is any detectable, heritable variation in the lineage of germ cells.
		Mutations in these cells are transmitted to offspring while those in somatic cells are not.
		However, in plants, the reproductive cells in a particular flower will be derived from the same meristem as the cells in that flower and on the stem leading to the flower, which is a different population of cells than those that give rise to the other flowers on the plant.
	en.wikipedia.org /wiki/Germline_mutation (163 words)

	Retinoblastoma
		RB1 mutation is found in the DNA of white blood cells of the affected individual, (s)he has a high probability of having a germline mutation.
		If neither disease-causing mutation is found in the DNA of white blood cells, the affected individual has a low probability of having a germline mutation; however, the possibility that the individual has mosaicism for the disease-causing mutation still exists.
		RB1 mutations identified in the tumor is also detected in peripheral blood, either as a heterozygous mutation (indicating the presence of a germline mutation) or in a mosaic state (indicating the presence of a somatic mutation, i.e., one that occurred after conception).
	www.geneclinics.org /profiles/retinoblastoma/details.html (3867 words)

	Breast Cancer Genetics
		Mutations in the androgen receptor gene (AR) on the X chromosome have been found in cases of male breast cancer.
		Mutation in the RAD51 gene was also found in patients with familial breast cancer.
		If there is any mutation in the p53 tumour suppressor gene, p21 protein cannot bind the cdk2 protein and as as a result of this, the p21 protein is not made available to function as the 'stop signal' for cell division.
	www.au-kbc.org /research_areas/bio/projects/bcinfo/gen/bcgenetics1.html (901 words)

	Spontaneous Mutation (Site not responding. Last check: 2007-11-04)
		Thus, 1/3 of mutations in hemophilia B may well be produced by an endogenous mutational mechanism that results from poor repair of the spontaneous deamination of 5-methylcytosine to thymine.
		Thus, the pattern of mutation in the past 150 years is compatible with the age old pattern that shaped the dinucleotide frequencies of the mammalian genome.
		The common mutations derived from founders are serine60, methionine296, and threonine397.
	www.cityofhope.org /molgen/spontmut.asp (1444 words)

	Mutation, germline definition - Medical Dictionary definitions of popular medical terms
		Mutation, germline: A heritable change in the DNA that occurred in a germ cell (a cell destined to become an egg or in the sperm) or the zygote (the conceptus) at the single-cell stage.
		When transmitted to a child, a germline mutation is incorporated in every cell of their body.
		A germline mutation is in contrast to a somatic mutation which is acquired in a single body cell.
	www.medicinenet.com /script/main/art.asp?ArticleKey=15924 (161 words)

	Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 ...
		Mutations outside the vertical lines at codons 168 and 1580, and at codon 332 (in the alternatively spliced fragment of exon 9), respectively, are considered to be associated with attenuated FAP.
		In conclusion, identification of germline mutations in FAP patients is important for predictive testing in subjects at risk.
		Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.
	gut.bmj.com /cgi/content/full/48/4/515 (4344 words)

	Course:SOM/Block 2/Fall 2006/IQ 4/Week 9/Case 2 - CaseWiki
		Mutations usually result in the loss or inactivation of the RB1 gene so that cell growth is no longer appropriately regulated and cells become "immortalized."
		Mosiac, and the germline mutation is not detected, the risk to siblings is 3%.
		Assuming he has a germline mutation, the risk would be 50%, just whether or not he passes it on.
	wiki.case.edu /Course:SOM/Block_2/Fall_2006/IQ_4/Week_9/Case_2 (1119 words)

	2004 International Society of Gynecological Pathologists Handout #2
		Germline BRCA mutations are responsible for the vast majority of hereditary ovarian cancers.
		The development of carcinoma in BRCA germline mutation carriers occurs when the remaining wild-type BRCA allele on the opposite chromosome is inactivated ("biallelic inactivation") and additional genetic mutations occur.
		The development of rare malignancies in germline BRCA carriers, such as dysgerminoma, may be a reflection of the variable tissue penetrance by BRCA germline mutations.
	www.uscap.org /site~/93rd/companion12h2.htm (5091 words)

	Mutation definition - Medical Dictionary definitions of popular medical terms
		Mutations are the necessary raw material of evolution.
		Mutations can be caused by many factors including environmental insults such as radiation and mutagenic chemicals.
		Mutations are sometimes attributed to random chance events.
	www.medterms.com /script/main/art.asp?articlekey=4471 (216 words)

	Mutations in DNA (Site not responding. Last check: 2007-11-04)
		Although all polymorphisms are the result of a mutation in the gene, geneticists only refer to a change as a mutation when it is not part of the normal variations between people.
		Germline mutations are what cause diseases to run in families, and are responsible for the kind of hereditary diseases covered by Genetic Health.
		Mutations that result in the addition of extra DNA are called insertions.
	www.genetichealth.com /G101_Changes_in_DNA.shtml (806 words)

	eMedicine - Li-Fraumeni Syndrome : Article by Kavita Patel, MD (Site not responding. Last check: 2007-11-04)
		Mutations can be inherited or can arise de novo early in embryogenesis or in one of the parent's germ cells.
		Mutations in exons 5-8 are also associated with a higher overall incidence in family members with breast cancer and CNS tumors diagnosed when patients are younger than 45 years, suggesting a higher rate of penetrance of the cancer phenotype in families with these types of inherited TP53 defects.
		Inheritance of a germline mutation of the TP53 tumor suppressor gene is a predisposing genetic factor in LFS family members.
	www.emedicine.com /ped/topic1305.htm (3215 words)

	Retinoblastoma
		According to Knudson’s model, the initial "hit" is a germline mutation and, as such, is found in all somatic cells of the offspring.
		The probability that one mutational event will occur during the time of retinal development is greater than two postnatal independent events and would explain why so-called inherited tumors present at a younger age.
		Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation?
	www.moffitt.org /moffittapps/ccj/v5n4/article2.html (3239 words)

	Genetic Health Glossary
		All traits and diseases that are passed on from parent to child (inherited) are due to germline mutations.
		This is different from a somatic mutation, in which a change has occurred in any cell in the body except for the sperm or egg.
		Examples of a somatic mutation might be a mutation in a skin cell caused by sun exposure.
	www.genetichealth.com /glossary/germline_mutation.html (118 words)

	De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer -- van der Luijt et ... (Site not responding. Last check: 2007-11-04)
		De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer -- van der Luijt et al.
		Mutations in the BRCA2 gene are usually detected in patients with a family history of breast/ovarian cancer or in isolated
		Mutation analysis of the BRCA1 and BRCA2 genes in a hospital-based series of patients with risk factors for hereditary breast cancer.
	jmg.bmjjournals.com /cgi/content/full/38/2/102 (2677 words)

	IARC TP53 DATABASE - Aim and scope (Site not responding. Last check: 2007-11-04)
		This information is useful to compile tumor-specific mutation patterns and to draw hypotheses on the nature of the molecular events involved in TP53 mutagenesis.
		Criteria for inclusion are the following: a) individuals carrying a sequenced TP53 germline mutation, affected or not by a cancer, b) individuals affected by a cancer and belonging to a family defined as LFS or LFL, presenting or not a germline mutation (TP53 or other).
		Since we mainly concentrated on individuals carrying a TP53 germline mutation, the database does not include LFS or LFL families described in the literature and for which TP53 mutation have not been investigated.
	www-p53.iarc.fr /p53aim.html (528 words)

	BioMed Central \| Abstract \| Sexual selection, germline mutation rate and sperm competition
		We propose that sexual selection is associated with elevated mutation rates, changing the balance between mutation and selection, thereby increasing variance in fitness and hence the benefits to be obtained from good genes sexual selection.
		Minisatellite mutation rates were not related to longevity, suggesting a meiotic rather than a mitotic origin of mutations.
		Increased mutation was not associated with increased sperm production, and we suggest that species with intense sexual selection may maintain elevated mutation rates because sexual selection continuously benefits viability alleles expressed in condition-dependent characters.
	www.biomedcentral.com /1471-2148/3/6/abstract (394 words)

	A novel case with germline p53 gene mutation having concurrent multiple primary colon tumours -- Miyaki et al. 52 (2): ...
		is associated with germline mutations of the p53 gene,
		Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.
		Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
	gut.bmj.com /cgi/content/full/52/2/304 (1948 words)

	Germline mutation of the tumour suppressor PTEN in Proteus syndrome -- Smith et al. 39 (12): 937 -- Journal of Medical ... (Site not responding. Last check: 2007-11-04)
		Germline mutation of the tumour suppressor PTEN in Proteus syndrome -- Smith et al.
		Germline mutation of the tumour suppressor PTEN in Proteus syndrome
		germline mutation of the tumour suppressor gene PTEN.
	jmg.bmj.com /cgi/content/full/39/12/937 (2685 words)

	Germline p53 Mutation in a Patient with Multiple Primary Cancers -- Kimura et al. 31 (7): 349 -- Japanese Journal of ... (Site not responding. Last check: 2007-11-04)
		Germline p53 Mutation in a Patient with Multiple Primary Cancers -- Kimura et al.
		substitution at codon 106 was a germline missense mutation (Fig.
		Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
	jjco.oxfordjournals.org /cgi/content/full/31/7/349 (1201 words)

	Mutation Cluster Region, Association Between Germline and Somatic Mutations and Genotype-Phenotype Correlation in Upper ... (Site not responding. Last check: 2007-11-04)
		Mutation Cluster Region, Association Between Germline and Somatic Mutations and Genotype-Phenotype Correlation in Upper Gastrointestinal Familial Adenomatous Polyposis -- Groves et al.
		for mutations in exons 5 to 9 and 13 to 15I in upper gastrointestinal
		Lamlum H, Papadopoulou A, Ilyas M, Rowan A, Gillet C, Hanby A, Talbot I, Bodmer W, Tomlinson I: APC mutations are sufficient for the growth of early colorectal adenomas.
	ajp.amjpathol.org /cgi/content/full/160/6/2055 (3726 words)

	Germline CDKN2A mutation implicated in predisposition to multiple myeloma -- Dilworth et al. 95 (5): 1869 -- Blood
		Germline CDKN2A mutation implicated in predisposition to multiple myeloma -- Dilworth et al.
		The +24 base pair mutation cosegregates with melanoma and myeloma in family A, and the wild type allele is deleted in the malignant plasma cells of patient No. II:1.
		Note that all 5 individuals harboring the +24 mutation have developed cancer, while patients No. I:2, II:4, and II:6 are wild type for both alleles and have not developed any malignancy.
	www.bloodjournal.org /cgi/content/full/95/5/1869 (1990 words)

	Allele diversity and germline mutation at the insulin minisatellite -- Stead and Jeffreys 9 (5): 713 -- Human Molecular ...
		Allele diversity and germline mutation at the insulin minisatellite -- Stead and Jeffreys 9 (5): 713 -- Human Molecular Genetics
		Allele diversity and germline mutation at the insulin minisatellite
		Three rare alleles which may have arisen by complex mutation processes are shown aligned to potential progenitor alleles detected in the diversity survey.
	hmg.oxfordjournals.org /cgi/content/full/9/5/713 (6725 words)

	A New Germline RET Mutation Apparently Devoid of Transforming Activity Serendipitously Discovered in a Patient with ... (Site not responding. Last check: 2007-11-04)
		A New Germline RET Mutation Apparently Devoid of Transforming Activity Serendipitously Discovered in a Patient with Atrophic Autoimmune Thyroiditis and Primary Ovarian Failure -- Orgiana et al.
		of G691S and S904S polymorphisms with R694Q mutation in the
		Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis.
	jcem.endojournals.org /cgi/content/full/89/10/4810 (4139 words)

	Amazon.com: Detection of induced male germline mutation: Correlations and comparisons between traditional germline ... (Site not responding. Last check: 2007-11-04)
		In this paper, we have compiled the limited amount of experimental data that are currently available to make conclusions regarding the comparative ability of the more recently developed assays to detect germline mutations induced by chemical and radiological agents.
		The measurement of induced ESTR instability represents a relatively sensitive method of identifying agents causing germline mutation in rodents, and may also be useful for bio-monitoring exposed individuals in the human population.
		Any future use of the TGR and ESTR germline mutation assays in a regulatory testing context will entail more robust and extensive characterization of assay performance.
	www.amazon.com /Detection-induced-male-germline-mutation/dp/B000HBJWWY (484 words)

	De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was ... (Site not responding. Last check: 2007-11-04)
		De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones -- Delatycki et al.
		De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones
		The causative mutation in the father and son lies in exon 3
	jmg.bmj.com /cgi/content/full/40/8/e92 (2286 words)

	Mutation and Cancer: The Antecedents to Our Studies of Adaptive Mutation -- Cairns 148 (4): 1433 -- Genetics
		germline is not in contact with the environment, its mutation
		In summary, a significant proportion of the mutations that arise
		of B mutations in the rest of the population.
	www.genetics.org /cgi/content/full/148/4/1433 (6216 words)

	Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds - Nature Genetics
		Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds
		This surprising finding demonstrates that homozygotes for this CDKN2 mutation are viable, and suggests the presence of a genetic mechanism that can compensate for the functional loss of p16.
		Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.
	www.nature.com /ng/journal/v10/n3/abs/ng0795-351.html (487 words)

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