Germ-Line Mutation

Known as: Hereditary Mutation, Mutation, Germline, Mutations, Germ-Line 
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes… (More)
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Cutaneous melanoma occurs in both familial and sporadic forms. We investigated a melanoma-prone family through linkage analysis… (More)
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Highly Cited
2006
Highly Cited
2006
MENX is a recessive multiple endocrine neoplasia-like syndrome in the rat. The tumor spectrum in MENX overlaps those of human… (More)
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Highly Cited
2003
Highly Cited
2003
Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma… (More)
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Highly Cited
1999
Highly Cited
1999
Excessive incidence of various cancers is a challenging feature of the hereditary-non-polyposis-colorectal-cancer (HNPCC… (More)
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Highly Cited
1998
Highly Cited
1998
Peutz-Jeghers (PJ) syndrome is an autosomal-dominant disorder characterized by melanocytic macules of the lips, multiple… (More)
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Highly Cited
1997
Highly Cited
1997
A germ-line mutation of hMSH6 (also called GTBP) was found in a hereditary nonpolyposis colorectal cancer (HNPCC)-like patient in… (More)
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Highly Cited
1997
Highly Cited
1997
BACKGROUND Carriers of germ-line mutations in BRCA1 and BRCA2 from families at high risk for cancer have been estimated to have… (More)
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Highly Cited
1997
Highly Cited
1997
Cowden disease (CD) is an autosomal dominant cancer predisposition syndrome associated with an elevated risk for tumours of the… (More)
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Highly Cited
1992
Highly Cited
1992
We searched for germ-line mutations of the APC gene in 79 unrelated patients with familial adenomatous polyposis using a… (More)
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