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Germ-Line Mutation
Known as:
Hereditary Mutation
, Mutation, Germline
, Mutations, Germ-Line
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Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes…
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National Institutes of Health
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Related topics
Related topics
3 relations
Germline Mutation Abnormality
aspects of radiation effects
physiological aspects
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
DNA-Repair Defects and Olaparib in Metastatic Prostate Cancer.
J. Mateo
,
S. Carreira
,
+48 authors
J. D. de Bono
New England Journal of Medicine
2015
Corpus ID: 205098597
BACKGROUND Prostate cancer is a heterogeneous disease, but current treatments are not based on molecular stratification. We…
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Highly Cited
2006
Highly Cited
2006
Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans
N. Pellegata
,
L. Quintanilla‐Martinez
,
+6 authors
M. Atkinson
Proceedings of the National Academy of Sciences…
2006
Corpus ID: 2551556
MENX is a recessive multiple endocrine neoplasia-like syndrome in the rat. The tumor spectrum in MENX overlaps those of human…
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Highly Cited
2003
Highly Cited
2003
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
O. Sieber
,
L. Lipton
,
+9 authors
I. Tomlinson
New England Journal of Medicine
2003
Corpus ID: 20592897
BACKGROUND Germ-line mutations in the base-excision-repair gene MYH have been associated with recessive inheritance of multiple…
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Highly Cited
2003
Highly Cited
2003
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.
A. Antoniou
,
P. Pharoah
,
+30 authors
D. Easton
American Journal of Human Genetics
2003
Corpus ID: 34521425
Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is…
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Highly Cited
2003
Highly Cited
2003
Human Gene Mutation Database (HGMD®): 2003 update
P. Stenson
,
E. Ball
,
+6 authors
D. Cooper
Human Mutation
2003
Corpus ID: 19822396
The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ‐line mutations in nuclear…
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Highly Cited
2003
Highly Cited
2003
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.
T. Shattuck
,
S. Välimäki
,
+10 authors
A. Arnold
New England Journal of Medicine
2003
Corpus ID: 23040588
BACKGROUND We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma…
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Highly Cited
1997
Highly Cited
1997
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
D. Liaw
,
D. Marsh
,
+9 authors
R. Parsons
Nature Genetics
1997
Corpus ID: 33101761
Cowden disease (CD) is an autosomal dominant cancer predisposition syndrome associated with an elevated risk for tumours of the…
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Review
1996
Review
1996
Lessons from Hereditary Colorectal Cancer
K. Kinzler
,
B. Vogelstein
Cell
1996
Corpus ID: 18032613
Highly Cited
1995
Highly Cited
1995
Identification of the breast cancer susceptibility gene BRCA2
R. Wooster
,
G. Bignell
,
+40 authors
M. Stratton
Nature
1995
Corpus ID: 4346791
IN Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer…
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Highly Cited
1994
Highly Cited
1994
Tumor spectrum analysis in p53-mutant mice
T. Jacks
,
L. Remington
,
+4 authors
R. Weinberg
Current Biology
1994
Corpus ID: 28304530
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