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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… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Fanconi anemia (FA) is a complex genetic disorder characterized by bone marrow failure (BMF), congenital defects, inability to… Expand
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Review
2019
Review
2019
BACKGROUND Patients with a germline BRCA1 or BRCA2 mutation make up a small subgroup of those with metastatic pancreatic cancer… Expand
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Review
2018
Review
2018
PurposeMale breast cancer (BC) is rare, representing approximately 1% of cancers that occur in men and approximately 1% of all… Expand
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Review
2015
Review
2015
OBJECTIVE Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are neural crest cell tumors associated with catecholamine… Expand
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Germ-line mutations in the base-excision-repair gene MYH have been associated with recessive inheritance of multiple… Expand
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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… Expand
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Highly Cited
2003
Highly Cited
2003
The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ‐line mutations in nuclear… Expand
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Highly Cited
1995
Highly Cited
1995
IN Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer… Expand
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Highly Cited
1994
Highly Cited
1994
BACKGROUND The p53 tumor suppressor gene is mutated in a large percentage of human malignancies, including tumors of the colon… Expand
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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… Expand
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