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UnknownUnexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.
Hereditary breast and ovarian cancer syndrome (HBOC) is a clinical entity characterized by an increased risk of developing breast and ovarian cancer. The genetic diagnosis is based on the identification of heterozygous germinal variants in HBOC susceptibility genes. However, it has recently been des...
S-EPMC9957471 | biostudies-literature
UnknownAnalysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

Background

The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of this study was to determine the prevalenc...
S-EPMC3720732 | biostudies-literature
GenomicsWhole exome sequencing suggests much of non BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.
Whole exome sequencing identification of putative founder mutations in non-BRCA1/2 breast cancer patients
ORGANISM(S): Homo sapiens 
2013-08-08 | E-MTAB-1172 | biostudies-arrayexpress
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