ArticleFamilial cancer2010
PALB2: a novel inactivating mutation in a Italian breast cancer family.
Article in Familial cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 31 citations in OpenAlex.
- Harnessing Epigenetics for Breast Cancer Therapy: The Role of DNA Methylation, Histone Modifications, and MicroRNA.International journal of molecular sciences · 2023Review
- Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey.Molecular biology reports · 2016Article
- Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation.Familial cancer · 2015Article
- Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.Breast cancer research : BCR · 2015Article
- Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.BMC cancer · 2015Article
- Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.Oncogene · 2014Article
- Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe.Familial cancer · 2014Article
- Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.Hereditary cancer in clinical practice · 2014Article
- PALB2 and breast cancer: ready for clinical translation!The application of clinical genetics · 2013Article
- Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.PloS one · 2013Article
- Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.Familial cancer · 2012Article
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- PALB2 mutations in German and Russian patients with bilateral breast cancer.Breast cancer research and treatment · 2011Article
- Germline mutations in PALB2 in African-American breast cancer cases.Breast cancer research and treatment · 2011Article
- Inherited and acquired alterations in development of breast cancer.The application of clinical genetics · 2011Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare germline monoallelic mutations in PALB2 confer a relative risk of breast cancer of 2 to 4-times. To better define the role of PALB2 in breast cancer susceptibility in Italian breast or breast-ovarian cancer families we screened 95 index cases negative for BRCA1/BRCA2 germline mutations. The mutational analysis of the PALB2 gene in a index case of an high risk breast cancer family, has identified a frameshift mutation (c.1517delG) in the exon 4 that leads to the formation of a stop codon, 12 residues downstream of the mutation (Leu451X). The mutation was identified in a woman 52 year old with an infiltrating ductal breast carcinoma and in two of the three sisters without breast cancer. Our results confirmed that PALB2 could be a susceptibility gene for familial breast cancer also in Italian population.
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