The “portrait” of hereditary breast cancer

@article{Lacroix2004TheO,
  title={The “portrait” of hereditary breast cancer},
  author={Marc Lacroix and Guy Leclercq},
  journal={Breast Cancer Research and Treatment},
  year={2004},
  volume={89},
  pages={297-304}
}
SummaryFive to ten per cent of all breast carcinomas are of hereditary origin. Many of them have been associated to mutations in the BRCA1 and BRCA2 susceptibility genes. No “BRCA3” gene has been found to account for the non-BRCA1/BRCA2 breast cancer (BRCAx) families, and BRCAx tumors are increasingly believed to originate from multiple distinct genetic events. Phenotype studies have questioned the existence of specific “portraits” among hereditary breast carcinomas (HBC). They have shown that… 
Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2
TLDR
Estimates of penetrance (cancer risk) vary considerably depending on the context in which they were derived and have been shown to vary within families with the same BRCA1/2 mutation, suggesting there is no exact risk estimate that can be applied to all individuals with a BRCa1/ 2 mutation.
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Current BRCA carrier status is not used as an independent prognostic factor regarding systemic treatment options for breast cancer management, and strategies have been developed for the medical management of women at high risk of developing breast cancer, including options for screening and prophylactic surgery.
Prevalence of BRCA1 and BRCA2 genomic rearrangements in a cohort of consecutive Italian breast and/or ovarian cancer families
TLDR
The results support the idea that search for BRCA1 rearrangements should be included in the genetic screening of even moderate risk breast/ovarian cancer families, and suggest BRCa2 rearrangement might be very rare out of the high risk families including a male breast cancer.
MicroRNA expression profiles in hereditary breast cancer
TLDR
The data suggest a role for BRCA1 in modulating a number of miRNAs and indirectly hundreds of genes, in turn promoting the repression of NF-?B and MAPK signaling pathways in breast cancer, implying a common pathway of tumor progression irrespective of the initiating events.
Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing
TLDR
A family with three affected sisters of early-onset invasive ductal carcinoma due to heterozygous frame shift mutation rs80359352 in BRCA2 gene as the first report in Iranian patients in association with a novel missense SNP of STK11 (p.S422G).
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