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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
TLDR
To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location, a large cohort study recruited in 1997-2011 provides estimates of cancer risk based on BRCA1 and BRCa2 mutation carrier status. Expand
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
TLDR
It is demonstrated that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to bIALlelic BRCA2 mutations, confer a high risk of childhood cancer. Expand
Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study.
TLDR
The study suggests that olaparib is a promising treatment for women with ovarian cancer and further assessment of the drug in clinical trials is needed. Expand
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
TLDR
The updated guidelines include revised CDH1 testing criteria, which could be considered in patients with bilateral or familial LBC before the age of 50, patients with DGC and cleft lip/palate, and those with precursor lesions for signet ring cell carcinoma. Expand
Disruption of the Fanconi anemia–BRCA pathway in cisplatin-sensitive ovarian tumors
TLDR
A model for ovarian tumor progression is proposed in which the initial methylation of FANCF is followed by FancF demethylation and ultimately results in cisplatin resistance. Expand
Gene-panel sequencing and the prediction of breast-cancer risk.
An international group of cancer geneticists review the level of evidence for the association of gene variants with the risk of breast cancer. It is difficult to draw firm conclusions from the dataExpand
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
TLDR
Prospective risk estimates for breast cancer, ovarian cancer, and contralateral breast cancer in a prospective series of mutation carriers confirm findings from retrospective studies that common breast cancer susceptibility alleles in combination are predictive of breast cancer risk for BRCA2 carriers. Expand
Use of immunohistochemical markers can refine prognosis in triple negative breast cancer
TLDR
The findings suggests that CK5/6 and/or EGFR expressing tumor types have a persistently poorer prognosis over the longer term, an observation that may have important therapeutic implications as drugs that target the EGFR are currently being evaluated in breast cancer. Expand
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.
TLDR
It is confirmed that BRCA1/2 mutations confer a more aggressive PCa phenotype with a higher probability of nodal involvement and distant metastasis and this should be considered for tailoring clinical management of these patients. Expand
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
TLDR
Recurrent CDH1 mutations in families with hereditary diffuse gastric cancer are due to both independent mutational events and common ancestry, and the presence of a founder mutation from Newfoundland is strongly supported. Expand
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