BACKGROUND Hereditary triple-negative breast cancer patients have better recurrence-free survival than triple-negative sporadic ones. High expression of some of the miRNAs is related to worse overall and disease-free survival of triple-negative breast cancer patients. The attempt to associate expression level of some miRNA in triple-negative hereditary and sporadic breast cancers to disease spe...

PURPOSE/OBJECTIVES To investigate symptom-based cancer worry in women who are at hereditary risk for breast cancer, specifically levels of worry, correlations of cancer worry, perceived cancer risk, and clinical signs or symptoms of breast cancer, as well as predictors of cancer worry. DESIGN Cross-sectional, correlational. SETTING Primarily the United States. SAMPLE 200 women, aged 18-80...

PURPOSE This study sought to assess the prevalence of common germline mutations in several genes engaged in the repair of DNA double-strand break by homologous recombination in patients with triple-negative breast cancers and hereditary non-triple-negative breast cancers. Tumors deficient in this type of DNA damage repair are known to be especially sensitive to DNA cross-linking agents (e.g., p...

rophylactic risk-reducing surgery has been earlier suggested effective to improve survival in individuals selected on the basis of a strong family history. Now, genetic increasing the accuracy of cancer risk estimates allows surgery to target individuals with CDH1 or BRCA1/BRCA2 mutations who are at high risk of developing gastric cancer and breast cancer respectively. Here, we discuss the rein...

W.B.C. is Special Editor of the Breast Cancer Theme Issue. Personalized medicine, individualized medicine, and precision medicine are interchangeable terms that describe an approach to the treatment of disease that harnesses our understanding of the molecular basis and mechanisms of a given disease and matches appropriate therapeutic interventions. Breast cancer represents a diverse collection ...

Research in genetics has facilitated the identification of highly penetrant genes responsible for a large number of diseases. In the oncology field, genetic counselling and gene testing are focused on the two most common syndromes in familial cancer: hereditary breast and ovarian cancer syndrome (HBOC) and hereditary non-polyposis colorectal cancer or Lynch syndrome (LS). The objective of this ...

Familial breast cancer was first recognized in the Roman medical literature of 100 AD [1]. The first documentation of familial clustering of breast cancer in modern times was published by Broca, who reported 10 cases of breast cancer in 4 generations of his wife’s family [2]. In the middle of the nineteen nineties it was proven at the molecular level that a substantial number of breast and ovar...

In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive fa...

CONTEXT CHEK2 encodes a cell cycle checkpoint kinase that plays an important role in the DNA damage repair pathway, activated mainly by ATM (Ataxia Telangiectasia Mutated) in response to double-stranded DNA breaks. A germline mutation in CHEK2, 1100delC, has been described as a low penetrance allele in a significant number of families with breast and colorectal cancer in certain countries and i...

Breast cancer is the most frequent malignancy among women. Since genetic factors such as BRCA1 and BRCA2 as well as reproductive history constitute 30% of the cause, environmental exposure may play a significant role in the development of breast cancer. Likewise, the relevant enzymes involved in the biotransformation of xenobiotics (from tobacco smoke, diet or other environmental sources) might...