Hereditary Breast and Ovarian Cancer (HBOC) syndrome is an autosomal dominant disease associated with a high risk of developing breast, ovarian, other malignancies. Lynch caused by mutations in mismatch repair genes predisposing to colorectal endometrial cancers, among others. A rare phenotype overlapping hereditary breast cancer syndromes poorly characterized. Three unrelated patients fulfilli...

PURPOSE/OBJECTIVES To explore how women with a hereditary risk of breast cancer experience living with and managing that risk through surveillance. RESEARCH APPROACH Hermeneutic phenomenology guided the qualitative research design. SETTING The Facing Our Risk of Cancer Empowered online organization. PARTICIPANTS 9 women undergoing breast surveillance for hereditary breast cancer risk recr...

The term “hereditary cancer” refers to cancers associated with specific germ-line mutations in highly penetrant genes which are inherited as a Mendelian trait, whether through an oncogene, a tumor suppressor gene, or a DNA repair gene. Since the first association between germ-line mutations and hereditary predisposition for particular cancer types has been found in the mid of 90-ties, investiga...

BACKGROUND Approximately 5-10% of breast cancers are hereditary. Among hereditary syndromes, Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Li-Fraumeni Syndrome (LFS) have received the most attention. HBOC is due to mutations in the BRCA1 and BRCA2 genes and is characterized by breast adenocarcinoma and/or epithelial ovarian carcinoma. LFS is associated with germline mutations in TP53...

Breast cancer family history has been known to be one of the main cancer risk factors. Members of high-risk families should be given recommendations which may improve prophylaxis, early diagnosis and treatment. Detection of high-risk families is possible by identification of mutations in cancer susceptibility genes like BRCA1 and BRCA2 as well as by family history showing breast and/or ovary ca...

Serbia and Montenegro is the most recent country to have joined the European integration processes in the Western Balkan region. War has troubled this country for more than ten recent years. Postwar conditions have been as severe as those during the war and include poverty and a lack of new, highly sophisticated technologies and trained professionals as well as appropriate organisation of the h...

Most efforts to identify individuals who have a hereditary predisposition for developing breast cancer had focused on the BRCA1 and BRCA2 genes. Less common susceptibility genes also are associated with increased risk for developing breast cancer, but until recently have often gone undetected. With the advent of next generation sequencing (NGS), many families with suspected hereditary risk are ...

The American Society of Clinical Oncology has affirmed the role of clinical oncologists in identifying and managing patients with familial cancer risk. Inherited mutations in the genes BRCA1 and BRCA2 are responsible for the majority of hereditary breast and ovarian cancers, and these mutations also increase the risk of second cancers in women already diagnosed with breast malignancy. Understan...