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A case of hereditary breast and ovarian cancer syndrome of initially presented as cancer of unknown primary with lymph node metastases unveiled by genetic analysis
Cancer of unknown primary (CUP) is a heterogeneous disease concept involving various malignant tumors. Understanding its pathophysiology is often...
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Hereditary breast and ovarian cancer triggered by occult fallopian tube cancer: a case report
BackgroundAt the time of benign gynecological surgery, a prophylactic sal**o-oophorectomy or sal**ectomy is increasingly being performed...
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Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases
PurposeTo define the spectrum of germline pathogenic variants (PVs) and copy number variant (CNV) in cancer susceptibility genes to the burden of...
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Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario
BackgroundA detailed understanding of the genetic basis of cancer is of great interest to public health monitoring programs. Although many studies...
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Hereditary Breast Cancer, Genetics, and Fertility Preservation
Purpose of ReviewFertility preservation is an important consideration in patients with hereditary breast cancer. Breast cancer mutation carriers may...
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Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center
PurposeHereditary breast and ovarian cancer has long been established to affect a considerable number of patients and their families. By identifying...
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Hereditary cancer testing in a diverse sample across three breast imaging centers
PurposeUp to 10% of all breast cancers (BC) are attributed to inherited pathogenic variants (PV) in BC susceptibility genes; however, most carriers...
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Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report
Hereditary breast and ovarian cancer (HBOC) syndrome has increased predisposition to breast and/or ovarian cancer, and 24% of families with HBOC were...
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Uptake of screening and risk-reducing recommendations among women with hereditary breast and ovarian cancer syndrome due to pathogenic BRCA1/2 variants evaluated at a large urban comprehensive cancer center
PurposeCarriers of pathogenic variants in BRCA1 /2 have an elevated lifetime cancer risk warranting high-risk screening and risk-reducing procedures...
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Methylation marks in blood DNA reveal breast cancer risk in patients fulfilling hereditary disease criteria
Less than 15–20% of patients who meet the criteria for hereditary breast and ovarian cancer (HBOC) carry pathogenic coding genetic mutations,...
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Hereditary ovarian cancer risk reduction: a retrospective evaluation of patient perspectives and service provision at a regional hereditary gynaecologic cancer clinic 2006–2016
BackgroundGermline pathogenic variants in BRCA1/2 have been established in hereditary breast and ovarian cancer (HBOC) syndrome and result in...
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Cancer Screening Experiences of Black Breast and Ovarian Cancer Patients and Family Members
Black women experience disproportionate rates of advanced breast cancer diagnoses and mortality. Mammography is a proven and effective tool in early...
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Germline variant of BRCA1 c.5332G>A has clinical features of hereditary breast and ovarian cancer syndrome
The proband was a 39-year-old Japanese woman with stage I triple negative breast cancer. Germline BRCA1 and BRCA2 genetic testing revealed the...
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Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region
PurposeBreast cancer (BC) is the most common form of female cancer around the world. BC is mostly sporadic, and rarely hereditary. These hereditary...
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PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review
BackgroundPTEN hamartoma tumour syndrome (PHTS) is a rare hereditary disorder caused by germline pathogenic mutations in the PTEN gene. This study...
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Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan
About 5–10% of all ovarian cancer cases show familial clustering, and some 15–25% of familial ovarian cancer cases are mediated by high-penetrance...
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A comprehensive study on surveillance outcomes of a male population followed at a hereditary breast cancer high-risk consultation at a Portuguese tertiary hospital
IntroductionMen born with pathogenic/likely pathogenic variants in genes associated with the Hereditary Breast and Ovarian Cancer Syndrome have a...
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Contraception as chemoprevention of ovarian cancer in BRCA1 and BRCA2 women
Ovarian cancer is the seventh most common cancer in women in the world, with an estimated worldwide mortality of over 207′000 women every year. This...
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Genetic Testing Among Patients with High-Risk Breast, Ovarian, Pancreatic, and Prostate Cancers
BackgroundThe National Comprehensive Cancer Network recommends genetic testing in patients with potentially hereditary breast, ovarian, pancreatic,...
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BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome
BAP1 cancer syndrome is a rare and highly penetrant hereditary cancer predisposition. Uveal melanoma, mesothelioma, renal cell carcinoma (RCC) and...
