- Hereditary Cancer in Clinical Practice 2020 18:2
Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53
The current guidelines in Sweden regarding individuals with a clinically actionable (i.e. pathogenic or likely pathogenic) germline TP53 variant recommend patients to take part of the national Swedish P53 Study (...Hereditary Cancer in Clinical Practice 2020 18:1Serum selenium level and cancer risk: a nested case-control study
Epidemiologic studies have demonstrated a relationship between selenium status and cancer risk among those with low selenium levels. It is of interest to prospectively evaluate the relationship between seleniu...Hereditary Cancer in Clinical Practice 2019 17:33Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences
Genetic testing for hereditary cancer syndromes has been revolutionized by next-generation sequencing, which allows for simultaneous review of numerous genes. Multigene panels are regularly offered to patients...Hereditary Cancer in Clinical Practice 2019 17:32Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study
Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This study assesses trends in diagnosis of LS and adherence to recommended LS-related care in a large integrated healthcare o...Hereditary Cancer in Clinical Practice 2019 17:31Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program
Pancreatic cancer (PC) is an aggressive disease with a dismal 5-year survival rate. Surveillance of high-risk individuals is hoped to improve survival outcomes by detection of precursor lesions or early-stage ...Hereditary Cancer in Clinical Practice 2019 17:30Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients
Pathogenic germline variants in MLH1, MSH2 and MSH6 genes account for the majority of Lynch syndrome (LS). In this first report from Pakistan, we investigated the prevalence of pathogenic MLH1/MSH2/MSH6 variants ...Hereditary Cancer in Clinical Practice 2019 17:29Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
We previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 ye...Hereditary Cancer in Clinical Practice 2019 17:28Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study
Pathogenic germline mutations in BRCA1 and BRCA2 (BRCA1/2) account for the majority of hereditary breast and/or ovarian cancers worldwide. To refine the spectrum of BRCA1/2 mutations and to accurately estimate th...Hereditary Cancer in Clinical Practice 2019 17:27A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China
Little is known about the status of genetic counseling for ovarian cancer in China.Hereditary Cancer in Clinical Practice 2019 17:26Outcomes of screening and surveillance in people with two parents affected by colorectal cancers: experiences from the Familial Bowel Cancer Service
The Familial Bowel Cancer Service at The Royal Melbourne Hospital was started in 1980 in order to offer bowel cancer screening services to those felt to be at a higher risk of CRC due to their family history, ...Hereditary Cancer in Clinical Practice 2019 17:25Patient-physician relationships, health self-efficacy, and gynecologic cancer screening among women with Lynch syndrome
Lynch syndrome, a hereditary cancer syndrome, predisposes women to colorectal, endometrial, and ovarian cancer. Current guidelines recommend that women with Lynch syndrome undergo risk-reducing gynecological s...Hereditary Cancer in Clinical Practice 2019 17:24Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report
Gastrointestinal stromal tumors (GISTs) represent the most frequent mesenchymal tumor of the gastrointestinal tract. Less than 5% of them seem to be hereditary, being succinate dehydrogenase complex (SDHx) defici...Hereditary Cancer in Clinical Practice 2019 17:23A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome. Affected patients develop central nervous system hemangioblastomas and abdominal tumors, among other lesions. Patients under...Hereditary Cancer in Clinical Practice 2019 17:22Somatic variants of potential clinical significance in the tumors of BRCA phenocopies
BRCA phenocopies are individuals with the same phenotype (i.e. cancer consistent with Hereditary Breast and Ovarian Cancer syndrome = HBOC) as their affected relatives, but not the same genotype as assessed by bl...Hereditary Cancer in Clinical Practice 2019 17:21Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia
The main risk factor for familial breast cancer is the presence of mutations in BRCA1 and BRCA2 genes. The prevalence of mutations in these genes is heterogeneous and varies according to geographical origin of...Hereditary Cancer in Clinical Practice 2019 17:20Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
Genes in the homologous recombination pathway have shown varying results in the literature regarding ovarian cancer (OC) association. Recent case-control studies have used allele counts alone to quantify genet...Hereditary Cancer in Clinical Practice 2019 17:19Colorectal carcinoma in the course of inflammatory bowel diseases
Colorectal cancer (CRC) and inflammatory bowel disease (IBD) are the most prevalent diseases of the digestive system, and their association is unequivocal. A long-standing inflammatory process is one of the ca...Hereditary Cancer in Clinical Practice 2019 17:18- Hereditary Cancer in Clinical Practice 2019 17(Suppl 2):15This article is part of a Supplement: Volume 17 Supplement 2
Allelic variants of breast cancer susceptibility genes PALB2 and RECQL in the Latvian population
Large-scale case control studies revealed a number of moderate risk - low frequency breast cancer alleles of the PALB2 and RECQL genes. Some of these were reported as founder variants of Central and Eastern Europ...Hereditary Cancer in Clinical Practice 2019 17:17Examining intrafamilial communication of colorectal cancer risk status to family members and kin responses to colonoscopy: a qualitative study
First-degree relatives (FDRs) of probands with colorectal cancer (CRC) may be at increased risk of CRC and require colonoscopy. Proband disclosure about this risk and need for colonoscopy is essential for FDRs...Hereditary Cancer in Clinical Practice 2019 17:16Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations
Pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Screening of these genes has become easily accessible in diagnostic laboratories. Sequencing and copy number analyses are used to...Hereditary Cancer in Clinical Practice 2019 17:14Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?
Inguinal metastasis of endometrial cancer (EC) is rare. The aims of the study were to identify whether the inguinal metastatic tumor was originated from EC and to present the management of the disease.Hereditary Cancer in Clinical Practice 2019 17:13Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature
Neurofibromatosis type 1 (NF1) is a cancer predisposing syndrome. Studies suggest that women < 50 years old (y.o.) with NF1 have an increased breast cancer (BC) incidence and BC associated mortality. However, ...Hereditary Cancer in Clinical Practice 2019 17:12The effect of neoadjuvant platinum-based chemotherapy in BRCA mutated triple negative breast cancers -systematic review and meta-analysis
Triple negative breast cancers (TNBC) are associated with an aggressive clinical course, earlier recurrence and short survival. BRCA – mutated tumours represent up to 25% of all TNBC. BRCA status is being studied...Hereditary Cancer in Clinical Practice 2019 17:11Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy
Since more than two decades Risk-reducing salpingo-oophorectomy (RRSO) is recommended and widely accepted by BRCA1/2 carriers as a method reducing ovarian cancer risk and improving survival rate. After RRSO, t...Hereditary Cancer in Clinical Practice 2019 17:10Single-center study of Lynch syndrome screening in colorectal polyps
Lynch syndrome is the most common hereditary colorectal cancer syndrome, and adenoma is one of the important premalignant lesions to colorectal cancer in Lynch syndrome. The first objective of this study was t...Hereditary Cancer in Clinical Practice 2019 17:9Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in expert centres. Thi...Hereditary Cancer in Clinical Practice 2019 17:8BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer
In families with high risk of hereditary breast/ovarian cancer (HBOC), women before age 30 do not yet undergo clinical screening, but they are exposed to contradictory information from diverse sources. They ma...Hereditary Cancer in Clinical Practice 2019 17:7- Hereditary Cancer in Clinical Practice 2019 17(Suppl 1):101This article is part of a Supplement: Volume 17 Supplement 1
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes
In a considerable number of patients with a suspected hereditary tumor syndrome (HTS), no underlying germline mutation is detected in the most likely affected genes. The present study aimed to establish and va...Hereditary Cancer in Clinical Practice 2019 17:5BRCA mutation screening and patterns among high-risk Lebanese subjects
Previous studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than Eu...Hereditary Cancer in Clinical Practice 2019 17:4Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)
Approximately 5 to 10% of all cancers are caused by inherited germline mutations, many of which are associated with different Hereditary Cancer Syndromes (HCS). In the context of the Program of Hereditary Canc...Hereditary Cancer in Clinical Practice 2019 17:3Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes
The number of individuals meeting criteria for genetic counseling and testing for hereditary cancer syndromes (HCS) is far less than the number that actually receive it. To facilitate identification of patient...Hereditary Cancer in Clinical Practice 2019 17:2The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans
As a large-scale study of Koreans, we evaluated the association between BRCA mutation and the prevalence of non-breast and ovary cancers in first- and second-degree relatives of high-risk breast cancer patients.Hereditary Cancer in Clinical Practice 2019 17:1German National Case Collection for familial pancreatic Cancer (FaPaCa) - acceptance and psychological aspects of a pancreatic cancer screening program
Pancreatic cancer screening is recommended to individuals at risk (IAR) of familial pancreatic cancer (FPC) families, but little is known about the acceptance of such screening programs. Thus, the acceptance a...Hereditary Cancer in Clinical Practice 2018 16:17A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families
Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes MLH1, MSH2, MSH6 or PMS2. Carriers are predisposed to colorectal and e...Hereditary Cancer in Clinical Practice 2018 16:16Polyglobulia in patients with hemangioblastomas is related to tumor size but not to serum erythropoietin
Hemangioblastomas are associated with elevated hemoglobin (Hb) levels (polyglobulia), which is associated with a higher risk for cerebral stroke, cardiac infarction and pulmonary embolism. The pathomechanism o...Hereditary Cancer in Clinical Practice 2018 16:15CD36 – a plausible modifier of disease phenotype in familial adenomatous polyposis
Familial adenomatous polyposis (FAP) is a well characterised genetic predisposition to early onset colorectal cancer (CRC) that is characterised by polyposis of the colon and rectum. Animal models have consist...Hereditary Cancer in Clinical Practice 2018 16:14A qualitative study of barriers to genetic counseling and potential for mobile technology education among women with ovarian cancer
National guidelines recommend genetic counseling for all ovarian cancer patients because up to 20% of ovarian cancers are thought to be due to hereditary cancer syndromes and effective cancer screening and pre...Hereditary Cancer in Clinical Practice 2018 16:13High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population
Pathogenic BRCA1 founder mutations (c.4035delA, c.5266dupC) contribute to 3.77% of all consecutive primary breast cancers and 9.9% of all consecutive primary ovarian cancers. Identifying germline pathogenic gene ...Hereditary Cancer in Clinical Practice 2018 16:12Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews
Patients with a genetic variant associated with Lynch syndrome (LS) are recommended to undergo frequent and repeated cancer surveillance activities to minimize cancer-related morbidity and mortality. Little is...Hereditary Cancer in Clinical Practice 2018 16:11Retraction Note to: The BRCA2 variant c.68–7 T > A is associated with breast cancer
This article [1] has been retracted at the request of the authors. Upon re-review of the data, the authors identified coding errors in this study.Hereditary Cancer in Clinical Practice 2018 16:10The original article was published in Hereditary Cancer in Clinical Practice 2017 15:20Platinum-based neoadjuvant chemotherapy in BRCA1-positive breast cancer: a retrospective cohort analysis and literature review
There is increasing evidence of high platinum sensitivity in BRCA-associated breast cancer. However, evidence from randomized trials is lacking. The aim of this study was to analyze the results of platinum-based ...Hereditary Cancer in Clinical Practice 2018 16:9Challenges in recruiting African-American women for a breast cancer genetics study
African-American women, especially in the southern United States, are underrepresented in cancer genetics research. A study was designed to address this issue by investigating the germline mutation rate in Afr...Hereditary Cancer in Clinical Practice 2018 16:8CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome
Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria fo...Hereditary Cancer in Clinical Practice 2018 16:7- Hereditary Cancer in Clinical Practice 2018 16(Suppl 1):5This article is part of a Supplement: Volume 16 Supplement 1
Frequency of BRCA1 and BRCA2 causative founder variants in ovarian cancer patients in South-East Poland
Causative variants in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the BRCA1 are responsible for a significant proportion of ovaria...Hereditary Cancer in Clinical Practice 2018 16:6Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional genetic variants, whic...Hereditary Cancer in Clinical Practice 2018 16:4BRCA1 and BRCA2 mutation spectrum – an update on mutation distribution in a large cancer genetics clinic in Norway
Founder mutations in the two breast cancer genes, BRCA1 and BRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients ...Hereditary Cancer in Clinical Practice 2018 16:3
Aporte a la rutina de la trinchera asistencial donde los conocimientos se funden con las demandas de los pacientes, sus necesidades y las esperanzas de permanecer en la gracia de la SALUD.
viernes, 31 de enero de 2020
Hereditary Cancer in Clinical Practice | Articles
Hereditary Cancer in Clinical Practice | Articles
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