Hereditary Cancer in Clinical Practice This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Genetic susceptibility to hereditary non-medullary thyroid cancer
AbstractNon-medullary thyroid cancer (NMTC) is the most common type of thyroid cancer. With the increasing incidence of NMTC in recent years, the familial form of the disease has also become more common than previously reported, accounting for 5 –15% of NMTC cases. Familial NMTC is further classified as non-syndromic and the less common syndromic FNMTC. Although syndromic NMTC has well-known genetic risk factors, the gene(s) responsible for the vast majority of non-syndromic FNMTC cases are yet to be identified. To date, several candidate genes have been identified as susceptibility genes in hereditary NMTC. This review ...
Source: Hereditary Cancer in Clinical Practice - March 7, 2022 Category: Cancer & Oncology Source Type: research

Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors
ConclusionsThis newly identified germline variant could improve the identification of clinical phenotypes and the early diagnosis of MEN1. Clinician should consider the present of situation that intron variant causing detection error. Re-designing the primers close to the variant site for gene detection could avoid this situation. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 7, 2022 Category: Cancer & Oncology Source Type: research

Women ’s perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform
ConclusionsAn informative breast cancer risk stratification e-platform targeting healthy women in the general population can significantly  increase knowledge as well as support decisions around breast cancer risk and assessment. Currently underway, Phase 2, called PERSPECTIVE, is seeking further content integration and broader implementation . (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 24, 2022 Category: Cancer & Oncology Source Type: research

Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system
ConclusionsProcess improvements are needed to increase access to genetic services to diagnose hereditary cancer syndromes prior to development of cancer. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 10, 2022 Category: Cancer & Oncology Source Type: research

“It was an important part of my treatment”: a qualitative study of Norwegian breast Cancer patients’ experiences with mainstreamed genetic testing
ConclusionsDespite the shock of their diagnosis and the varying experiences they had in respect of how and when testing was offered, all of the participants emphasised that genetic testing had been an important part of their diagnosis and treatment. Our results indicate that there is a need for continuous collaboration between geneticists, surgeons, oncologists and laboratory specialists in order to establish simple and robust routines so as to ensure that all eligible breast cancer patients are offered testing at a point when the test result can have an impact on treatment. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 5, 2022 Category: Cancer & Oncology Source Type: research

CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?
In conclusion, there is insufficient evidence to warrant systematic thyroid screening in CHEK2 carriers. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 31, 2022 Category: Cancer & Oncology Source Type: research

Progress of HOTAIR-microRNA in hepatocellular carcinoma
AbstractThe Hox transcript antisense intergenic RNA (HOTAIR) has been identified as a tumor gene, and its expression in HCC is significantly increased. HOTAIR is associated with the proliferation, invasion, metastasis and poor prognosis of HCC. In addition, HOTAIR can also regulate the expression and function of microRNA by recruiting the polycomb repressive complex 2 (PRC2) and competitive adsorption, thus promoting the occurrence and development of HCC. In this review, we discussed the two mechanisms of HOTAIR regulating miRNA through direct binding miRNA and indirect regulation, and emphasized the role of HOTAIR in HCC ...
Source: Hereditary Cancer in Clinical Practice - January 29, 2022 Category: Cancer & Oncology Source Type: research

Pregnancy after breast cancer in BRCA1/2 mutation carriers
ConclusionAccording to the existing literature evidence pregnancy after therapy for breast cancer inBRCA carriers is safe for the mother and offspring, but patients ’ needs, oncofertility counseling and fertility-sparing strategy should be carefully planned before starting the cytotoxic treatment. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 21, 2022 Category: Cancer & Oncology Source Type: research

Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
ConclusionsWe demonstrated a high rate of mutation detection in the heterogeneous population of Israel. Patients from NRFSU with BMPR1A mutation had high rate of gastric involvement. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 20, 2022 Category: Cancer & Oncology Source Type: research

Germline HOXB13 mutation p.G84E do not confer an increased bladder or kidney cancer risk in polish population
ConclusionHOXB13 mutation was not associated with bladder or kidney cancer. Mutation p.G84E inHOXB13 seem not to play a role in bladder and kidney cancer development in Polish patients. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 4, 2022 Category: Cancer & Oncology Source Type: research

Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients
ConclusionsTP53 germline mutation screening detects a clinically meaningful risk of early onset BC from this ethnicity and should be considered in all early onset BC regardless of the family history of cancer, especially in young patients that are negative forBRCA mutations. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - December 14, 2021 Category: Cancer & Oncology Source Type: research

Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A   & gt;  T: a case report
ConclusionsWe present the findings of a case of leiomyosarcoma in the peritoneum of a female patient with a novel germline splicing variant ofRAD51D as potential evidence for the pathogenicity of the variant and its involvement in the risk of sarcoma etiology and/or development. To the best of our knowledge, this is the first case report describing a leiomyosarcoma carrying a germlineRAD51D splicing variant and elucidating its pathogenicity on the basis of computational prediction of the impairment of normal transcription and the presumed loss of functional protein production. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 27, 2021 Category: Cancer & Oncology Source Type: research

Correction to: Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 16, 2021 Category: Cancer & Oncology Source Type: research

Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis
AbstractMultiple primary cancers, defined as three or more primary tumours, are rare, and there are few genetic studies concerning them. There is a need for increased knowledge on the heritability of multiple primary cancers and genotype-phenotype correlations. We have performed whole-genome/exome sequencing (WGS/WES) in ten individuals with three or more primary tumours, with no previous findings on standard clinical genetic investigations. In one individual with a clinical diagnosis of MEN1, a likely pathogenic cryptic splice site variant was detected in theMEN1 gene. The variant (c.654C  >  A) is synonymous but w...
Source: Hereditary Cancer in Clinical Practice - October 28, 2021 Category: Cancer & Oncology Source Type: research

Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review
AbstractBackground and aimThe BRCA 1 and BRCA 2 genes are associated with an inherited susceptibility to breast cancer with a cumulative risk of 60% in BRCA 1 mutation carriers and of 30% in BRCA 2 mutation carriers. Several lifestyle factors could play a role in determining an individual ’s risk of breast cancer. Obesity, changes in body size or unhealthy lifestyle habits such as smoking, alcohol consumption and physical inactivity have been evaluated as possible determinants of breast cancer risk. The aim of this study was to explore the current understanding of the role of harmf ul lifestyle and obesity or weight chan...
Source: Hereditary Cancer in Clinical Practice - October 27, 2021 Category: Cancer & Oncology Source Type: research