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Hereditary gynaecologic cancers in Nepal: a proposed model of care to serve high risk populations in developing countries
ConclusionWomen in Nepal have yet to receive benefits from the advances in early cancer diagnosis and management. There is a potential of extending the benefits of hereditary cancer diagnosis in Nepal due to the rapid fall in the cost of genetic testing and the ability to collect DNA from a buccal swab through appropriate training of the gynaecological carers. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 18, 2017 Category: Cancer & Oncology Source Type: research

Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis
ConclusionsOur study demonstrates that knowledge ofBRCA mutation status impacts surgical decision making in favor of bilateral mastectomy in patients who are aware of their results prior to index surgery. This finding supports the practice of preoperative genetic testing in patients with newly diagnosed breast cancer. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 26, 2017 Category: Cancer & Oncology Source Type: research

Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1
ConclusionsAge-related penetrance and variable expressivity are well documented in families with MEN1. It is thought that nearly all individuals with MEN1 manifest disease by age 40. We present a case of late-onset MEN1 in the absence of the most common feature, primary hyperparathyroidism, but with the presence of a pNET and cutaneous findings. This family expands the phenotype associated with the c.1A  >  G pathogenic variant and highlights the importance of providing comprehensive assessment ofMEN1 mutation carriers in families that at first blush may appear to have isolated hyperparathyroidism. (Source: Hereditary...
Source: Hereditary Cancer in Clinical Practice - July 21, 2017 Category: Cancer & Oncology Source Type: research

Hereditary pancreatic cancer: related syndromes and clinical perspective
AbstractPancreatic cancer is a very aggressive disease with a poor prognosis. The majority of them are attributed to sporadic causes, especially to many modifiable risk factors such as tobacco or alcohol abuse. The principal histologic subtype of pancreatic cancer is ductal adenocarcinoma. Pancreatic neuroendocrine tumors, which constitute a more indolent entity, represent second type of pancreatic cancer in terms of incidence. Individuals with a family history of pancreatic cancer carry an increased risk of developing the disease, which may be related to an underlying hereditary component. Unfortunately, in the majority o...
Source: Hereditary Cancer in Clinical Practice - June 28, 2017 Category: Cancer & Oncology Source Type: research

ARLTS1 polymorphism is associated with an increased risk of familial cancer: evidence from a meta-analysis
AbstractAdenosine diphosphate (ADP)-ribosylation factor-like tumour suppressor gene 1(ARLTS1) might be associated with an increased risk of several types of familial cancers. However, previous studies have shown that cancer susceptibility is not completely consistent withARLTS1 polymorphisms, and the precise mechanism remains unknown. Therefore, we conducted a meta-analysis of case-control studies by searching the PubMed, Embase, OVID, Science Direct and Chinese National Knowledge Infrastructure (CNKI) databases. In total, 12 studies met the inclusion criteria and were included in this meta-analysis. Statistical analyses w...
Source: Hereditary Cancer in Clinical Practice - June 13, 2017 Category: Cancer & Oncology Source Type: research

Hereditary and non-hereditary branches of family eligible for BRCA test: cancers in other sites
ConclusionsMembers belonging to the H-branch of families of patients eligible to BRCA test have a higher risk of tumors in lung, larynx and liver. Clinicians should consider the increased risk for these cancers to activate prevention/early diagnosis practices in members of families with breast/ovarian familial cancer syndrome. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 25, 2017 Category: Cancer & Oncology Source Type: research

A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma
ConclusionSquamous cell carcinomas have been described in Lynch syndrome and Muir-Torre syndrome in two studies and two case reports. This new case further supports a possible relationship between Lynch syndrome and squamous cell carcinoma. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 12, 2017 Category: Cancer & Oncology Source Type: research

The genetic basis of colonic adenomatous polyposis syndromes
AbstractColorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial adenomatous polyposis (FAP) – classic FAP and attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP) and polymerase proofreading-associated polyposis (PPAP). The polyposis syndromes genetics and clinical manifestation of disease varies and cases with clinical diag nosis of FAP might molecularly show a different diagnosis.This review e...
Source: Hereditary Cancer in Clinical Practice - March 15, 2017 Category: Cancer & Oncology Source Type: research

Screening with magnetic resonance imaging, mammography and ultrasound in women at average and intermediate risk of breast cancer
ConclusionsIn terms of sensitivity, MRI is slightly better than the combination of mammography and ultrasound for screening of women at average or intermediate risk of breast cancer. However, because of additional costs incurred by MRI screening, and the small gain in sensitivity, MRI screening is probably not warranted outside of high-risk populations. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 28, 2017 Category: Cancer & Oncology Source Type: research

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines
AbstractHereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the incidence of hereditary cancers is low, patients diagnosed with hereditary cancer syndromes are at high-risk for developing secondary cancers. Furthermore, the productivity loss that occurs after cancer diagnosis in these high-risk ...
Source: Hereditary Cancer in Clinical Practice - January 20, 2017 Category: Cancer & Oncology Source Type: research

Anxiety and depression symptoms among women attending group-based patient education courses for hereditary breast and ovarian cancer
ConclusionThe women in this study seemed to benefit from the GPE course. Women newly diagnosed with aBRCA mutation who reported lower levels of self-efficacy and lower levels of education were more vulnerable. These women need special attention. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 10, 2017 Category: Cancer & Oncology Source Type: research

How does genetic risk information for Lynch syndrome translate to risk management behaviours?
ConclusionNon-carriers and female carriers of Lynch syndrome could benefit from further clarity and advice about appropriate risk management options. For those carriers who did not adhere to colonoscopy screening, a lack of faith in both genetic test results and screening were evident. It is essential that consistent advice is offered to both carriers and non-carriers of Lynch syndrome. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 4, 2017 Category: Cancer & Oncology Source Type: research

Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study
ConclusionWe report the first study exploring neuropsychological, behavioral, emotional, and structural brain characteristics of patients with FAP and found subjective differences as assessed by maternal perception in behavioral and emotional characteristics in patients with FAP compared to their siblings. Larger studies are needed to elucidate the relationship, if any, between FAP and brain function. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 9, 2016 Category: Cancer & Oncology Source Type: research

Prevalence of the CHEK2 R95* germline mutation
ConclusionWe provide proof-of-concept that previously unknownCHEK2 germline mutations may be present in certain populations. Notably, germline mutations in tumours are in general missed by contemporary massive parallel sequencing strategies, since tumour mutations are usually filtered against the germline. The fact that theCHEK2 R95* mutation may be associated with resistance to anthracyclines in cancer patients emphasizes its possible clinical importance. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 26, 2016 Category: Cancer & Oncology Source Type: research

Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer
ConclusionsThe present report finds out two unpublished sequence alterations in exon 11 of theMSH2 gene, one on which can be considered causative of Lynch phenotype. Moreover, it stresses the importance of the multidisciplinary onco-genetic counselling in order to correctly frame the hereditary syndrome, suggest the right genetic test, and offer the most appropriate management of the cancer risk for the patients and her family members. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 5, 2016 Category: Cancer & Oncology Source Type: research