293 results match your criteria Hereditary Cancer in Clinical Practice [Journal]


Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hered Cancer Clin Pract 2019 23;17. Epub 2019 Jan 23.

1Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, D-53127 Bonn, Germany.

Background: 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 validate a large gene panel for HTS, and determine its diagnostic yield and clinical utility.

Methods: The study cohort comprised 173 patients with suspected, but unexplained, HTS (group U) and 64 HTS patients with a broad spectrum of known germline mutations (group K). Read More

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-018-0102-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343270PMC
January 2019
4 Reads

BRCA mutation screening and patterns among high-risk Lebanese subjects.

Hered Cancer Clin Pract 2019 18;17. Epub 2019 Jan 18.

2Division of Hematology-Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

Background: Previous studies have suggested that the prevalence of and mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and North American populations. We aimed at reviewing the rates and patterns of mutations found in individuals referred to the medical genetics unit at the American University of Beirut. We also evaluated the performance of clinical prediction tools. Read More

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0105-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339325PMC
January 2019
1 Read

Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).

Hered Cancer Clin Pract 2019 18;17. Epub 2019 Jan 18.

1Laboratory of Molecular Biology, Fundación Instituto Valenciano de Oncología, C/Prof. Beltrán Báguena, 8-11, 46009 Valencia, Spain.

Background: 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 Cancer of the Valencia Community, individuals belonging to specific HCS and their families receive genetic counselling and genetic testing according to internationally established guidelines. The current diagnostic approach is based on sequencing a few high-risk genes related to each HCS; however, this method is time-consuming, expensive and does not achieve a confirmatory genetic diagnosis in many cases. Read More

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0104-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339395PMC
January 2019
4 Reads

Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes.

Hered Cancer Clin Pract 2019 11;17. Epub 2019 Jan 11.

Counsyl, 180 Kimball Way, South San Francisco, CA 98040 USA.

Background: 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 patients at risk for HCS, Counsyl developed a digital identification tool (digital ID tool) to match personal and family cancer history to National Comprehensive Cancer Network (NCCN) BRCA-related Hereditary Breast and Ovarian Cancer (HBOC), Lynch syndrome, and polyposis testing criteria in one-to-one, automated fashion. The purpose of this study was to validate the ability of the digital ID tool to accurately identify histories that do and do not meet NCCN testing criteria. Read More

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http://dx.doi.org/10.1186/s13053-018-0099-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330430PMC
January 2019
1 Read

The 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.

Hered Cancer Clin Pract 2019 3;17. Epub 2019 Jan 3.

3Departments of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Background: 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.

Methods: We organized familial pedigrees of 2555 patients with breast cancer who underwent genetic screening for in Samsung Medical Center between January 2002 and May 2018. Families with a member that had a history of cancer other than of the breast or ovary were regarded positive for other primary cancer. Read More

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http://dx.doi.org/10.1186/s13053-018-0103-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318979PMC
January 2019
6 Reads

German National Case Collection for familial pancreatic Cancer (FaPaCa) - acceptance and psychological aspects of a pancreatic cancer screening program.

Hered Cancer Clin Pract 2018 29;16:17. Epub 2018 Nov 29.

1Department of Visceral-, Thoracic- and Vascular Surgery, National Case Collection for Familial Pancreatic Cancer (FaPaCa), Philipps-University Marburg, Baldingerstrasse, 35043 Marburg, Germany.

Background: 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 and psychological aspects of a controlled FPC screening program was evaluated.

Methods: IAR of FPC families underwent comprehensive counseling by a geneticist and pancreatologist prior to the proposed screening. Read More

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http://dx.doi.org/10.1186/s13053-018-0100-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267785PMC
November 2018
1 Read

A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families.

Hered Cancer Clin Pract 2018 23;16:16. Epub 2018 Oct 23.

2Department of Clinical Genetics, Karolinska University Hospital, Solna, 171 76 Stockholm, Sweden.

Background: Lynch Syndrome is an autosomal dominant cancer syndrome caused by pathogenic germ-line variants in one of the DNA-mismatch-repair (MMR) genes or . Carriers are predisposed to colorectal and endometrial cancer, but also other cancer types. The purpose of this retrospective study was to characterize the tumour spectrum of the Swedish Lynch syndrome families. Read More

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-018-0098-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199799PMC
October 2018
1 Read

Polyglobulia in patients with hemangioblastomas is related to tumor size but not to serum erythropoietin.

Hered Cancer Clin Pract 2018 11;16:15. Epub 2018 Sep 11.

1Department of Neurosurgery, Freiburg University Medical Center, Freiburg, Germany.

Background: 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 of polyglobulia remains unclear and different theories have been postulated. Among those are elevated serum erythropoietin (EPO) levels caused by secretion of the tumor or associated tumor cyst. Read More

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-018-0097-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131788PMC
September 2018
11 Reads

CD36 - a plausible modifier of disease phenotype in familial adenomatous polyposis.

Hered Cancer Clin Pract 2018 28;16:14. Epub 2018 Jul 28.

5School of Biomedical Science and Pharmacy, Faculty of Health and Medicine, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia.

Background: 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 consistently suggested the role of modifier genes in determining disease phenotype, yet none have been substantiated in the human population. The mouse homologue of ( has been proposed as a modifier of disease in the MIN mouse model of FAP. Read More

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http://dx.doi.org/10.1186/s13053-018-0096-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6064055PMC
July 2018
12 Reads

A qualitative study of barriers to genetic counseling and potential for mobile technology education among women with ovarian cancer.

Hered Cancer Clin Pract 2018 4;16:13. Epub 2018 Jul 4.

1Department of Obstetrics, Gynecology and Women's Health, Division of Gynecologic Oncology, University of Minnesota, MMC 395, 420 Delaware Street SE, Minneapolis, MN 55455 USA.

Background: 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 prevention options exist for at-risk family members. Despite these recommendations, uptake of genetic counselling and testing is low. The goal of this study was to identify barriers to and motivators for receipt of genetic counseling along with preferences regarding potential use of a mobile application to promote genetic counseling. Read More

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-018-0095-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031189PMC
July 2018
39 Reads

High frequency of pathogenic non-founder germline mutations in and in families with breast and ovarian cancer in a founder population.

Hered Cancer Clin Pract 2018 5;16:12. Epub 2018 Jun 5.

Institute of Oncology, Riga Stradins University, Dzirciema iela 16, Riga, LV1007 Latvia.

Background: Pathogenic founder mutations (c.4035delA, c.5266dupC) contribute to 3. Read More

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http://dx.doi.org/10.1186/s13053-018-0094-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989401PMC
June 2018
1 Read

Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews.

Hered Cancer Clin Pract 2018 10;16:11. Epub 2018 May 10.

1Center for Health Research, Kaiser Permanente Northwest, Portland, OR USA.

Background: 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 known about how patients and primary care providers (PCPs) track and manage these recommendations. We conducted a small exploratory study of patient and PCP experiences with recommended LS surveillance activities and communication with family members in an integrated health care system. Read More

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http://dx.doi.org/10.1186/s13053-018-0090-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946437PMC
May 2018
10 Reads

Challenges in recruiting African-American women for a breast cancer genetics study.

Hered Cancer Clin Pract 2018 24;16. Epub 2018 Apr 24.

1Division of Gynecologic Oncology, College of Medicine, University of Arkansas for Medical Sciences, 4301 W Markham St. Slot 793, Little Rock, AR 72205 USA.

Background: 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 African-American women in Arkansas with a personal and/or family history of breast cancer. Women were tested for these mutations using a large panel of breast cancer susceptibility genes. Read More

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-018-0091-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937804PMC
April 2018
4 Reads

Retraction Note to: The variant c.68-7 T > A is associated with breast cancer.

Hered Cancer Clin Pract 2018 2;16:10. Epub 2018 May 2.

2Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.

[This retracts the article DOI: 10.1186/s13053-017-0080-y.]. Read More

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http://dx.doi.org/10.1186/s13053-018-0093-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930441PMC
May 2018
1 Read

Platinum-based neoadjuvant chemotherapy in BRCA1-positive breast cancer: a retrospective cohort analysis and literature review.

Hered Cancer Clin Pract 2018 27;16. Epub 2018 Apr 27.

1Riga Stradins University, Riga, Latvia.

Background: There is increasing evidence of high platinum sensitivity in -associated breast cancer. However, evidence from randomized trials is lacking. The aim of this study was to analyze the results of platinum-based chemotherapy for BRCA1-positive breast cancer in a neoadjuvant setting. Read More

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http://dx.doi.org/10.1186/s13053-018-0092-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924493PMC

CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome.

Hered Cancer Clin Pract 2018 7;16. Epub 2018 Mar 7.

1Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia Canada.

Background: 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 for publicly funded genetic testing typically require the presence of a set combination of the predominant syndrome-associated cancer types in the family history. Read More

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http://dx.doi.org/10.1186/s13053-018-0088-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842519PMC
March 2018
5 Reads

Frequency of and causative founder variants in ovarian cancer patients in South-East Poland.

Hered Cancer Clin Pract 2018 27;16. Epub 2018 Feb 27.

5Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Połabska 4 St, 70-115 Szczecin, Poland.

Background: Causative variants in and are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of mutations between ovarian cancer patients have not yet been studied in the region of South-East Poland. Read More

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-018-0089-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828315PMC
February 2018
12 Reads

Genetic variants of prospectively demonstrated phenocopies in kindreds.

Hered Cancer Clin Pract 2018 15;16. Epub 2018 Jan 15.

1Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.

Background: In kindreds carrying 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, which not only may increase the susceptibility of the families' but also be capable of causing cancer in the absence of the variants. We aimed to identify novel genetic variants in prospectively detected breast cancer (BC) or gynecological cancer cases tested negative for their families' pathogenic variant ( or ). Read More

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http://dx.doi.org/10.1186/s13053-018-0086-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769521PMC
January 2018
6 Reads

mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.

Hered Cancer Clin Pract 2018 10;16. Epub 2018 Jan 10.

Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

Background: Founder mutations in the two breast cancer genes, and , have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ancestry has been a cost-efficient approach in such populations. Four Norwegian founder mutations were defined by haplotyping in 2001, and accounted for 68% of mutation carriers at the time. Read More

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http://dx.doi.org/10.1186/s13053-017-0085-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5761139PMC
January 2018
4 Reads

Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes.

Hered Cancer Clin Pract 2018 5;16. Epub 2018 Jan 5.

Department of Neurosurgery, Universitair Ziekenhuis Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

Background: Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening with Gadolinium contrast. Gadolinium accumulation has recently been described in the central nervous system after repeated administrations. The prevalence and rate of accumulation in different subgroups of patients are unknown. Read More

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http://dx.doi.org/10.1186/s13053-017-0084-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5756358PMC
January 2018
12 Reads

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Hered Cancer Clin Pract 2018 4;16. Epub 2018 Jan 4.

Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.

Background: Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and nonsyndromic forms of cancer. This study reports our experience with a 27-gene inherited cancer panel on a cohort of 630 consecutive individuals referred for testing at our laboratory with the following objectives: 1. Determine the rates for positive cases and those with variants of uncertain clinical significance (VUS) relative to data published in the recent literature, 2. Read More

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http://dx.doi.org/10.1186/s13053-017-0083-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753512PMC
January 2018
11 Reads

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

Hered Cancer Clin Pract 2017 29;15:22. Epub 2017 Nov 29.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

Background: Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia (, mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither the etiology of the syndrome nor the distinct genetic alterations during tumorigenesis have been identified.

Methods: To identify somatic point mutations in potential novel candidate genes of SPS-associated lesions and the involved pathways we performed exome sequencing of eleven early serrated polyps obtained from a 41 year-old female patient with clinically confirmed SPS. Read More

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http://dx.doi.org/10.1186/s13053-017-0082-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707812PMC
November 2017
32 Reads

The variant c.68-7 T>A is associated with breast cancer.

Hered Cancer Clin Pract 2017 13;15:20. Epub 2017 Nov 13.

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.

Background: has been demonstrated to cause aberrant splicing and is possibly pathogenic. The population prevalence of the variant is 0.2%, which higher than usual for pathogenic variants. Read More

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-017-0080-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683587PMC
November 2017
6 Reads

Clinical and genetic characterization of hereditary breast cancer in a Chinese population.

Hered Cancer Clin Pract 2017 30;15:19. Epub 2017 Oct 30.

Department of Breast and Thyroid Surgery, Shenzhen Second people's Hospital, Shenzhen, 518035 China.

Background: Breast cancer develops as a result of multiple gene mutations in combination with environmental risk factors. Causative variants in genes such as BRCA1 and/or BRCA2 have been shown to account for hereditary nature of certain breast cancers. However,other genes, such as ATM, PALB2, BRIP1, CHEK, BARD1, while lower in frequency, may also increase breast cancer risk. Read More

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http://dx.doi.org/10.1186/s13053-017-0079-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663067PMC
October 2017
13 Reads

Colorectal cancer incidence in carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.

Hered Cancer Clin Pract 2017 10;15:18. Epub 2017 Oct 10.

Research Group Inherited Cancer, The Norwegian Radium Hospital, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

Background: We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic variants ) despite follow-up with colonoscopy including polypectomy.

Methods: The cohort included Finnish carriers enrolled in 3-yearly colonoscopy ( = 505; 4625 observation years) and carriers from other countries enrolled in colonoscopy 2-yearly or more frequently ( = 439; 3299 observation years). We examined whether the longer interval between colonoscopies in Finland could explain the high incidence of CRC and whether disease expression correlated with differences in population CRC incidence. Read More

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http://dx.doi.org/10.1186/s13053-017-0078-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635542PMC
October 2017
38 Reads

Emotional impact on the results of BRCA1 and BRCA2 genetic test: an observational retrospective study.

Hered Cancer Clin Pract 2017 2;15:16. Epub 2017 Oct 2.

Unit of Oncological Psychology, Centro di Riferimento Oncologico - National Cancer Institute, Aviano, Italy.

Background: BRCA1 and BRCA2 mutations are associated with a higher risk of breast and ovarian tumors. This study evaluated the emotional states of women 1 month after having received the results of the genetic test and assessed eventual associations with the type of outcome, personal/familiar disease history and major socio-demographic variables.

Methods: The study, an observational retrospective one, involved 91 women, evaluated 1 month after receiving their results. Read More

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http://dx.doi.org/10.1186/s13053-017-0077-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625658PMC
October 2017
21 Reads

The potential role of miRNAs in therapy of breast and ovarian cancers associated with BRCA1 mutation.

Hered Cancer Clin Pract 2017 29;15:15. Epub 2017 Sep 29.

Department of Genetics and Pathology, Pomeranian University of Medicine, Szczecin, Poland.

Germline variants within BRCA1 or BRCA2 genes account for approximately 25% of familial aggregations of breast-ovarian cancers. Low or no expression of BRCA1 in breast and ovarian cancers is associated with a good clinical response to treatment with platinum therapies and PARP1 inhibitors. Recent studies demonstrated that microRNAs - small non-coding RNAs, involved in the control of gene expression, can decrease BRCA1 expression by targeting the 3'UTR region of the gene. Read More

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http://dx.doi.org/10.1186/s13053-017-0076-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622493PMC
September 2017
7 Reads

Motivators and barriers of tamoxifen use as risk-reducing medication amongst women at increased breast cancer risk: a systematic literature review.

Hered Cancer Clin Pract 2017 20;15:14. Epub 2017 Sep 20.

Sir Peter MacCallum Dept of Oncology, University of Melbourne, Parkville, VIC 3010 Australia.

Background: Selective estrogen receptor modulators, such as tamoxifen, reduce breast cancer risk by up to 50% in women at increased risk for breast cancer. Despite tamoxifen's well-established efficacy, many studies show that most women are not taking up tamoxifen. This systematic literature review aimed to identify the motivators and barriers to tamoxifen use 's amongst high-risk women. Read More

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http://hccpjournal.biomedcentral.com/articles/10.1186/s13053
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http://dx.doi.org/10.1186/s13053-017-0075-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607482PMC
September 2017
3 Reads

Evaluation of psychosocial aspects in participants of cancer genetic counseling.

Hered Cancer Clin Pract 2017 20;15:13. Epub 2017 Sep 20.

Programa de Asesoramiento Genético Oncológico, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, 950 Sierra Mojada St., Independencia, 44340 Guadalajara, Jalisco Mexico.

Background: The instrument called "Hospital Anxiety and Depression Scale" (HADS) is frequently used to evaluate anxious and depressive symptomatology in patients who receive Cancer Genetic Counseling (CGC). However, this instrument cannot identify all of the psychosocial factors, such as the antecedents of the patients' emotional states or their concerns. The objective of the present research was to compare cases detected with psychosocial alterations by means of HADS and a Psychological Health Interview (PHI). Read More

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http://dx.doi.org/10.1186/s13053-017-0073-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607594PMC
September 2017
12 Reads

Hereditary gynaecologic cancers in Nepal: a proposed model of care to serve high risk populations in developing countries.

Hered Cancer Clin Pract 2017 18;15:12. Epub 2017 Sep 18.

Hereditary Cancer Clinic, Prince of Wales Hospital, Sydney, Australia.

Background: Endometrial, ovarian and breast cancers are paradigms for global health disparity. Women living in the developing world continue to present in later stages of disease and have fewer options for treatment than those in developed countries. Risk reducing surgery is of proven benefit for women at high risk of gynaecological cancer. Read More

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http://hccpjournal.biomedcentral.com/articles/10.1186/s13053
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http://dx.doi.org/10.1186/s13053-017-0072-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604345PMC
September 2017
6 Reads

Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis.

Hered Cancer Clin Pract 2017 26;15:11. Epub 2017 Jul 26.

Nancy and James Grosfeld Cancer Genetics Center, Beaumont Cancer Institute, Beaumont Health, 3577 W 13 Mile Rd, Ste. 140, Royal Oak, MI 48073 USA.

Background: The impact of timing of genetic testing on surgical decision making in women with breast cancer and mutation is not well known.

Methods: Women who were found to carry a deleterious mutation and had been diagnosed with breast cancer were identified from a database at Beaumont Health. Women who had received positive results at least a day prior to their index surgery were considered to be aware of their mutation status prior to surgery. Read More

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http://dx.doi.org/10.1186/s13053-017-0071-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5530488PMC
July 2017
8 Reads

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.

Hered Cancer Clin Pract 2017 21;15:10. Epub 2017 Jul 21.

Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224 USA.

Background: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, mutations trigger familial isolated hyperparathyroidism. Read More

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http://dx.doi.org/10.1186/s13053-017-0070-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521080PMC
July 2017
29 Reads

Hereditary pancreatic cancer: related syndromes and clinical perspective.

Hered Cancer Clin Pract 2017 28;15. Epub 2017 Jun 28.

Medical Oncology Department, Cruces University Hospital, Baracaldo, Spain.

Pancreatic 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. Read More

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http://dx.doi.org/10.1186/s13053-017-0069-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490219PMC
June 2017
23 Reads

polymorphism is associated with an increased risk of familial cancer: evidence from a meta-analysis.

Hered Cancer Clin Pract 2017 13;15. Epub 2017 Jun 13.

Department of Pharmaceuticals, The Second Affiliated Hospital of Dalian Medical University, Dalian, 116027 People's Republic of China.

Adenosine diphosphate (ADP)-ribosylation factor-like tumour suppressor gene 1() 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 with 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. Read More

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http://dx.doi.org/10.1186/s13053-017-0068-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470195PMC
June 2017
4 Reads

Hereditary and non-hereditary branches of family eligible for BRCA test: cancers in other sites.

Hered Cancer Clin Pract 2017 25;15. Epub 2017 May 25.

Centro Studi Tumori Eredo-familiari. Istituto Tumori G Paolo II,IRCCS, 70124 Bari, Italy.

Background: The analysis of relationships of BRCA alterations with cancer at sites other than breast/ovary may provide innovative information concerning BRCA pathogenic role and support additional clinical decisions. Aim of this study is to compare presence of cancers in other sites in members of hereditary (H) and not-hereditary (nH) branches of families of patients eligible to BRCA test.

Methods: We retrospectively analyzed the incidence of cancer in other sites in members of 136 families eligible for hereditary breast/ovarian cancer genetic counseling at Centro Studi Tumori Eredo-familiari of our Institute; we compared the frequency of other cancer types in 1156 members of the H-branch with respect to 1062 members of nH-Branch. Read More

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http://dx.doi.org/10.1186/s13053-017-0067-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445420PMC
May 2017
2 Reads

A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma.

Hered Cancer Clin Pract 2017 12;15. Epub 2017 May 12.

Department of Genetics, Hôpital Nord, CHU Saint Etienne, 42055 Saint-Etienne Cedex 2, France.

Background: The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Read More

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http://dx.doi.org/10.1186/s13053-017-0066-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429559PMC
May 2017
39 Reads

The genetic basis of colonic adenomatous polyposis syndromes.

Hered Cancer Clin Pract 2017 16;15. Epub 2017 Mar 16.

Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, 7491 Norway.

Colorectal 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 diagnosis of FAP might molecularly show a different diagnosis. Read More

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http://dx.doi.org/10.1186/s13053-017-0065-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353802PMC
March 2017
6 Reads

Screening with magnetic resonance imaging, mammography and ultrasound in women at average and intermediate risk of breast cancer.

Hered Cancer Clin Pract 2017 1;15. Epub 2017 Mar 1.

Women's College Research Institute, Women's College Hospital and the University of Toronto, 76 Grenville Street, 6th Floor, Toronto, ON M5S 1B2 Canada.

Background: The addition of MRI to mammography and ultrasound for breast cancer screening has been shown to improve screening sensitivity for high risk women, but there is little data to date for women at average or intermediate risk.

Methods: Two thousand nine hundred and ninety-five women, aged 40 to 65 years with no previous history of breast cancer were enrolled in a screening program, which consisted of two rounds of MRI, ultrasound and mammography, one year apart. Three hundred and fifty-six women had a mutation, 370 women had a first-degree relative with breast cancer (and no mutation) and 2269 women had neither risk factor. Read More

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http://dx.doi.org/10.1186/s13053-017-0064-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5333437PMC
March 2017
11 Reads

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hered Cancer Clin Pract 2017 21;15. Epub 2017 Jan 21.

Department of Pathology, University of Puerto Rico School of Medicine, San Juan, PR USA.

Hereditary 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. Read More

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http://dx.doi.org/10.1186/s13053-017-0063-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5251307PMC
January 2017
29 Reads

Anxiety and depression symptoms among women attending group-based patient education courses for hereditary breast and ovarian cancer.

Hered Cancer Clin Pract 2017 11;15. Epub 2017 Jan 11.

Western Norway Familial Cancer Center, Haukeland University Hospital, Bergen, Norway ; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway ; Learning and Mastery Center in Bergen, Bergen, Norway ; Department of Clinical Science, University of Bergen, Bergen, Norway.

Background: Women carrying -mutations are facing significant challenges, including decision making regarding surveillance and risk-reducing surgery. They often report that they are left alone with these important decisions. In order to enhance the genetic counselling session we organized a group-based patient education (GPE) course for women with -mutations. Read More

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http://hccpjournal.biomedcentral.com/articles/10.1186/s13053
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http://dx.doi.org/10.1186/s13053-016-0062-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225510PMC
January 2017
6 Reads

How does genetic risk information for Lynch syndrome translate to risk management behaviours?

Hered Cancer Clin Pract 2017 5;15. Epub 2017 Jan 5.

Centre for Health Equity, The University of Melbourne, Melbourne, Australia.

Background: There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do not adhere to screening recommendations. This study aimed to explore qualitatively how Lynch syndrome non-carriers and carriers translate genetic risk information and advice to decisions about risk managment behaviours in the Australian healthcare system.

Methods: Participants of the Australasian Colorectal Cancer Family Registry who had undergone predictive genetic testing for Lynch syndrome were interviewed on their risk management behaviours. Read More

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http://dx.doi.org/10.1186/s13053-016-0061-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217251PMC
January 2017
2 Reads

Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study.

Hered Cancer Clin Pract 2016 10;14:20. Epub 2016 Oct 10.

Division of Gastroenterology, University of California, San Francisco, 1701 Divisadero, San Francisco, CA 94115 USA.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary colon cancer syndrome caused by mutations in adenomatous polyposis coli (APC) with both colonic and extra-colonic manifestations. Case reports have noted an association with FAP and intellectual disability and animal studies have shown that APC is implicated in neural development and function, but no studies have investigated neuropsychological, behavioral, or structural brain characteristics of patients with FAP.

Methods: We undertook a pilot, sibling-pair study comparing three patients with FAP to their sex-matched siblings without FAP. Read More

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http://dx.doi.org/10.1186/s13053-016-0060-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057475PMC
October 2016
13 Reads

Prevalence of the R95* germline mutation.

Hered Cancer Clin Pract 2016 27;14:19. Epub 2016 Sep 27.

Section of Oncology, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway ; Department of Oncology, Haukeland University Hospital, Bergen, Norway.

Background: While germline mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R95*), introducing an early stop-codon, in two Norwegian patients diagnosed with locally advanced breast cancer. Both patients were resistant to anthracycline therapy, resembling what has been observed for mutations. Read More

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http://dx.doi.org/10.1186/s13053-016-0059-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039915PMC
September 2016
9 Reads

Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer.

Hered Cancer Clin Pract 2016 6;14(1):18. Epub 2016 Sep 6.

Department of Molecular Medicine and Medical Biotechnology, University Federico II, Naples, Italy.

Background: Early-onset or hereditary ovarian cancer is mostly associated with BRCA1 or BRCA2 mutations. Mismatch repair genes sequence alteration frequently cause colorectal cancer, and, in less extent, other tumors, such as ovarian cancer. Subjects with personal and/or family history suggestive for hereditary cancer should be addressed to cancer genetic counseling, aimed to the identification, definition and management of hereditary cancer syndrome, by a multidisciplinary approach. Read More

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http://dx.doi.org/10.1186/s13053-016-0054-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011803PMC
September 2016
6 Reads

Cytotoxic and targeted therapy for hereditary cancers.

Hered Cancer Clin Pract 2016 23;14(1):17. Epub 2016 Aug 23.

N.N. Petrov Institute of Oncology, Pesochny-2, St. Petersburg, 197758 Russia ; St. Petersburg Pediatric Medical University, St. Petersburg, 194100 Russia ; I.I. Mechnikov North-Western Medical University, St. Petersburg, 191015 Russia ; St. Petersburg State University, St. Petersburg, 199034 Russia.

There is a number of drugs demonstrating specific activity towards hereditary cancers. For example, tumors in BRCA1/2 mutation carriers usually arise via somatic inactivation of the remaining BRCA allele, which makes them particularly sensitive to platinum-based drugs, PARP inhibitors (PARPi), mitomycin C, liposomal doxorubicin, etc. There are several molecular assays for BRCA-ness, which permit to reveal BRCA-like phenocopies among sporadic tumors and thus extend clinical indications for the use of BRCA-specific therapies. Read More

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http://dx.doi.org/10.1186/s13053-016-0057-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994296PMC
August 2016
3 Reads

Pedigree based DNA sequencing pipeline for germline genomes of cancer families.

Hered Cancer Clin Pract 2016 9;14:16. Epub 2016 Aug 9.

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), D69120 Heidelberg, Germany.

Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for analyzing germline genomes from Mendelian types of cancer pedigrees (familial cancer variant prioritization pipeline, FCVPP).

Results: The variant calling step distinguishes two types of genomic variants: single nucleotide variants (SNVs) and indels, which undergo technical quality control. Mendelian types of variants are assumed to be rare and variants with frequencies higher that 0. Read More

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http://dx.doi.org/10.1186/s13053-016-0058-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977614PMC
August 2016
6 Reads
1 Citation
2.103 Impact Factor

Syndromic gastrointestinal stromal tumors.

Authors:
Riccardo Ricci

Hered Cancer Clin Pract 2016 19;14:15. Epub 2016 Jul 19.

Department of Pathology, Università Cattolica del S. Cuore, Largo Agostino Gemelli, 8, I-00168 Rome, Italy.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of gastrointestinal tract. They feature heterogeneous triggering mechanisms, implying relevant clinical differences. The vast majority of GISTs are sporadic tumors. Read More

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http://dx.doi.org/10.1186/s13053-016-0055-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950812PMC
July 2016
1 Read

A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.

Hered Cancer Clin Pract 2016 12;14:14. Epub 2016 Jul 12.

Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany.

Background: Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS) account for a significant proportion of inherited gynecologic malignancies, mainly caused by pathogenic germline mutations in the BRCA1 and BRCA2 genes or in mismatch repair (MMR) genes, such as MLH1 and MSH2. Women harboring deleterious mutations in these genes have increased life-time risks of developing a number of malignancies including ovarian cancer. Since there is a phenotypic overlap of HBOC and LS, timely identification of individuals at-risk of a particular syndrome is crucial in order to optimize cancer risk management. Read More

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http://dx.doi.org/10.1186/s13053-016-0056-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942885PMC
July 2016
17 Reads

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

Hered Cancer Clin Pract 2016 8;14:13. Epub 2016 Jun 8.

Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

Background: Germline mutations in the succinate dehydrogenase complex genes SDHB, SDHC, and SDHD predispose to pheochromocytomas and paragangliomas. Here, we examine the SDHB, SDHC, and SDHD mutation spectrum in the Danish population by screening of 143 Danish pheochromocytoma and paraganglioma patients.

Methods: Mutational screening was performed by Sanger sequencing or next-generation sequencing. Read More

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http://dx.doi.org/10.1186/s13053-016-0053-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898401PMC
June 2016
16 Reads

Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.

Hered Cancer Clin Pract 2016 1;14:12. Epub 2016 Jun 1.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort's Causeway, Cambridge, CB1 8RN UK.

Background: The decision to test for high risk breast cancer gene mutations is traditionally based on risk scores derived from age, family and personal cancer history. Next generation sequencing technologies such as whole genome sequencing (WGS) make wider population testing more feasible. In the UK's 100,000 Genomes Project, mutations in 16 genes including BRCA1 and BRCA2 are to be actively sought regardless of clinical presentation. Read More

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http://dx.doi.org/10.1186/s13053-016-0052-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4888520PMC
June 2016
2 Reads