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Hereditary breast and ovarian cancer

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https://www.readbyqxmd.com/read/28620890/identification-and-characterization-of-a-new-brca2-rearrangement-in-an-italian-family-with-hereditary-breast-and-ovarian-cancer-syndrome
#1
Paola Concolino, Roberta Rizza, Karl Hackmann, Angelo Minucci, Giovanni Luca Scaglione, Maria De Bonis, Alessandra Costella, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
INTRODUCTION: Many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 account for 0-27% of all disease-causing mutations in various populations, while LGRs in BRCA2 are rarer. Here, we describe a novel BRCA2 LGR, involving the duplication of exons 4-26, in an Italian family with hereditary breast and ovarian cancer (HBOC) syndrome. OBJECTIVE: Our purpose was to provide an effective characterization of this variant using a combination of different methods able to establish the exact breakpoints of the duplication...
June 15, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28620008/pten-dicer1-fh-and-their-associated-tumor-susceptibility-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#2
REVIEW
Kris Ann P Schultz, Surya P Rednam, Junne Kamihara, Leslie Doros, Maria Isabel Achatz, Jonathan D Wasserman, Lisa R Diller, Laurence Brugières, Harriet Druker, Katherine A Schneider, Rose B McGee, William D Foulkes
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28611536/germline-mutations-in-triple-negative-breast-cancer
#3
REVIEW
Eric Hahnen, Jan Hauke, Christoph Engel, Guido Neidhardt, Kerstin Rhiem, Rita K Schmutzler
Triple-negative breast cancer (TNBC) is associated with a poor prognosis and defines a subgroup of patients who do not benefit from endocrine or anti-HER2 therapy. Rather than being a biological entity, TNBC represents a heterogeneous disease, and further subtyping is necessary to establish targeted therapies. Germline mutational status may serve as a robust biomarker predicting therapy response, especially with respect to compounds challenging the DNA repair machinery. Patients with TNBC usually show an early onset of the disease, as well as a positive family history of breast and/or ovarian cancer in more than one third of all cases, which suggests that TNBC is closely associated with a hereditary disease cause...
March 2017: Breast Care
https://www.readbyqxmd.com/read/28609837/familial-pancreatic-cancer-and-the-future-of-directed-screening
#4
REVIEW
Sara Welinsky, Aimee L Lucas
Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs...
June 15, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28577564/high-frequency-of-the-recurrent-c-1310_1313delaaga-brca2-mutation-in-the-north-east-of-morocco-and-implication-for-hereditary-breast-ovarian-cancer-prevention-and-control
#5
Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani
BACKGROUND: To date, a limited number of BRCA1/2 germline mutations have been reported in hereditary breast and/or ovarian cancer in the Moroccan population. Less than 20 different mutations of these two genes have been identified in Moroccan patients, and recently we reported a further BRCA2 mutation (c.1310_1313delAAGA; p.Lys437IlefsX22) in three unrelated patients, all from the North-East of the country. We aimed in this study to evaluate the frequency and geographic distribution of this BRCA2 frameshift mutation, in order to access its use as the first-line BRCA genetic testing strategy for Moroccan patients...
June 2, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28573517/video-education-on-hereditary-breast-and-ovarian-cancer-hboc-for-physicians-an-interventional-study
#6
Bhuma Krishnamachari, Mahin Rehman, Jason E Cohn, Vivian Chan, Neil Modi, Ofri Leitner, Kelly Tangney, April O'Connor, William Blazey, Sharon Koehler, David Tegay
The National Comprehensive Cancer Network (NCCN) guidelines are the gold standard in hereditary cancer risk assessment, screening, and treatment. A minority of physicians follow NCCN guidelines for BRCA1 or BRCA2 mutations. This study assesses the impact of an interventional educational program on HBOC in terms of knowledge. Physicians were sent an invite to join either an intervention survey (web-training offered prior to the knowledge survey) or control survey (web-training offered after the knowledge survey)...
June 1, 2017: Journal of Cancer Education: the Official Journal of the American Association for Cancer Education
https://www.readbyqxmd.com/read/28561672/pancreatic-adenocarcinoma-improving-prevention-and-survivorship
#7
Davendra P S Sohal, Field F Willingham, Massimo Falconi, Kara L Raphael, Stefano Crippa
Pancreatic cancer is a growing problem in oncology, given slowly rising incidence and continued suboptimal outcomes. A concerted effort to reverse this tide will require prevention, early diagnosis, and improved systemic therapy for curable disease. We focus on these aspects in detail in this study. Hereditary pancreatic cancer is an underappreciated area. With the growing use of genomics (both somatic and germline) in cancer care, there is increasing recognition of hereditary pancreatic cancer cases: around 10% of all pancreatic cancer may be related to familial syndromes, such as familial atypical multiple mole and melanoma (FAMMM) syndrome, hereditary breast and ovarian cancer, Lynch syndrome, and Peutz-Jeghers syndrome...
2017: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/28559958/hereditary-and-non-hereditary-branches-of-family-eligible-for-brca-test-cancers-in-other-sites
#8
M Digennaro, D Sambiasi, S Tommasi, B Pilato, S Diotaiuti, A Kardhashi, G Trojano, A Tufaro, A V Paradiso
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...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28559769/next-generation-sequencing-reveals-a-nonsense-mutation-p-arg364ter-in-mre11a-gene-in-an-indian-patient-with-familial-breast-cancer
#9
Pratibha Sharma Bhai, Deepak Sharma, Renu Saxena, Ishwar C Verma
BACKGROUND: The MRN complex consisting of MRE11A-RAD50-NBS1 proteins is involved in the repair of double-strand breaks, and mutations in genes coding for the MRN complex have been identified in families with breast and ovarian cancer. CASE REPORT: In a BRCA-negative family with positive history of breast and endometrial cancer, next-generation sequencing-based panel testing identified a mutation in the MRE11A gene (NM_005590 c.1090C>T: p.Arg364Ter). This mutation results in a shorter mutated protein lacking 2 DNA binding domains (the GAR domain and the RAD50 binding site), abolishing the function of protein...
May 2017: Breast Care
https://www.readbyqxmd.com/read/28542378/familial-breast-cancer-genetic-counseling-over-time-including-patients%C3%A2-expectations-and-initiators-considering-the-angelina-jolie-effect
#10
Christina Evers, Christine Fischer, Nicola Dikow, Sarah Schott
PURPOSE: The German Consortium for hereditary breast/ovarian cancer (GC-HBOC) aims for nationwide access to professional, individualized yet structured care for families at high risk. The identification of such families remains key for optimal care. Our study evaluates counselees' characteristics, referral practices, expectations and motivations in respect to their first genetic consultation. The impact of the Angelina Jolie Effect (AJE) was prospectively assessed. METHODS: All counselees could participate through a questionnaire...
2017: PloS One
https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#11
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28515260/multigene-testing-for-hereditary-cancer-when-why-and-how
#12
Kenneth Offit
Multigene testing is a complicated area, with advantages and disadvantages of testing for hereditary cancer syndromes. Currently, NCCN does not endorse routing multiplex testing outside of a research setting, and/or intensive genetic counseling regarding risks and benefits. The 2017 NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian and Colorectal provide suggestions for mutation carriers identified by panel tests.
May 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28514183/multigene-panel-testing-provides-a-new-perspective-on-lynch-syndrome
#13
Carin R Espenschied, Holly LaDuca, Shuwei Li, Rachel McFarland, Chia-Ling Gau, Heather Hampel
Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly biasing results. We aimed to describe a large cohort of mismatch repair (MMR) mutation carriers ascertained through multigene panel testing, evaluate their phenotype, and compare the results with those of previous studies...
May 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28508305/recent-advances-in-targeting-dna-repair-pathways-for-the-treatment-of-ovarian-cancer-and-their-clinical-relevance
#14
REVIEW
Katsutoshi Oda, Michihiro Tanikawa, Kenbun Sone, Mayuyo Mori-Uchino, Yutaka Osuga, Tomoyuki Fujii
Poly (ADP-ribose) polymerase (PARP) inhibitors have attracted much attention as one of the major molecular-targeted therapeutics for inhibiting DNA damage response. The PARP inhibitor, olaparib, has been clinically applied for treating certain recurrent ovarian cancer patients with BRCA1/2 mutations in Europe and the United States. It was also designated on 24 March 2017 as an orphan drug in Japan for similar clinical indications. In this review, we discuss (i) the prevalence of BRCA1/2 mutations in ovarian cancer, (ii) clinical trials of PARP inhibitors in ovarian cancer, (iii) genetic counseling for hereditary breast and ovarian cancer patients, and (iv) non-BRCA genes that may be associated with homologous recombination deficiency...
May 15, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28500412/-hereditary-breast-and-ovarian-cancer
#15
REVIEW
S F Lax
Hereditary breast and ovarian carcinomas are frequently caused by germline mutations of the BRCA1 and BRCA2 genes (BRCA1/2 syndromes) and are often less associated with other hereditary syndromes such as Li-Fraumeni and Peutz-Jeghers. The BRCA1/2 proteins have a special role in DNA repair. Therefore, loss of function due to mutation causes an accumulation of mutations in other genes and subsequent tumorigenesis at an early age. BRCA1/2 mutations are irregularly distributed over the length of the genes without hot spots, although special mutations are known...
May 12, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28488140/characterization-of-a-new-brca1-rearrangement-in-an-italian-woman-with-hereditary-breast-and-ovarian-cancer-syndrome
#16
Paola Concolino, Roberta Rizza, Karl Hackmann, Ida Paris, Angelo Minucci, Elisa De Paolis, Giovanni Scambia, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
BACKGROUND: We report a novel BRCA1 LGR, involving the complete duplication of exon 3, in an Italian patient with a strong family history of breast and ovarian cancer. Our purpose is to provide an effective characterization of this LGR using a combination of different methods able to establish the exact breakpoints of the duplication. METHODS: MAQ assay was used as primary screening method in LGRs detection. Array CGH, RT-PCR, and Long-PCR were used for a careful characterization of rearrangement and breakpoint regions...
May 9, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28484856/-hereditary-gastric-and-pancreatic-cancer
#17
REVIEW
C Langner
Most cases of gastric and pancreatic cancer are sporadic, but familial clustering can be observed in approximately 10% of cases. Hereditary gastric cancer accounts for a very low percentage of cases (1-3%) and two syndromes have been characterized: hereditary diffuse gastric cancer (HDGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). Gastric and pancreatic cancer can develop in the setting of other hereditary cancer syndromes, such as hereditary breast and ovarian cancer syndrome (HBOC), Li-Fraumeni syndrome, Lynch syndrome, familial adenomatous polyposis (FAP), or various hamartomatous polyposis syndromes, including juvenile polyposis and Peutz-Jeghers syndrome...
May 8, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28477361/high-grade-serous-carcinoma-hgsc-of-tubo-ovarian-origin-recent-developments
#18
REVIEW
Naveena Singh, W Glenn McCluggage, C Blake Gilks
Extra-uterine high-grade serous carcinoma (HGSC) accounts for most of the morbidity and mortality associated with ovarian carcinoma, and is one of the leading causes of cancer death in women. Until recently our understanding of HGSC was very limited, compared to other common cancers, and it has only been in the last 15 years that we have learned how to accurately diagnose this ovarian carcinoma histotype. Since then, however, there has been rapid progress, with identification of a precursor lesion in the fallopian tube, development of prevention strategies for both those with inherited susceptibility (Hereditary Breast and Ovarian Cancer Syndrome) and without the syndrome, and elucidation of the molecular events important in oncogenesis...
May 6, 2017: Histopathology
https://www.readbyqxmd.com/read/28477318/molecular-characterization-and-clinical-interpretation-of-brca1-brca2-variants-in-families-from-murcia-south-eastern-spain-with-hereditary-breast-and-ovarian-cancer-clinical-pathological-features-in-brca-carriers-and-non-carriers
#19
Xavier Gabaldó Barrios, Mª Desamparados Sarabia Meseguer, Miguel Marín Vera, Ana Isabel Sánchez Bermúdez, José Antonio Macías Cerrolaza, Pilar Sánchez Henarejos, Marta Zafra Poves, Mª Rosario García Hernández, Encarna Cuevas Tortosa, Ángeles Aliaga Baño, Verónica Castillo Guardiola, Pedro Martínez Hernández, Isabel Tovar Zapata, Enrique Martínez Barba, Francisco Ayala de la Peña, José Luis Alonso Romero, José Antonio Noguera Velasco, Francisco Ruiz Espejo
This is the first study performed in Murcia (south-eastern Spain) in which 592 families with hereditary breast and ovarian cancer were identified thanks to Genetic Counselling Units from this area over 6 years. Diagnostic performance was 18.1% and 194 different genetic variants were obtained. Variants with uncertain significance accounted for only 5.6% of the total number of reports, so our population has been well characterised. In BRCA1 gene, two novel variants were found (c.1859delT and c.3205C > T) and the most frequently detected mutations were c...
May 5, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28476184/antim%C3%A3-llerian-hormone-levels-are-lower-in-brca2-mutation-carriers
#20
Lauren Johnson, Mary D Sammel, Susan Domchek, Allison Schanne, Maureen Prewitt, Clarisa Gracia
OBJECTIVE: To compare antimüllerian hormone (AMH) levels in women at high risk for hereditary breast and ovarian cancer compared with healthy low-risk control women. DESIGN: Prospective cohort. SETTING: Not applicable. PATIENT(S): Reproductive-age women with a uterus and both ovaries were analyzed in four groups: BRCA1 mutation carriers, BRCA2 carriers, BRCA-negative women, and low-risk controls. INTERVENTION(S): Self-collected dried blood spot...
May 2017: Fertility and Sterility
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