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Current prospects of hereditary adrenal tumors: towards better clinical management Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2024-03-26 Akihiro Ohmoto, Naomi Hayashi, Shunji Takahashi, Arisa Ueki
Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients with ACC are associated with with Li-Fraumeni syndrome (LFS), and those with PPGL with multiple endocrine neoplasia type 2. Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome
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Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2024-02-28 Liwen Yang, Duan Duan, Ying Xiong, Tianjiao Liu, Lijun Zhao, Fan Lai, Dingxian Gu, Liuying Zhou
Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutaneous macules and multiple gastrointestinal hamartomatous polyps. Gastric-type endocervical adenocarcinoma (G-EAC), a special subtype of cervical adenocarcinoma with non-specific symptoms and signs, is known to occur in approximately 11% of female patients with PJS. Here, we report
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Primary fallopian tube cancer followed by primary breast cancer in RAD51C mutation carrier treated with niraparib as first line maintenance therapy: a case report Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2024-02-15 Hua Yuan, Rong Zhang, Ning Li, Hongwen Yao
Given the rarity of RAD51C mutations, the risk and treatment of metachronous breast cancer after the diagnosis of ovarian cancer in RAD51C mutation carriers is not clear, especially for those who have received PARPi treatment. We report the case of a 65-year-old woman diagnosed with stage IIIC high-grade serous primary fallopian tube cancer. The patient had no family history of breast or ovarian cancer
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Li-Fraumeni syndrome presenting with de novo TP53 mutation, severe phenotype and advanced paternal age: a case report Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2024-01-18 Juan Pablo Arango-Ibañez, Luis Gabriel Parra-Lara, Ángela R. Zambrano, Lisa Ximena Rodríguez-Rojas
Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic variants in the gene TP53. This gene codes for the P53 protein, a crucial player in genomic stability, which functions as a tumor suppressor gene. Individuals with LFS frequently develop multiple primary tumors at a young age, such as soft tissue sarcomas, breast cancer, and brain tumors. A 38 years-old
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Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-12-19 Ryan Mooney, Yelena P. Wu, Kelsey Kehoe, Molly Volkmar, Wendy Kohlmann, Cathryn Koptiuch, Kimberly A Kaphingst
Lynch Syndrome is among the most common hereditary cancer syndromes and requires ongoing cancer surveillance, repeated screenings and potential risk-reducing surgeries. Despite the importance of continued surveillance, there is limited understanding of patient experiences after initial testing and counseling, the barriers or facilitators they experience adhering to recommendations, and how they want
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SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-12-08 Kimberley Cao, John-Paul Plazzer, Finlay Macrae
Juvenile polyposis syndrome (JPS), a rare autosomal dominant syndrome, affects one per 100 000 births, increasing lifetime cancer risk by 9 – 50%. Around 40–60% of JPS cases are caused by disease-causing variants (DCV) in SMAD4 or BMPR1A genes, of which SMAD4 accounts for 20–30%. To characterise genotype–phenotype correlations between sites and types of variants within SMAD4 to JPS phenotypes, to inform
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Choices for cancer prevention for women with a BRCA1 mutation? a personal view Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-11-29 Steven A. Narod
With widespread testing for susceptibility genes, increasing numbers of women are being identified to carry a mutation in one of many genes which renders them susceptible to cancer. The first gene to be identified (in 1994) was BRCA1 which increases a woman’s risk for breast cancer (70%) and ovarian cancer (40%). The prevalence of BRCA1 gene mutations has been studied widely and in many countries,
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Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-11-27 Hiroko Nakahira, Yoji Takeuchi, Yusaku Shimamoto, Shingo Ishiguro, Hiroshi Yunokizaki, Yasumasa Ezoe, Fumie Fujisawa, Ryu Ishihara, Tetsuji Takayama, Teruhiko Yoshida, Michihiro Mutoh, Hideki Ishikawa
Patients with familial adenomatous polyposis (FAP) have a lifetime risk of developing duodenal adenomas approaching 100%, and the relative risk for duodenal cancer compared with the general population is high. We conducted a retrospective study to investigate the progression of non-ampullary duodenal adenomas (NADAs) and risk factors for advanced lesions in patients with FAP. Of 248 patients with 139
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“Go ahead and screen” - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-11-17 Jennifer L. Schneider, Alison J. Firemark, Sara Gille, James Davis, Pamala A. Pawloski, Su-Ying Liang, Mara M. Epstein, Jan Lowery, Christine Y. Lu, Ravi N. Sharaf, Andrea N. Burnett-Hartman, Victoria Schlieder, Zachary M. Salvati, Deborah Cragun, Alanna Kulchak Rahm, Jessica Ezzell Hunter
Lynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC). Universal tumor screening (UTS) of newly diagnosed CRC cases is recommended to aid in diagnosis of LS and reduce cancer-related morbidity and mortality. However, not all health systems have adopted UTS processes and implementation may be inconsistent due to system and patient-level complexities. To identify barriers
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Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-11-13 Aya Tanaka, Megumi Matsumoto, Mami Takao, Shoko Miura, Yuri Hasegawa, Ryota Otsubo, Hiroko Hayashi, Ichiro Isomoto, Kiyonori Miura, Takeshi Nagayasu
In Japan, genetic testing, surveillance, and risk-reducing surgery for hereditary breast and ovarian cancer (HBOC) syndrome have been covered by the Japanese national insurance system since April 2020. On the other hand, the current situation is that medical care, including surveillance of undiagnosed (cancer-free) patients, is self-funded even for individuals with HBOC. We report a case in which breast
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Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-11-11 Noor Muhammad, Ayesha Azeem, Shumaila Arif, Humaira Naeemi, Iqra Masood, Usman Hassan, Bushra Ijaz, Faisal Hanif, Aamir Ali Syed, Muhammed Aasim Yusuf, Muhammad Usman Rashid
BRCA1 and BRCA2 (BRCA1/2) are the most frequently investigated genes among Caucasian pancreatic cancer patients, whereas limited reports are available among Asians. We aimed to investigate the prevalence of BRCA1/2 germline variants in Pakistani pancreatic cancer patients. One hundred and fifty unselected and prospectively enrolled pancreatic cancer patients were comprehensively screened for BRCA1/2
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Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-10-20 Miguel Angel Trujillo-Rojas, María de la Luz Ayala-Madrigal, Melva Gutiérrez-Angulo, Anahí González-Mercado, José Miguel Moreno-Ortiz
Lynch Syndrome (LS) is an autosomal dominant inheritance disorder characterized by genetic predisposition to develop cancer, caused by pathogenic variants in the genes of the mismatch repair system. Cases are detected by implementing the Amsterdam II and the revised Bethesda criteria, which are based on family history. Patients who meet the criteria undergo posterior tests, such as germline DNA sequencing
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The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-10-12 Suguru Oka, Shinji Urakami, Kiichi Hagiwara, Michikata Hayashida, Kazushige Sakaguchi, Yuji Miura, Naoko Inoshita, Masami Arai
Prostate cancer is one of the most heritable human cancers. Lynch syndrome is an autosomal dominant inheritance caused by germline mutations in DNA mismatch repair (MMR) genes, which are also associated with an increased incidence of prostate cancer. However, prostate cancer has not been defined as a Lynch syndrome-associated cancer. The proportion of Lynch syndrome patients in primary prostate cancers
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Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-10-11 Pal Møller, Toni T. Seppälä, Aysel Ahadova, Emma J. Crosbie, Elke Holinski-Feder, Rodney Scott, Saskia Haupt, Gabriela Möslein, Ingrid Winship, Sanne W. Bajwa-ten Broeke, Kelly E. Kohut, Neil Ryan, Peter Bauerfeind, Laura E. Thomas, D. Gareth Evans, Stefan Aretz, Rolf H. Sijmons, Elizabeth Half, Karl Heinimann, Karoline Horisberger, Kevin Monahan, Christoph Engel, Giulia Martina Cavestro, Robert Fruscio
The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of these MMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch
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Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-09-29 Bin-bin Li, Hui Zheng, Yi-Dan Lou, Wen-Wei Zhang, Song Zheng
We present a case of a male patient with neurofibromatosis type 1 diagnosed with pancreatic divisum and several gastrointestinal tumors. A 55-year-old man was admitted to the hospital with recurrent chronic pancreatitis, indicating a large mass in the ampulla. In addition, genetic testing revealed two unique germline mutations in the neurofibromin (NF1) gene, and their potential interaction in promoting
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Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-09-08 Tracy Lowe, Jane DeLuca, Ludovico Abenavoli, Luigi Boccuto
Familial pancreatic cancer touches families through a genetic susceptibility to developing this neoplasia. Genetic susceptibility is assessed via family history, genetic testing, or both. Individuals with two or more first-degree relatives or three or more relatives of any degree diagnosed with pancreatic cancer are considered at elevated risk. Following a diagnosis of familial pancreatic cancer, patients
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A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-08-25 M. F. Broekema, E. J. W. Redeker, M. T. Uiterwaal, L. P. van Hest
WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, including colorectal cancer. AXIN2, encoded by the AXIN2 gene, is a key negative regulator and target of the canonical WNT signaling pathway. Germline mutations in AXIN2 are associated with absence
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Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-08-11 Kaylee A. Underkofler, Martha H. Thomas, Christina J. Taylor, Christa L. Mazur, Sarah H. Erickson, Kari L. Ring
High-risk surveillance for patients with Li-Fraumeni syndrome (LFS) has shown a stage shift and improved overall survival, but is demanding. Our objective was to evaluate surveillance adherence in a population of patients with LFS presenting for high-risk care. A retrospective analysis of surveillance adherence of adult patients with LFS at a single institution was performed. Adherence was defined
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Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-07-17 Kyota Tatsuta, Mayu Sakata, Moriya Iwaizumi, Risa Kojima, Katsumasa Yamanaka, Satoshi Baba, Katsunori Suzuki, Yoshifumi Morita, Hirotoshi Kikuchi, Yoshihiro Hiramatsu, Kiyotaka Kurachi, Hiroya Takeuchi
: This study aimed to evaluate the changes in the rates of genetic counseling and genetic testing as well as the diagnosis rate of Lynch syndrome (LS)-associated colorectal cancer before and after multistep approach with multidisciplinary team in Japanese. In September 2016, we started universal screening for LS by mismatch repair protein immunohistochemistry and prospectively collected the records
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Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-07-14 Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska, Slavena Enkova Nikolova
Synchronous endometrial and ovarian cancer (SEOC) accounts for 50–70% of all synchronous gynecology cancers in women. Approximately 14% of SEOC cases are caused by Lynch syndrome (LS). The widespread introduction of “universal screening” at LS (all cases with CRC and all EC cases diagnosed before age 60 should be tested for MMR deficiency) has led to an increasing number of suspected LS cases- MMR-deficient
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Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2022” Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-07-12
Edited by Jan Lubiński The Supplement Editor declares no competing interests Funding: "Clinical Genetics of Cancer 2022" was subsidised by the Polish Ministry of Education and Science within the framework of the programme "Excellent Science (Doskonała Nauka)" (project no. DNK/SP/550146/20221). Rodney J. Scott1, Raewyn Billings2, Kathy Tucker3 1Discipline of Medical Genetics, School of Biomedical Sciences
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Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-07-03 M. E. Papadopulos, J. P. Plazzer, F. A. Macrae
Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated with an increased risk of gastrointestinal malignancy. Disease causing variants (DCVs) in BMPR1a or SMAD4 account for 45–60% of JPS cases, with BMPR1a DCVs accounting for 17–38% of JPS cases. Within those with either a BMPR1a or SMAD4 DCV, there is phenotypic variability
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BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-07-03 Olfat Ahmad, Christian Sutter, Steffen Hirsch, Stefan M. Pfister, Christian P. Schaaf
A founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosomal segment, and is observed at a high frequency in a defined population. This founder effect occurs as a consequence of long-standing inbreeding of isolated populations. For high-risk cancer predisposition genes, such as BRCA1/2, the identification of founder variants in a certain
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Genetic testing for hereditary breast cancer in Poland: 1998–2022 Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-06-13 Jacek Gronwald, Cezary Cybulski, Tomasz Huzarski, Anna Jakubowska, Tadeusz Debniak, Marcin Lener, Steven A Narod, Jan Lubinski
BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation in BRCA1. The majority of mutations consist of three founder mutations. A rapid inexpensive test for these three mutations can be used to screen all Polish adults at a reasonable cost. In the region
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Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-06-12 Michaela Kuhlen, Mariola Monika Golas, Tina Schaller, Nicole Stadler, Felicitas Maier, Olaf Witt, Michael C. Frühwald
Lynch syndrome (LS) is not considered part of childhood cancer predisposition syndromes. Analysis of a pediatric osteosarcoma (OS) displayed hypermutation (16.8), alternative lengthening of telomeres (ALT), loss of PMS2 expression in tumor tissue (retained in non-neoplastic cells), PMS2 loss of heterozygosity (LOH), and high-degree of microsatellite instability (MSI) tested by PCR. A heterozygous duplication
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Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-05-15 Anna Byrjalsen, Anna Engell Brainin, Thomas Kromann Lund, Mette Klarskov Andersen, Anne Marie Jelsig
The end of each chromosome consists of a DNA region termed the telomeres. The telomeres serve as a protective shield against degradation of the coding DNA sequence, as the DNA strand inevitably ‒ with each cell division ‒ is shortened. Inherited genetic variants cause telomere biology disorders when located in genes (e.g. DKC1, RTEL1, TERC, TERT) playing a role in the function and maintenance of the
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Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-05-08 Samantha Williams, Jessica E. Ebrahimzadeh, Daniel Clay, Gillian Constantino, Jordan Heiman, Kirk J. Wangensteen, Kathleen Valverde, Nadim Mahmud, Bryson W. Katona
The study purpose is to compare outcomes associated with completion of genetic testing between telemedicine and in-person gastrointestinal cancer risk assessment appointments during the COVID-19 pandemic. Data was collected on patients with scheduled appointments between July 2020 and June 2021 in a gastrointestinal cancer risk evaluation program (GI-CREP) that utilized both telemedicine and in-person
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COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-04-12 Zewen Zhang, Nur Diana Binte Ishak, Frances Victoria Fajardo Que, Zi Yang Chua, Sock Hoai Chan, Jianbang Chiang, Joanne Ngeow Yuen Yie
Although Singapore is one of the highest vaccinated countries in the world, vaccine hesitancy remains in a subpopulation, including individuals with cancer predisposition syndromes. At the Cancer Genetics Service National Cancer Centre Singapore, we see patients with germline genetic alterations, most being BRCA1/2 pathogenic/likely pathogenic variant (PV/LPV) carriers. While reported safe for cancer
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Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-03-16 Elina Sivina, Lubova Blumberga, Gunta Purkalne, Arvids Irmejs
Triple-negative breast cancer is a heterogeneous molecular subtype of BC. Pathological complete response (pCR) is an important surrogate marker for recurrence-free and overall survival. The aim of this study was to evaluate clinical and pathological factors that are associated with complete pathological response status in triple-negative breast cancer patients receiving neoadjuvant chemotherapy. Eighty
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Are population level familial risks and germline genetics meeting each other? Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-03-08 Kari Hemminki, Xinjun Li, Asta Försti, Charis Eng
Large amounts of germline sequencing data have recently become available and we sought to compare these results with population-based family history data. Family studies are able to describe aggregation of any defined cancers in families. The Swedish Family-Cancer Database is the largest of its kind in the world, covering the Swedish families through nearly a century with all cancers in family members
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Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding? Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-01-28 Sergio Carrera, Ana Belén Rodríguez-Martínez, Intza Garin, Esther Sarasola, Cristina Martínez, Hiart Maortua, Almudena Callejo, Abigail Ruiz de Lobera, Alberto Muñoz, Nagore Miñambres, Pablo Jiménez-Labaig
Colorectal cancer (CRC) is a highly prevalent disease in developed countries. Inherited Mendelian causes account for approximately 5% of CRC cases, with Lynch syndrome and familial adenomatous polyposis being the most prevalent forms. Scientific efforts are focused on the discovery of new candidate genes associated with CRC and new associations of phenotypes with well-established cancer-related genes
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The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2023-01-28 Olfat Ahmad, Asta Försti
The current understanding of the inherited risk of colorectal cancer (CRC) started with an observational clinical era in the late 19th century, which was followed by a genetic era starting in the late 20th century. Genome-wide linkage analysis allowed mapping several high-risk genes, which marked the beginning of the genetic era. The current high-throughput genomic phase includes genome-wide association
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Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-12-19 Dick, Julia, Tüchler, Anja, Brédart, Anne, Vitinius, Frank, Wassermann, Kirsten, Rhiem, Kerstin, Schmutzler, Rita K.
Women carrying BRCA1/2 pathogenic variants are exposed to elevated risks of developing breast cancer (BC) and are faced by a complex decision-making process on preventative measures, i.e., risk-reducing mastectomy (RRM), and intensified breast surveillance (IBS). In this prospective cohort study we investigated the effect of anxiety, personality factors and coping styles on the decision-making process
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The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-11-21 Møller, Pål
A brief description of why and for which purposes the Prospective Lynch Syndrome Database was established, the principles and design, and the main classes of results are given. Data input is assumption-free input enabling validation of paradigms used to explain the results. The design is considering cancer/age as discrete events to occur or not in a time dimension in a closed room compliant with population
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Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-10-01 Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana
To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed
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Modifier genes and Lynch syndrome: some considerations Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-09-10 Scott, Rodney J.
Lynch Syndrome (LS) is a highly variable entity with some patients presenting at very young ages with malignancy whereas others may never develop a malignancy yet carry an unequivocal genetic predisposition to disease. The most frequent LS malignancy remains colorectal cancer, a disease that is thought to involve genetic as well as environmental factors in its aetiology. Environmental insults are undeniably
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Efficacy of different neoadjuvant treatment regimens in BRCA-mutated triple negative breast cancer: a systematic review and meta-analysis Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-09-09 Caramelo, Olga, Silva, Cristina, Caramelo, Francisco, Frutuoso, Cristina, Pinto, Leonor, Almeida-Santos, Teresa
Triple negative breast cancer (TNBC) is an aggressive breast cancer strongly associated with BRCA mutation. Standard neoadjuvant chemotherapy remains the standard of care for early stage TNBC, the optimal chemotherapy regimen is still a matter of discussion. Other agents, such as poly-ADP-ribosyl polymerase inhibitors (PARPi) and anti-vascular endothelial growth factor (VEGF) antibodies were evaluated
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Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-09-08 Bokkers, Kyra, Bleiker, Eveline M. A., Hoogendam, Jacob P., Velthuizen, Mary E., Schreuder, Henk W. R., Gerestein, Cornelis G., Lange, Joost G., Louwers, Jacqueline A., Koudijs, Marco J., Ausems, Margreet G. E. M., Zweemer, Ronald P.
There is a growing need for genetic testing of women with epithelial ovarian cancer. Mainstream genetic testing provides an alternative care pathway in which non-genetic healthcare professionals offer pre-test counseling themselves. We aimed to explore the impact of mainstream genetic testing on patients’ experiences, turnaround times and adherence of non-genetic healthcare professionals to the mainstream
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Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-09-06 Speight, B., Colvin, E., Epurescu, E. D., Drummond, J., Verhoef, S., Pereira, M., Evans, D. G., Tischkowitz, M.
Germline pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. The vast majority of these variants are inherited from a parent. De novo constitutional pathogenic variants are rare. Even fewer cases of constitutional mosaicism have been reported and these have mostly been described in women with breast cancer. Here we report low-level constitutional mosaicism identified
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Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-09-02 Shah, Ibrahim H., Salo-Mullen, Erin E., Amoroso, Kimberly A., Kelsen, David, Stadler, Zsofia K., Hamilton, Jada G.
Hereditary Diffuse Gastric Cancer (HDGC) syndrome is an autosomal dominant hereditary cancer predisposition associated with germline pathogenic/likely pathogenic variants in the CDH1 gene. Identifying early stage HDGC is difficult, and prophylactic measures can be effective in preventing incidence. Preimplantation Genetic Testing (PGT) can provide information about CDH1 variant status, HDGC risk, and
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Barriers and facilitators to using aspirin for preventive therapy: a qualitative study exploring the views and experiences of people with Lynch syndrome and healthcare providers Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-08-23 Lloyd, Kelly E., Foy, Robbie, Hall, Louise H., Ziegler, Lucy, Green, Sophie M. C., Haider, Zainab F., Taylor, David G., MacKenzie, Mairead, Smith, Samuel G.
The National Institute for Health and Care Excellence (NG151) recommends considering daily aspirin for people with Lynch syndrome to reduce colorectal cancer risk. However, deciding whether to initiate aspirin could be a complex decision for patients and their healthcare providers, as both the potential benefits and harms need to be considered. We conducted semi-structured interviews to explore the
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BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-08-19 El Ansari, Fatima Zahra, Jouali, Farah, Fekkak, Rim, Bakkach, Joaira, Ghailani Nourouti, Naima, Barakat, Amina, Bennani Mechita, Mohcine, Fekkak, Jamal
While the role of BRCA1/2 genes in familial breast and ovarian cancer is well established, their implication in the sporadic form of both cancers is still controversial. With the development of poly (ADP-ribose) polymerase (PARP) inhibitors, the exact relationship between BRCA1/2 genes and sporadic triple negative breast cancer/high grade serous carcinoma (TNBC/HGSC) needs to be further investigated
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Unravelling genetic variants of a swedish family with high risk of prostate cancer Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-07-23 Barilla, Serena, Lindblom, Annika, Helgadottir, Hafdis T.
Prostate cancer is the most prevalent cancer in men worldwide. It is a polygenic disease with a substantial proportion of heritability. Identification of novel candidate biomarkers is crucial for clinical cancer prevention and the development of therapeutic strategies. Here, we describe the analysis of rare and common genetic variants that can predispose to the development of prostate cancer. Whole-genome
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Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-07-15 Jonnagadla, Sowmya, Joseland, Sharelle L., Saya, Sibel, den Elzen, Nicole, Isbister, Joanne, Winship, Ingrid M., Buchanan, Daniel D.
A suspected Lynch syndrome (SLS) diagnosis is made when a tumor exhibits DNA mismatch repair deficiency but cannot be definitively assigned to an inherited or non-inherited etiology. This diagnosis poses challenges for healthcare professionals, patients, and their families in managing future cancer risks and clinical care. This qualitative study aimed to explore the psychosocial and behavioral responses
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Current status of inherited pancreatic cancer Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-06-27 Olakowski, Marek, Bułdak, Łukasz
It is estimated that about 10% of pancreatic cancer cases have a genetic background. People with a familial predisposition to pancreatic cancer can be divided into 2 groups. The first is termed hereditary pancreatic cancer, which occurs in individuals with a known hereditary cancer syndrome caused by germline single gene mutations (e.g., BRCA1/2, CDKN2A). The second is considered as familial pancreatic
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Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-06-22 Carlsson, Lindsay, Thain, Emily, Gillies, Brittany, Metcalfe, Kelly
Knowledge of the genetic mechanisms driving hereditary breast and ovarian cancer (HBOC) has recently expanded due to advances in gene sequencing technologies. Genetic testing for HBOC risk now involves multi-gene panel testing, which includes well characterized high-penetrance genes (e.g. BRCA1 and BRCA2), as well as moderate- and low-penetrance genes. Certain moderate and low penetrance genes are
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Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-06-16 Akbar, Fizza, Siddiqui, Zahraa, Waheed, Muhammad Talha, Ehsan, Lubaina, Ali, Syed Ibaad, Wiquar, Hajra, Valimohammed, Azmina Tajuddin, Khan, Shaista, Vohra, Lubna, Zeeshan, Sana, Rashid, Yasmin, Moosajee, Munira, Jabbar, Adnan Abdul, Zahir, Muhammad Nauman, Zahid, Naila, Soomro, Rufina, Ullah, Najeeb Niamat, Ahmad, Imran, Haider, Ghulam, Ansari, Uzair, Rizvi, Arjumand, Mehboobali, Arif, Sattar, Abida
Breast cancer is the most common malignancy in women, affecting over 1.5 million women every year, which accounts for the highest number of cancer-related deaths in women globally. Hereditary breast cancer (HBC), an important subset of breast cancer, accounts for 5–10% of total cases. However, in Low Middle-Income Countries (LMICs), the population-specific risk of HBC in different ethnicities and the
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Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-06-13 Loh, Jerold, Ong, Pei Yi, Goh, Denise Li Meng, Puhaindran, Mark E., Vellayappan, Balamurugan A., Ow, Samuel Guan Wei, Chan, Gloria, Lee, Soo-Chin
Peripheral Nerve Sheath Tumors (PNST) are a diverse group of mostly benign tumours uncommon in the general population. About 5–10% of PNSTs are hereditary, predominantly arising from germline variants in NF1, NF2, SMARCB1, or LZTR1 gene. We reviewed the clinical characteristics and genetic testing results of patients referred to the NCIS Adult Cancer Genetics Clinic for suspected hereditary PNST. 3
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Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-06-10 Mittendorf, Kathleen F., Lewis, Hannah S., Duenas, Devan M., Eubanks, Donna J., Gilmore, Marian J., Goddard, Katrina A. B., Joseph, Galen, Kauffman, Tia L., Kraft, Stephanie A., Lindberg, Nangel M., Reyes, Ana A., Shuster, Elizabeth, Syngal, Sapna, Ukaegbu, Chinedu, Zepp, Jamilyn M., Wilfond, Benjamin S., Porter, Kathryn M.
Risk assessment for hereditary cancer syndromes is recommended in primary care, but family history is rarely collected in enough detail to facilitate risk assessment and referral – a roadblock that disproportionately impacts individuals with healthcare access barriers. We sought to qualitatively assess a literacy-adapted, electronic patient-facing family history tool developed for use in diverse, underserved
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Beyond the pill: contraception and the prevention of hereditary ovarian cancer Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-06-06 Xia, Yue Yin, Kotsopoulos, Joanne
BRCA1 and BRCA2 mutation carriers face an elevated lifetime risk of developing ovarian cancer. Oral contraceptives have been shown to significantly decrease the risk of ovarian cancer by approximately 50% in this high-risk population. Changes in contraceptive formulations and patterns of use over time have introduced lower hormonal dosages, different steroid types and non-oral routes of administration
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Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-05-30 Wong-Brown, Michelle, McPhillips, Mary, Gleeson, Margaret, Spigelman, Allan D., Meldrum, Cliff J., Dooley, Susan, Scott, Rodney J.
Correction: Hered Cancer Clin Pract 14, 6 (2016) https://doi.org/10.1186/s13053-015-0045-y Following publication of the original article [1], it was identified that on page 4 of 7, in the results section, the exon number should be 9 not 10 as written. We apologize for any inconvenience this may have caused. Wong-Brown M, McPhillips M, Gleeson M, et al. When is a mutation not a mutation: the case of
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Statewide trends and factors associated with genetic testing for hereditary cancer risk in Arkansas 2013–2018 Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-05-23 Acharya, Mahip, Zorn, Kristin K., Simonson, Melinda E., Bimali, Milan, Moore, Gary W., Peng, Cheng, Martin, Bradley C.
Early identification of hereditary cancer risk would save lives, but genetic testing (GT) has been inadequate. We assessed i) trends for hereditary breast and ovarian cancer (HBOC), Lynch syndrome, and other GT and ii) factors associated with receipt of GT. We used data from the Arkansas All-Payer Claims Database from January 2013 through June 2018 (commercial, Medicaid), December 2017 (state employee)
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Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-05-04 Steinberg, Julia, Chan, Priscilla, Hogden, Emily, Tiernan, Gabriella, Morrow, April, Kang, Yoon-Jung, He, Emily, Venchiarutti, Rebecca, Titterton, Leanna, Sankey, Lucien, Pearn, Amy, Nichols, Cassandra, McKay, Skye, Hayward, Anne, Egoroff, Natasha, Engel, Alexander, Gibbs, Peter, Goodwin, Annabel, Harris, Marion, Kench, James G, Pachter, Nicholas, Parkinson, Bonny, Pockney, Peter, Ragunathan, Abiramy
To inform effective genomic medicine strategies, it is important to examine current approaches and gaps in well-established applications. Lynch syndrome (LS) causes 3–5% of colorectal cancers (CRCs). While guidelines commonly recommend LS tumour testing of all CRC patients, implementation in health systems is known to be highly variable. To provide insights on the heterogeneity in practice and current
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Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-04-18 Crain, Philip R., Zepp, Jamilyn M., Gille, Sara, Jenkins, Lindsay, Kauffman, Tia L., Shuster, Elizabeth, Goddard, Katrina A.B., Wilfond, Benjamin S., Hunter, Jessica Ezzell
Lynch syndrome (LS) is associated with an increased risk of colorectal (CRC) and endometrial (EC) cancers. Universal tumor screening (UTS) of all individuals diagnosed with CRC and EC is recommended to increase identification of LS. Kaiser Permanente Northwest (KPNW) implemented a UTS program for LS among individuals newly diagnosed with CRC in January 2016 and EC in November 2016. UTS at KPNW begins
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CMMRD caused by PMS1 mutation in a sudanese consanguineous family Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-04-15 Hamad, Reem S., Ibrahim, Muntaser E.
A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype.
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Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think? Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-04-13 McCuaig, Jeanna M., Ferguson, Sarah E., Vicus, Danielle, Ott, Karen, Stockley, Tracy L., Kim, Raymond H., Metcalfe, Kelly A.
Reflex (automatic) BRCA1 and BRCA2 (BRCA1/2) genetic testing of tumour tissue is being completed for all newly diagnosed high-grade serous ovarian cancer (HGSOC) in the province of Ontario, Canada. The objective of this study was to measure the psychological impact of tumour genetic testing among individuals with a new diagnosis of HGSOC. Participants had a new diagnosis of HGSOC and received reflex
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Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-04-13 Park, Sarah Sohyun, Uzelac, Aleksandra, Kotsopoulos, Joanne
Women with a pathogenic germline mutation in the BRCA1 gene face a very high lifetime risk of developing breast cancer, estimated at 72% by age 80. Prophylactic bilateral mastectomy is the only effective way to lower their risk; however, most women with a mutation opt for intensive screening with annual MRI and mammography. Given that the BRCA1 gene was identified over 20 years ago, there is a need
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Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-04-08 Złowocka-Perłowska, Elżbieta, Tołoczko-Grabarek, Aleksandra, Narod, Steven A., Lubiński, Jan
The role of the BRCA1 and BRCA2 genes in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of specific founder mutations genes BRCA1 (5328 insC, C61G and 4153 delA) and BRCA2 (C5972T) mutations in bladder and kidney cancer patients from Poland. We genotyped 1028 patients with bladder cancer and 688 cases with kidney cancer and two control groups. A BRCA1 mutation
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Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-04-05 Jasiewicz, Andrzej, Rudnicka, Helena, Kluźniak, Wojciech, Gronwald, Wojciech, Kluz, Tomasz, Cybulski, Cezary, Jakubowska, Anna, Lubiński, Jan, Gronwald, Jacek
Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of Podkarpacie (South-East Poland) carry BRCA1 causative founder variants, which is significantly lower than in other regions of Poland. Therefore, it is deeply justified to do research based on
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Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor Hered. Cancer Clin. Pract. (IF 1.7) Pub Date : 2022-03-21 Ogrodniczak, Alicja, Menkiszak, Janusz, Gronwald, Jacek, Tomiczek-Szwiec, Joanna, Szwiec, Marek, Cybulski, Cezary, Dębniak, Tadeusz, Huzarski, Tomasz, Tołoczko-Grabarek, Aleksandra, Byrski, Tomasz, Białkowska, Katarzyna, Prajzendanc, Karolina, Baszuk, Piotr, Lubiński, Jan, Jakubowska, Anna
There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This study determined the prevalence and association of mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 with the risk of BOTs. The study group consisted of 102 patients with histologically confirmed