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  1. Lynch syndrome is the most common cause of hereditary colorectal and endometrial cancer. Lifestyle modification may provide an opportunity for adjunctive cancer prevention. In this study, we aimed to character...

    Authors: Robert F. Power, Damien E. Doherty, Roberta Horgan, Pat Fahey, David J. Gallagher, Maeve A. Lowery and Karen A. Cadoo
    Citation: Hereditary Cancer in Clinical Practice 2024 22:10
  2. Development of sequential changes of mucous leading to gastric cancer and familial cases of gastric cancer of intestinal type is widely connected with Helicobacter pylori infections. In this study we analysed var...

    Authors: Andrzej Hnatyszyn, Marlena Szalata, Aleksandra Zielińska, Karolina Wielgus, Mikołaj Danielewski, Piotr Tomasz Hnatyszyn, Andrzej Pławski, Jarosław Walkowiak and Ryszard Słomski
    Citation: Hereditary Cancer in Clinical Practice 2024 22:9
  3. Current National Comprehensive Cancer Network ® (NCCN ®) guidelines for Colorectal Genetic/Familial High-Risk Assessment provide limited guidance for genetic testing for individuals with already diagnosed here...

    Authors: Annmarie Taheny, Haylie McSwaney and Julia Meade
    Citation: Hereditary Cancer in Clinical Practice 2024 22:8
  4. It has not been clearly established if skin cancer or melanoma are manifestations of BRCA1 or BRCA2 mutation carrier status. Estimating the risk of skin cancer is an important step towards developing screening re...

    Authors: Steven A. Narod, Kelly Metcalfe, Amy Finch, An-Wen Chan, Susan Randall Armel, Amber Aeilts, Andrea Eisen, Beth Karlan, Louise Bordeleau, Nadine Tung, William D. Foulkes, Susan L. Neuhausen, Charis Eng, Olufunmilayo Olopade, Dana Zakalik, Fergus Couch…
    Citation: Hereditary Cancer in Clinical Practice 2024 22:7
  5. Colorectal cancers (CRCs) in the Lynch syndromes have been assumed to emerge through an accelerated adenoma-carcinoma pathway. In this model adenomas with deficient mismatch repair have an increased probabilit...

    Authors: Pål Møller, Saskia Haupt, Aysel Ahadova, Matthias Kloor, Julian R. Sampson, Lone Sunde, Toni Seppälä, John Burn, Inge Bernstein, Gabriel Capella, D. Gareth Evans, Annika Lindblom, Ingrid Winship, Finlay Macrae, Lior Katz, Ido Laish…
    Citation: Hereditary Cancer in Clinical Practice 2024 22:6
  6. Risk-reducing gynecological surgery (RRGS) is a prophylactic procedure that may be offered to BRCA1, BRCA2, and Lynch syndrome (LS) mutation carriers to reduce the risk of developing gynecological cancer. This...

    Authors: Lucy Zhao, Lorrie Lynch and Lua Eiriksson
    Citation: Hereditary Cancer in Clinical Practice 2024 22:5
  7. 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-Fraume...

    Authors: Akihiro Ohmoto, Naomi Hayashi, Shunji Takahashi and Arisa Ueki
    Citation: Hereditary Cancer in Clinical Practice 2024 22:4
  8. Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutaneous macules and multiple gastrointestinal hamartomatous polyps. Gastric-type endocervic...

    Authors: Liwen Yang, Duan Duan, Ying Xiong, Tianjiao Liu, Lijun Zhao, Fan Lai, Dingxian Gu and Liuying Zhou
    Citation: Hereditary Cancer in Clinical Practice 2024 22:3
  9. 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...

    Authors: Hua Yuan, Rong Zhang, Ning Li and Hongwen Yao
    Citation: Hereditary Cancer in Clinical Practice 2024 22:2
  10. 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 fun...

    Authors: Juan Pablo Arango-Ibañez, Luis Gabriel Parra-Lara, Ángela R. Zambrano and Lisa Ximena Rodríguez-Rojas
    Citation: Hereditary Cancer in Clinical Practice 2024 22:1
  11. 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 surv...

    Authors: Ryan Mooney, Yelena P. Wu, Kelsey Kehoe, Molly Volkmar, Wendy Kohlmann, Cathryn Koptiuch and Kimberly A Kaphingst
    Citation: Hereditary Cancer in Clinical Practice 2023 21:28
  12. 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 varia...

    Authors: Kimberley Cao, John-Paul Plazzer and Finlay Macrae
    Citation: Hereditary Cancer in Clinical Practice 2023 21:27
  13. 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....

    Authors: Hiroko Nakahira, Yoji Takeuchi, Yusaku Shimamoto, Shingo Ishiguro, Hiroshi Yunokizaki, Yasumasa Ezoe, Fumie Fujisawa, Ryu Ishihara, Tetsuji Takayama, Teruhiko Yoshida, Michihiro Mutoh and Hideki Ishikawa
    Citation: Hereditary Cancer in Clinical Practice 2023 21:25
  14. 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-relate...

    Authors: 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 and Jessica Ezzell Hunter
    Citation: Hereditary Cancer in Clinical Practice 2023 21:24
  15. 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 ...

    Authors: Aya Tanaka, Megumi Matsumoto, Mami Takao, Shoko Miura, Yuri Hasegawa, Ryota Otsubo, Hiroko Hayashi, Ichiro Isomoto, Kiyonori Miura and Takeshi Nagayasu
    Citation: Hereditary Cancer in Clinical Practice 2023 21:23
  16. 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 BRCA...

    Authors: Noor Muhammad, Ayesha Azeem, Shumaila Arif, Humaira Naeemi, Iqra Masood, Usman Hassan, Bushra Ijaz, Faisal Hanif, Aamir Ali Syed, Muhammed Aasim Yusuf and Muhammad Usman Rashid
    Citation: Hereditary Cancer in Clinical Practice 2023 21:22
  17. 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 ...

    Authors: Miguel Angel Trujillo-Rojas, María de la Luz Ayala-Madrigal, Melva Gutiérrez-Angulo, Anahí González-Mercado and José Miguel Moreno-Ortiz
    Citation: Hereditary Cancer in Clinical Practice 2023 21:21
  18. 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 a...

    Authors: Suguru Oka, Shinji Urakami, Kiichi Hagiwara, Michikata Hayashida, Kazushige Sakaguchi, Yuji Miura, Naoko Inoshita and Masami Arai
    Citation: Hereditary Cancer in Clinical Practice 2023 21:20
  19. 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...

    Authors: 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…
    Citation: Hereditary Cancer in Clinical Practice 2023 21:19
  20. 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 pa...

    Authors: Bin-bin Li, Hui Zheng, Yi-Dan Lou, Wen-Wei Zhang and Song Zheng
    Citation: Hereditary Cancer in Clinical Practice 2023 21:18
  21. 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 ...

    Authors: Tracy Lowe, Jane DeLuca, Ludovico Abenavoli and Luigi Boccuto
    Citation: Hereditary Cancer in Clinical Practice 2023 21:17
  22. 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, includ...

    Authors: M. F. Broekema, E. J. W. Redeker, M. T. Uiterwaal and L. P. van Hest
    Citation: Hereditary Cancer in Clinical Practice 2023 21:16
  23. 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...

    Authors: Kaylee A. Underkofler, Martha H. Thomas, Christina J. Taylor, Christa L. Mazur, Sarah H. Erickson and Kari L. Ring
    Citation: Hereditary Cancer in Clinical Practice 2023 21:15
  24. : 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 ap...

    Authors: Kyota Tatsuta, Mayu Sakata, Moriya Iwaizumi, Risa Kojima, Katsumasa Yamanaka, Satoshi Baba, Katsunori Suzuki, Yoshifumi Morita, Hirotoshi Kikuchi, Yoshihiro Hiramatsu, Kiyotaka Kurachi and Hiroya Takeuchi
    Citation: Hereditary Cancer in Clinical Practice 2023 21:14
  25. 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 introduct...

    Authors: Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska and Slavena Enkova Nikolova
    Citation: Hereditary Cancer in Clinical Practice 2023 21:13
  26. 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 v...

    Authors: M. E. Papadopulos, J. P. Plazzer and F. A. Macrae
    Citation: Hereditary Cancer in Clinical Practice 2023 21:12
  27. 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 ef...

    Authors: Olfat Ahmad, Christian Sutter, Steffen Hirsch, Stefan M. Pfister and Christian P. Schaaf
    Citation: Hereditary Cancer in Clinical Practice 2023 21:11
  28. 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 BRCA...

    Authors: Jacek Gronwald, Cezary Cybulski, Tomasz Huzarski, Anna Jakubowska, Tadeusz Debniak, Marcin Lener, Steven A Narod and Jan Lubinski
    Citation: Hereditary Cancer in Clinical Practice 2023 21:9
  29. 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 cel...

    Authors: Anna Byrjalsen, Anna Engell Brainin, Thomas Kromann Lund, Mette Klarskov Andersen and Anne Marie Jelsig
    Citation: Hereditary Cancer in Clinical Practice 2023 21:7
  30. 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.

    Authors: Samantha Williams, Jessica E. Ebrahimzadeh, Daniel Clay, Gillian Constantino, Jordan Heiman, Kirk J. Wangensteen, Kathleen Valverde, Nadim Mahmud and Bryson W. Katona
    Citation: Hereditary Cancer in Clinical Practice 2023 21:6
  31. 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 Serv...

    Authors: Zewen Zhang, Nur Diana Binte Ishak, Frances Victoria Fajardo Que, Zi Yang Chua, Sock Hoai Chan, Jianbang Chiang and Joanne Ngeow Yuen Yie
    Citation: Hereditary Cancer in Clinical Practice 2023 21:5
  32. 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.

    Authors: Elina Sivina, Lubova Blumberga, Gunta Purkalne and Arvids Irmejs
    Citation: Hereditary Cancer in Clinical Practice 2023 21:4
  33. 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 ...

    Authors: Sergio Carrera, Ana Belén Rodríguez-Martínez, Intza Garin, Esther Sarasola, Cristina Martínez, Hiart Maortua, Almudena Callejo, Abigail Ruiz de Lobera, Alberto Muñoz, Nagore Miñambres and Pablo Jiménez-Labaig
    Citation: Hereditary Cancer in Clinical Practice 2023 21:2
  34. 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 centur...

    Authors: Olfat Ahmad and Asta Försti
    Citation: Hereditary Cancer in Clinical Practice 2023 21:1
  35. 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 mastectom...

    Authors: Julia Dick, Anja Tüchler, Anne Brédart, Frank Vitinius, Kirsten Wassermann, Kerstin Rhiem and Rita K. Schmutzler
    Citation: Hereditary Cancer in Clinical Practice 2022 20:38
  36. 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 part...

    Authors: Pål Møller, Toni Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni…
    Citation: Hereditary Cancer in Clinical Practice 2022 20:36
  37. 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...

    Authors: Rodney J. Scott
    Citation: Hereditary Cancer in Clinical Practice 2022 20:35
  38. 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 chemoth...

    Authors: Olga Caramelo, Cristina Silva, Francisco Caramelo, Cristina Frutuoso, Leonor Pinto and Teresa Almeida-Santos
    Citation: Hereditary Cancer in Clinical Practice 2022 20:34
  39. 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...

    Authors: Kyra Bokkers, Eveline M. A. Bleiker, Jacob P. Hoogendam, Mary E. Velthuizen, Henk W. R. Schreuder, Cornelis G. Gerestein, Joost G. Lange, Jacqueline A. Louwers, Marco J. Koudijs, Margreet G. E. M. Ausems and Ronald P. Zweemer
    Citation: Hereditary Cancer in Clinical Practice 2022 20:33
  40. 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. Ev...

    Authors: B. Speight, E. Colvin, E. D. Epurescu, J. Drummond, S. Verhoef, M. Pereira, D. G. Evans and M. Tischkowitz
    Citation: Hereditary Cancer in Clinical Practice 2022 20:32
  41. 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...

    Authors: Ibrahim H. Shah, Erin E. Salo-Mullen, Kimberly A. Amoroso, David Kelsen, Zsofia K. Stadler and Jada G. Hamilton
    Citation: Hereditary Cancer in Clinical Practice 2022 20:31
  42. 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...

    Authors: Kelly E. Lloyd, Robbie Foy, Louise H. Hall, Lucy Ziegler, Sophie M. C. Green, Zainab F. Haider, David G. Taylor, Mairead MacKenzie and Samuel G. Smith
    Citation: Hereditary Cancer in Clinical Practice 2022 20:30
  43. 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) ...

    Authors: Fatima Zahra El Ansari, Farah Jouali, Rim Fekkak, Joaira Bakkach, Naima Ghailani Nourouti, Amina Barakat, Mohcine Bennani Mechita and Jamal Fekkak
    Citation: Hereditary Cancer in Clinical Practice 2022 20:29
  44. 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 chall...

    Authors: Sowmya Jonnagadla, Sharelle L. Joseland, Sibel Saya, Nicole den Elzen, Joanne Isbister, Ingrid M. Winship and Daniel D. Buchanan
    Citation: Hereditary Cancer in Clinical Practice 2022 20:27

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