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  • Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue
    Fam. Cancer (IF 2.209) Pub Date : 2020-05-26
    Valeriya I. Ni, Alexandr O. Ivantsov, Mariya A. Kotkova, Sofia V. Baskina, Elena V. Ponomareva, Rashida V. Orlova, Eldar E. Topuzov, Kirill K. Kryukov, Kseniya V. Shelekhova, Svetlana N. Aleksakhina, Anna P. Sokolenko, Evgeny N. Imyanitov

    A recent study suggested a role of CHEK2 loss-of-function germ-line pathogenic variants in the predisposition to testicular cancer (TC) (AlDubayan et al. JAMA Oncol 5:514–522, 2019). We attempted to validate this finding relying on the high population frequency of recurrent CHEK2 pathogenic variants in Slavic populations. CHEK2 pathogenic alleles (c.1100delC (p.Thr367Metfs); del5395 [del ex9-10]; IVS2 + 1G > A

    更新日期:2020-05-26
  • Low accuracy of self-reported family history of melanoma in high-risk patients.
    Fam. Cancer (IF 2.209) Pub Date : 2020-05-21
    Nicholas D Flint,Michael D Bishop,Tristan C Smart,Jennifer L Strunck,Kenneth M Boucher,Douglas Grossman,Aaron M Secrest

    Family history of melanoma is a major melanoma risk factor. However, self-reported family histories for some cancers, including melanoma, are commonly inaccurate. We used a unique database, the Utah Population Database (UPDB), as well as the Utah Cancer Registry to determine the accuracy of self-reported family history of melanoma in a large cohort of high-risk patients. Patient charts were reviewed

    更新日期:2020-05-21
  • Women's responses and understanding of polygenic breast cancer risk information.
    Fam. Cancer (IF 2.209) Pub Date : 2020-05-20
    T Yanes,R Kaur,B Meiser,M Scheepers-Joynt,S McInerny,K Barlow-Stewart,Y Antill,L Salmon,C Smyth,P A James,M A Young

    It is estimated that polygenic factors can explain up to 18% of familial breast cancer. Clinical implementation of polygenic testing has begun, with several commercial laboratories now testing. Despite commercial implementation, there is little research investigating how women respond and understand polygenic risk information. This study aimed to explore women's experience receiving their personalised

    更新日期:2020-05-20
  • Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.
    Fam. Cancer (IF 2.209) Pub Date : 2020-05-13
    Eliza Courtney,Sock Hoai Chan,Shao Tzu Li,Diana Ishak,Khurshid Merchant,Tarryn Shaw,Wen Yee Chay,Felicia Hui Xian Chin,Wai Loong Wong,Adele Wong,Joanne Ngeow

    Neurofibromatosis type 1 (NF1) is a multisystem disorder caused by germline heterozygous NF1 loss-of-function variants. The NF1 gene encodes neurofibromin, a RAS GTPase-activating protein, which functions by down-regulating RAS/RAF/MAPK-signalling pathways. Somatic NF1 aberrations frequently occur in sporadic ovarian cancer (OC), but the incidence of OC in NF1 patients is rare. Here we report the germline

    更新日期:2020-05-13
  • Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics.
    Fam. Cancer (IF 2.209) Pub Date : 2020-05-09
    B Meiser,R Kaur,J Kirk,A Morrow,M Peate,W K T Wong,E McPike,E Cops,C Dowson,R Austin,M Fine,L Thrupp,R Ward,F Macrae,J E Hiller,A H Trainer,G Mitchell,

    INTRODUCTION This nationwide study assessed the impact of Lynch syndrome-related risk management guidelines on clinicians' recommendations of risk management strategies to carriers of pathogenic variants in mismatch repair genes and the extent to which carriers took up strategies in concordance with guidelines. MATERIALS AND METHODS Clinic files of 464 carriers (with and without colorectal cancer)

    更新日期:2020-05-09
  • MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
    Fam. Cancer (IF 2.209) Pub Date : 2020-05-04
    Tamara Alejandra Piñero,Omar Soukarieh,Marion Rolain,Karin Alvarez,Francisco López-Köstner,Giovana Tardin Torrezan,Dirce Maria Carraro,Ivana Lucia De Oliveira Nascimento,Thaís Ferreira Bomfim,Taísa Manuela Bonfim Machado-Lopes,Juliana Côrtes Freitas,Maria Betânia Toralles,Kiyoko Abe Sandes,Benedito Mauro Rossi,Samuel Aguiar Junior,Joanna Meira,Mev Dominguez-Valentin,Pål Møller,Carlos Alberto Vaccaro

    Germline pathogenic variants in the DNA mismatch repair genes (MMR): MLH1, MSH2, MSH6, and PMS2, are causative of Lynch syndrome (LS). However, many of the variants mapping outside the invariant splice site positions (IVS ± 1, IVS ± 2) are classified as variants of unknown significance (VUS). Three such variants (MLH1 c.588+5G>C, c.588+5G>T and c.677+5G>A) were identified in 8 unrelated LS families

    更新日期:2020-05-04
  • Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome.
    Fam. Cancer (IF 2.209) Pub Date : 2020-04-30
    S A Nieuwenburg,F Adan,M W G Ruijs,G S Sonke,M E van Leerdam,M B Crijns

    Li-Fraumeni syndrome (LFS) is an inherited cancer syndrome, characterized by an early onset of various types of cancers. LFS is associated with a germline mutation in the TP53 gene. The risk of developing skin cancer in patients with LFS is unknown. To evaluate the cumulative risk of skin cancer in patients with LFS and to compare this risk to the general Dutch population. In this retrospective cohort

    更新日期:2020-04-30
  • Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family.
    Fam. Cancer (IF 2.209) Pub Date : 2020-04-30
    Ciyu Yang,Margaret Sheehan,Ester Borras,Karen Cadoo,Kenneth Offit,Liying Zhang

    Germline mutations in the DNA mismatch repair (MMR) genes cause Lynch syndrome. Classification and interpretation of intronic variants, especially those outside the consensus ± 1 ~ 2 splice sites are challenging as it is uncertain whether such variants would affect splicing accuracy and efficiency. The assessment of the pathogenicity of splice site variants in MLH1 is further complicated by the various

    更新日期:2020-04-30
  • Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report.
    Fam. Cancer (IF 2.209) Pub Date : 2020-04-24
    Giovanni Grandi,Martina Caroli,Carlo Alboni,Laura Cortesi,Angela Toss,Elena Barbieri,Laura Botticelli,Fabio Facchinetti

    Some hereditary ovarian cancer cases can be associated with a mutation of a gene involved in the DNA double-strand break repair system other than BRCA, such as BRIP1. This mutation is an emerging indication for prophylactic risk-reducing salpingo-oophorectomy (RRSO): however, anomalous tubal pathologic lesions have not yet been reported during RRSO performed for this specific indication (BRIP1), as

    更新日期:2020-04-24