Literature DB >> 25524463

Skin cancer risk in BRCA1/2 mutation carriers.

P V Gumaste1, L A Penn1, R M Cymerman1, T Kirchhoff2, D Polsky1, B McLellan1.   

Abstract

Women with BRCA1/2 mutations have an elevated risk of breast and ovarian cancer. These patients and their clinicians are often concerned about their risk for other cancers, including skin cancer. Research evaluating the association between BRCA1/2 mutations and skin cancer is limited and has produced inconsistent results. Herein, we review the current literature on the risk of melanoma and nonmelanoma skin cancers in BRCA1/2 mutation carriers. No studies have shown a statistically significant risk of melanoma in BRCA1 families. BRCA2 mutations have been linked to melanoma in large breast and ovarian cancer families, though a statistically significant elevated risk was reported in only one study. Five additional studies have shown some association between BRCA2 mutations and melanoma, while four studies did not find any association. With respect to nonmelanoma skin cancers, studies have produced conflicting results. Given the current state of medical knowledge, there is insufficient evidence to warrant increased skin cancer surveillance of patients with a confirmed BRCA1/2 mutation or a family history of a BRCA1/2 mutation, in the absence of standard risk factors. Nonetheless, suspected BRCA1/2 mutation carriers should be counselled about skin cancer risks and may benefit from yearly full skin examinations.
© 2014 British Association of Dermatologists.

Entities:  

Mesh:

Year:  2015        PMID: 25524463      PMCID: PMC5785081          DOI: 10.1111/bjd.13626

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  57 in total

1.  Deficiency of human BRCA2 leads to impaired homologous recombination but maintains normal nonhomologous end joining.

Authors:  F Xia; D G Taghian; J S DeFrank; Z C Zeng; H Willers; G Iliakis; S N Powell
Journal:  Proc Natl Acad Sci U S A       Date:  2001-07-10       Impact factor: 11.205

2.  A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO.

Authors:  D G R Evans; D M Eccles; N Rahman; K Young; M Bulman; E Amir; A Shenton; A Howell; F Lalloo
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

3.  BRCA1 deficient embryonic stem cells display a decreased homologous recombination frequency and an increased frequency of non-homologous recombination that is corrected by expression of a brca1 transgene.

Authors:  J N Snouwaert; L C Gowen; A M Latour; A R Mohn; A Xiao; L DiBiase; B H Koller
Journal:  Oncogene       Date:  1999-12-20       Impact factor: 9.867

4.  BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers.

Authors:  H A Shih; K L Nathanson; S Seal; N Collins; M R Stratton; T R Rebbeck; B L Weber
Journal:  Clin Cancer Res       Date:  2000-11       Impact factor: 12.531

5.  Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancer.

Authors:  J Jonkers; R Meuwissen; H van der Gulden; H Peterse; M van der Valk; A Berns
Journal:  Nat Genet       Date:  2001-12       Impact factor: 38.330

6.  Second nonbreast malignancies after conservative surgery and radiation therapy for early-stage breast cancer.

Authors:  Sharon Galper; Rebecca Gelman; Abram Recht; Barbara Silver; Anita Kohli; Julia S Wong; Teresa Van Buren; Elizabeth H Baldini; Jay R Harris
Journal:  Int J Radiat Oncol Biol Phys       Date:  2002-02-01       Impact factor: 7.038

Review 7.  Cancer susceptibility and the functions of BRCA1 and BRCA2.

Authors:  Ashok R Venkitaraman
Journal:  Cell       Date:  2002-01-25       Impact factor: 41.582

8.  Cancer Incidence in BRCA1 mutation carriers.

Authors:  Deborah Thompson; Douglas F Easton
Journal:  J Natl Cancer Inst       Date:  2002-09-18       Impact factor: 13.506

9.  Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program.

Authors:  Marcia S Brose; Timothy R Rebbeck; Kathleen A Calzone; Jill E Stopfer; Katherine L Nathanson; Barbara L Weber
Journal:  J Natl Cancer Inst       Date:  2002-09-18       Impact factor: 13.506

10.  On the use of familial aggregation in population-based case probands for calculating penetrance.

Authors:  Colin B Begg
Journal:  J Natl Cancer Inst       Date:  2002-08-21       Impact factor: 13.506

View more
  16 in total

1.  The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program.

Authors:  A E Bunnell; C A Garby; E J Pearson; S A Walker; L E Panos; Joanne L Blum
Journal:  J Genet Couns       Date:  2016-06-09       Impact factor: 2.537

2.  Transcriptional Pathways Altered in Response to Vibration in a Model of Hand-Arm Vibration Syndrome.

Authors:  Stacey Waugh; Michael L Kashon; Shengqiao Li; Gerome R Miller; Claud Johnson; Kristine Krajnak
Journal:  J Occup Environ Med       Date:  2016-04       Impact factor: 2.162

3.  Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment.

Authors:  Leigh A Baumgart; Kristen J Vogel Postula; William A Knaus
Journal:  Fam Cancer       Date:  2016-04       Impact factor: 2.375

4.  Systemic Effects of Segmental Vibration in an Animal Model of Hand-Arm Vibration Syndrome.

Authors:  Kristine Krajnak; Stacy Waugh
Journal:  J Occup Environ Med       Date:  2018-10       Impact factor: 2.162

5.  "I Am Uncertain About What My Uncertainty Even Is": Men's Uncertainty and Information Management of Their BRCA-Related Cancer Risks.

Authors:  Emily A Rauscher; Marleah Dean; Gemme M Campbell-Salome
Journal:  J Genet Couns       Date:  2018-07-03       Impact factor: 2.537

6.  Genome-wide mutation profiling and related risk signature for prognosis of papillary renal cell carcinoma.

Authors:  Chuanjie Zhang; Yuxiao Zheng; Xiao Li; Xin Hu; Feng Qi; Jun Luo
Journal:  Ann Transl Med       Date:  2019-09

Review 7.  Ichthyosis with confetti: clinics, molecular genetics and management.

Authors:  Liliana Guerra; Andrea Diociaiuti; May El Hachem; Daniele Castiglia; Giovanna Zambruno
Journal:  Orphanet J Rare Dis       Date:  2015-09-17       Impact factor: 4.123

8.  Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.

Authors:  Raffaele Palmirotta; Domenica Lovero; Luigia Stefania Stucci; Erica Silvestris; Davide Quaresmini; Angela Cardascia; Franco Silvestris
Journal:  Int J Mol Sci       Date:  2018-01-18       Impact factor: 5.923

9.  Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutation

Authors:  Jennyfer Benavides; Jonh Suárez; Ana Estrada; Mábel Bohórquez; Carolina Ramírez; Justo Olaya; Yesid Sánchez; Gilbert Mateus; Luis Carvajal; María Magdalena Echeverry
Journal:  Biomedica       Date:  2020-03-01       Impact factor: 0.935

10.  BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.

Authors:  Tadeusz Dębniak; Rodney J Scott; Bohdan Górski; Bartłomiej Masojć; Andrzej Kram; Romuald Maleszka; Cezary Cybulski; Katarzyna Paszkowska-Szczur; Aniruddh Kashyap; Dawid Murawa; Karolina Malińska; Magdalena Kiedrowicz; Emilia Rogoża-Janiszewska; Helena Rudnicka; Jakub Deptuła; Paweł Domagała; Wojciech Kluźniak; Marcin R Lener; Jan Lubiński
Journal:  PLoS One       Date:  2018-10-04       Impact factor: 3.240

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.