Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

2010 ◽  
Vol 42 (5) ◽  
pp. 410-414 ◽  
Author(s):  
Alfons Meindl ◽  
Heide Hellebrand ◽  
Constanze Wiek ◽  
Verena Erven ◽  
Barbara Wappenschmidt ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Susceptibility ◽  
Human Cancer ◽  
Susceptibility Gene ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer ◽  
Cancer Susceptibility Gene

BRCA1 affects protein phosphatase 6 signalling through its interaction with ANKRD28

2016 ◽  
Vol 473 (7) ◽  
pp. 949-960 ◽  
Author(s):  
Anne Vincent ◽  
Elise Berthel ◽  
Estelle Dacheux ◽  
Clémence Magnard ◽  
Nicole L. Dalla Venezia
Keyword(s):  
Ovarian Cancer ◽  
Protein Phosphatase ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Ankyrin Repeat ◽  
Regulatory Subunit ◽  
Breast And Ovarian Cancer ◽  
Repeat Domain ◽  
Ankyrin Repeat Domain ◽  
Cancer Susceptibility Gene

We report a novel interaction between the tumour suppressor BRCA1 (breast and ovarian cancer-susceptibility gene 1) and the PP6 (protein phosphatase 6) regulatory subunit ANKRD28 (ankyrin repeat domain 28) in the cytoplasm, and further identify BRCA1 as a novel modulator of PP6.

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

Science ◽  
1994 ◽  
Vol 266 (5182) ◽  
pp. 66-71 ◽  
Author(s):  
Y Miki ◽  
J Swensen ◽  
D Shattuck-Eidens ◽  
P. Futreal ◽  
K Harshman ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Breast And Ovarian Cancer ◽  
Strong Candidate ◽  
Cancer Susceptibility Gene

scholarly journals Deleterious Germline Mutations Are a Risk Factor for Neoplastic Progression Among High-Risk Individuals Undergoing Pancreatic Surveillance

2019 ◽  
Vol 37 (13) ◽  
pp. 1070-1080 ◽  
Author(s):  
Toshiya Abe ◽  
Amanda L. Blackford ◽  
Koji Tamura ◽  
Madeline Ford ◽  
Patrick McCormick ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Germline Mutation ◽  
Cancer Susceptibility ◽  
Risk Group ◽  
Susceptibility Gene ◽  
Familial Risk ◽  
Germline Mutations ◽  
Neoplastic Progression ◽  
Cancer Susceptibility Gene

PURPOSE To compare the risk of neoplastic progression by germline mutation status versus family history without a known germline mutation (familial risk) among individuals with an increased risk for pancreatic cancer who are undergoing surveillance. METHODS Of 464 high-risk individuals in the Cancer of the Pancreas Screening program at Johns Hopkins Hospital who were undergoing pancreatic surveillance, 119 had a known deleterious germline mutation in a pancreatic cancer susceptibility gene; 345 met family history criteria for pancreatic surveillance but were not known to harbor a germline mutation. We used next-generation sequencing to identify previously unrecognized germline mutations among these 345 individuals. We compared the development of pancreatic cancer, high-grade dysplasia, or clinically worrisome features, adjusting for competing mortality, among all germline mutation carriers with the risk of progression in a cohort without a known germline mutation. RESULTS Fifteen (4.3%) of 345 individuals classified as having familial risk had a previously unrecognized pancreatic cancer susceptibility gene mutation (nine that involved ATM, two BRCA2, one BRCA1, one PALB2, one TP53, and one CPA1). The cumulative incidence of pancreatic cancer, high-grade dysplasia, or worrisome features on pancreatic imaging was significantly higher in the germline mutation risk group (n = 134) than in the familial risk group (n = 330 [for pancreatic cancer, hazard ratio, 2.85; 95% CI, 1.0 to 8.18; P = .05]). CONCLUSION The cumulative incidence of pancreatic cancer is significantly higher among individuals with an identifiable deleterious germline mutation in a pancreatic cancer susceptibility gene than it is among individuals with a strong family history but no identified mutation. Gene testing of individuals who meet criteria for pancreatic surveillance on the basis of their family history may better define those most at risk for neoplastic progression.

scholarly journals RAD51C – A new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC)

Oral Oncology ◽  
2014 ◽  
Vol 50 (3) ◽  
pp. 196-199 ◽  
Author(s):  
Kathrin Scheckenbach ◽  
Stephan E. Baldus ◽  
Vera Balz ◽  
Marcel Freund ◽  
Petra Pakropa ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Cancer Susceptibility ◽  
Human Cancer ◽  
Susceptibility Gene ◽  
Cancer Susceptibility Gene
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