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- W3136202812 abstract "Abstract Although CDKN2A is well-known as a susceptibility gene for melanoma and pancreatic cancer, germline variants have also been anecdotally associated with a broader range of neoplasms including neural system tumors, head and neck squamous cell carcinomas, breast carcinomas, as well as sarcomas. The CDKN2A gene encodes for two distinct tumor suppressor proteins, p16 INK4A and p14 ARF , however, the independent association of germline alterations affecting these two proteins with cancer is under-appreciated. Here, we reviewed CDKN2A germline alterations reported among individuals and families with cancer in the literature, specifically addressing the cancer phenotypes in relation to the molecular consequence on p16 INK4A and p14 ARF . While melanoma is observed to associate with variants affecting both p16 INK4A and p14 ARF transcripts, it is noted that variants affecting p14 ARF are more frequently observed with a heterogenous range of cancers. Finally, we reflected on the implications of this inferred genotype-phenotype association in clinical practice and proposed that clinical management of CDKN2A germline variant carriers should involve dedicated cancer genetics services, with multidisciplinary input from various healthcare professionals." @default.
- W3136202812 created "2021-03-29" @default.
- W3136202812 creator A5065920111 @default.
- W3136202812 creator A5080120406 @default.
- W3136202812 creator A5080242763 @default.
- W3136202812 date "2021-03-25" @default.
- W3136202812 modified "2023-10-17" @default.
- W3136202812 title "CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition" @default.
- W3136202812 cites W1496235210 @default.
- W3136202812 cites W1539433458 @default.
- W3136202812 cites W1792814537 @default.
- W3136202812 cites W1852944907 @default.
- W3136202812 cites W1946633045 @default.
- W3136202812 cites W1965304382 @default.
- W3136202812 cites W1967103158 @default.
- W3136202812 cites W1968043000 @default.
- W3136202812 cites W1970554397 @default.
- W3136202812 cites W1971512164 @default.
- W3136202812 cites W1971681731 @default.
- W3136202812 cites W1973277018 @default.
- W3136202812 cites W1985550131 @default.
- W3136202812 cites W1986256428 @default.
- W3136202812 cites W1986540282 @default.
- W3136202812 cites W1992197378 @default.
- W3136202812 cites W1992861793 @default.
- W3136202812 cites W2005360563 @default.
- W3136202812 cites W2008616879 @default.
- W3136202812 cites W2020812965 @default.
- W3136202812 cites W2022779163 @default.
- W3136202812 cites W2024191665 @default.
- W3136202812 cites W2027078512 @default.
- W3136202812 cites W2032918048 @default.
- W3136202812 cites W2034408651 @default.
- W3136202812 cites W2038849102 @default.
- W3136202812 cites W2039092246 @default.
- W3136202812 cites W2041827979 @default.
- W3136202812 cites W2047821489 @default.
- W3136202812 cites W2055994735 @default.
- W3136202812 cites W2064678081 @default.
- W3136202812 cites W2066503677 @default.
- W3136202812 cites W2066835097 @default.
- W3136202812 cites W2076384498 @default.
- W3136202812 cites W2079694654 @default.
- W3136202812 cites W2082738737 @default.
- W3136202812 cites W2087791044 @default.
- W3136202812 cites W2089258089 @default.
- W3136202812 cites W2092259915 @default.
- W3136202812 cites W2092965619 @default.
- W3136202812 cites W2096479012 @default.
- W3136202812 cites W2097096041 @default.
- W3136202812 cites W2101160627 @default.
- W3136202812 cites W2104329186 @default.
- W3136202812 cites W2105857063 @default.
- W3136202812 cites W2106621675 @default.
- W3136202812 cites W2108846242 @default.
- W3136202812 cites W2113496553 @default.
- W3136202812 cites W2115628422 @default.
- W3136202812 cites W2119634186 @default.
- W3136202812 cites W2122889044 @default.
- W3136202812 cites W2123178578 @default.
- W3136202812 cites W2123444949 @default.
- W3136202812 cites W2127190793 @default.
- W3136202812 cites W2130477564 @default.
- W3136202812 cites W2130634070 @default.
- W3136202812 cites W2131906164 @default.
- W3136202812 cites W2132030878 @default.
- W3136202812 cites W2133282020 @default.
- W3136202812 cites W2134368004 @default.
- W3136202812 cites W2135686462 @default.
- W3136202812 cites W2136527854 @default.
- W3136202812 cites W2138797163 @default.
- W3136202812 cites W2143201454 @default.
- W3136202812 cites W2167686879 @default.
- W3136202812 cites W2170335597 @default.
- W3136202812 cites W2172049434 @default.
- W3136202812 cites W2198502545 @default.
- W3136202812 cites W220323948 @default.
- W3136202812 cites W2284331904 @default.
- W3136202812 cites W2314541976 @default.
- W3136202812 cites W2326549269 @default.
- W3136202812 cites W2343819130 @default.
- W3136202812 cites W2346066981 @default.
- W3136202812 cites W2546982145 @default.
- W3136202812 cites W2565479307 @default.
- W3136202812 cites W2593766654 @default.
- W3136202812 cites W2594856347 @default.
- W3136202812 cites W2612756106 @default.
- W3136202812 cites W2747786151 @default.
- W3136202812 cites W2767949212 @default.
- W3136202812 cites W2792327545 @default.
- W3136202812 cites W2796208126 @default.
- W3136202812 cites W2801976542 @default.
- W3136202812 cites W2803424509 @default.
- W3136202812 cites W2803439891 @default.
- W3136202812 cites W2809494794 @default.
- W3136202812 cites W2810883871 @default.
- W3136202812 cites W2905214005 @default.
- W3136202812 cites W2965588829 @default.
- W3136202812 cites W2967916319 @default.
- W3136202812 cites W2982364478 @default.