Publications:

---

Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications

Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J

Publication Date: 2022-10

Variant appearance in text: CDKN2A: 379G>C; A127P

PubMed Link: 36969747

Variant Present in the following documents:

• crc-22-0258-s08.xlsx, sheet 1

View BVdb publication page

---

Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.

Esmo Open

Bruno, W W; Dalmasso, B B; Barile, M M; Andreotti, V V; Elefanti, L L; Colombino, M M; Vanni, I I; Allavena, E E; Barbero, F F; Passoni, E E; Merelli, B B; Pellegrini, S S; Morgese, F F; Danesi, R R; Calò, V V; Bazan, V V; D'Elia, A V AV; Molica, C C; Gensini, F F; Sala, E E; Uliana, V V; Soma, P F PF; Genuardi, M M; Ballestrero, A A; Spagnolo, F F; Tanda, E E; Queirolo, P P; Mandalà, M M; Stanganelli, I I; Palmieri, G G; Menin, C C; , ; Pastorino, L L; Ghiorzo, P P

Publication Date: 2022-08

Variant appearance in text: CDKN2A: Ala127Pro

PubMed Link: 35777164

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.

Elife

Kimura, Hirokazu H; Paranal, Raymond M RM; Nanda, Neha N; Wood, Laura D LD; Eshleman, James R JR; Hruban, Ralph H RH; Goggins, Michael G MG; Klein, Alison P AP; Roberts, Nicholas Jason NJ

Publication Date: 2022-01-10

Variant appearance in text: CDKN2A: 379G>C; Ala127Pro

PubMed Link: 35001868

Variant Present in the following documents:

• Main text
• elife-71137.pdf
• elife-71137-supp3.xlsx, sheet 1
• elife-71137-supp1.xlsx, sheet 1

View BVdb publication page

---

Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.

Elife

Kimura, Hirokazu H; Paranal, Raymond M RM; Nanda, Neha N; Wood, Laura D LD; Eshleman, James R JR; Hruban, Ralph H RH; Goggins, Michael G MG; Klein, Alison P AP; , ; Roberts, Nicholas J NJ

Publication Date: 2022-01-10

Variant appearance in text: CDKN2A: 379G>C; Ala127Pro

PubMed Link: 35001868

Variant Present in the following documents:

• Main text
• elife-71137.pdf
• elife-71137-supp3.xlsx, sheet 1
• elife-71137-supp1.xlsx, sheet 1

View BVdb publication page

---

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

European Journal Of Human Genetics : Ejhg

Fokkema, Ivo F A C IFAC; Kroon, Mark M; López Hernández, Julia A JA; Asscheman, Daan D; Lugtenburg, Ivar I; Hoogenboom, Jerry J; den Dunnen, Johan T JT

Publication Date: 2021-12

Variant appearance in text: CDKN2A: 379G>C; Ala127Pro

PubMed Link: 34521998

Variant Present in the following documents:

• 41431_2021_959_MOESM3_ESM.pdf

View BVdb publication page

---

Long-term disease control and survival observed after stereotactic ablative body radiotherapy for oligometastatic breast cancer.

Cancer Medicine

Wijetunga, N Ari NA; Dos Anjos, Carlos H CH; Zhi, W Iris WI; Robson, Mark M; Tsai, C Jillian CJ; Yamada, Yoshiya Y; Dover, Laura L; Gillespie, Erin F EF; Xu, Amy J AJ; Yang, Jonathan T JT

Publication Date: 2021-08

Variant appearance in text: rs6413464

PubMed Link: 34159748

Variant Present in the following documents:

• CAM4-10-5163-s001.xlsx, sheet 8

View BVdb publication page

---

CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.

Hereditary Cancer In Clinical Practice

Chan, Sock Hoai SH; Chiang, Jianbang J; Ngeow, Joanne J

Publication Date: 2021-03-25

Variant appearance in text: ARF: 379G>C

PubMed Link: 33766116

Variant Present in the following documents:

• Main text
• 13053_2021_Article_178.pdf

View BVdb publication page

---

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: CDKN2A: 379G>C; A127P

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Ebiomedicine

Liu, Xiaoyu X; Liu, Lingxiao L; Ji, Yuan Y; Li, Changyu C; Wei, Tao T; Yang, Xuerong X; Zhang, Yuefang Y; Cai, Xuyu X; Gao, Yangbin Y; Xu, Weihong W; Rao, Shengxiang S; Jin, Dayong D; Lou, Wenhui W; Qiu, Zilong Z; Wang, Xiaolin X

Publication Date: 2019-03

Variant appearance in text: rs6413464

PubMed Link: 30857943

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.

Familial Cancer

Levin, Trine T; Mæhle, Lovise L

Publication Date: 2017-04

Variant appearance in text: CDKN2A: Ala127Pro

PubMed Link: 27804060

Variant Present in the following documents:

• Main text
• 10689_2016_Article_9939.pdf

View BVdb publication page

---