Publications:

---

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: PALB2: 3350+5G>A; rs587782566

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.

Frontiers In Oncology

Megid, Thais Baccili Cury TBC; Barros-Filho, Mateus C MC; Pisani, Janina Pontes JP; Achatz, Maria Isabel MI

Publication Date: 2022

Variant appearance in text: PALB2: 3350+5G>A

PubMed Link: 36003761

Variant Present in the following documents:

• Main text
• fonc-12-873395.pdf

View BVdb publication page

---

Characterization of rare histological subtypes of ovarian cancer based on molecular profiling.

Cancer Medicine

Takahashi, Nobutaka N; Hatakeyama, Keiichi K; Nagashima, Takeshi T; Ohshima, Keiichi K; Urakami, Kenichi K; Yamaguchi, Ken K; Hirashima, Yasuyuki Y

Publication Date: 2022-06-08

Variant appearance in text: PALB2: 3350+5G>A

PubMed Link: 35676859

Variant Present in the following documents:

• Main text
• CAM4-12-387.pdf

View BVdb publication page

---

Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

The Journal Of Pathology

Valenzuela-Palomo, Alberto A; Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Lorca, Víctor V; Fraile-Bethencourt, Eugenia E; Esteban-Sánchez, Ada A; Gómez-Barrero, Susana S; Carvalho, Sara S; Allen, Jamie J; García-Álvarez, Alicia A; Pérez-Segura, Pedro P; Dorling, Leila L; Easton, Douglas F DF; Devilee, Peter P; Vreeswijk, Maaike Pg MP; de la Hoya, Miguel M; Velasco, Eladio A EA

Publication Date: 2022-03

Variant appearance in text: PALB2: 3350+5G>A

PubMed Link: 34846068

Variant Present in the following documents:

• Main text
• PATH-256-321.pdf

View BVdb publication page

---

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Cancer Research And Treatment

Park, Ji Soo JS; Shin, Saeam S; Lee, Yoon Jung YJ; Lee, Seung-Tae ST; Nam, Eun Ji EJ; Han, Jung Woo JW; Lee, Sun Hwa SH; Kim, Tae Il TI; Park, Hyung Seok HS

Publication Date: 2022-10

Variant appearance in text: PALB2: 3350+5G>A; rs587782566

PubMed Link: 34793666

Variant Present in the following documents:

• crt-2021-978.pdf

View BVdb publication page

---

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.

Npj Precision Oncology

Landrith, Tyler T; Li, Bing B; Cass, Ashley A AA; Conner, Blair R BR; LaDuca, Holly H; McKenna, Danielle B DB; Maxwell, Kara N KN; Domchek, Susan S; Morman, Nichole A NA; Heinlen, Christopher C; Wham, Deborah D; Koptiuch, Cathryn C; Vagher, Jennie J; Rivera, Ragene R; Bunnell, Ann A; Patel, Gayle G; Geurts, Jennifer L JL; Depas, Morgan M MM; Gaonkar, Shraddha S; Pirzadeh-Miller, Sara S; Krukenberg, Rebekah R; Seidel, Meredith M; Pilarski, Robert R; Farmer, Meagan M; Pyrtel, Khateriaa K; Milliron, Kara K; Lee, John J; Hoodfar, Elizabeth E; Nathan, Deepika D; Ganzak, Amanda C AC; Wu, Sitao S; Vuong, Huy H; Xu, Dong D; Arulmoli, Aarani A; Parra, Melissa M; Hoang, Lily L; Molparia, Bhuvan B; Fennessy, Michele M; Fox, Susanne S; Charpentier, Sinead S; Burdette, Julia J; Pesaran, Tina T; Profato, Jessica J; Smith, Brandon B; Haynes, Ginger G; Dalton, Emily E; Crandall, Joy Rae-Radecki JR; Baxter, Ruth R; Lu, Hsiao-Mei HM; Tippin-Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E; Karam, Rachid R

Publication Date: 2020

Variant appearance in text: PALB2: 3350+5G>A

PubMed Link: 32133419

Variant Present in the following documents:

• 41698_2020_109_MOESM1_ESM.pdf
• 41698_2020_Article_109.pdf

View BVdb publication page

---

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Jama Network Open

Karam, Rachid R; Conner, Blair B; LaDuca, Holly H; McGoldrick, Kelly K; Krempely, Kate K; Richardson, Marcy E ME; Zimmermann, Heather H; Gutierrez, Stephanie S; Reineke, Patrick P; Hoang, Lily L; Allen, Kyle K; Yussuf, Amal A; Farber-Katz, Suzette S; Rana, Huma Q HQ; Culver, Samantha S; Lee, John J; Nashed, Sarah S; Toppmeyer, Deborah D; Collins, Debra D; Haynes, Ginger G; Pesaran, Tina T; Dolinsky, Jill S JS; Tippin Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E

Publication Date: 2019-10-02

Variant appearance in text: PALB2: 3350+5G>A

PubMed Link: 31642931

Variant Present in the following documents:

• jamanetwopen-2-e1913900-s001.pdf

View BVdb publication page

---

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.

Journal Of Medical Genetics

Lopez-Perolio, Irene I; Leman, Raphaël R; Behar, Raquel R; Lattimore, Vanessa V; Pearson, John F JF; Castéra, Laurent L; Martins, Alexandra A; Vaur, Dominique D; Goardon, Nicolas N; Davy, Grégoire G; Garre, Pilar P; García-Barberán, Vanesa V; Llovet, Patricia P; Pérez-Segura, Pedro P; Díaz-Rubio, Eduardo E; Caldés, Trinidad T; Hruska, Kathleen S KS; Hsuan, Vickie V; Wu, Sitao S; Pesaran, Tina T; Karam, Rachid R; Vallon-Christersson, Johan J; Borg, Ake A; , ; Valenzuela-Palomo, Alberto A; Velasco, Eladio A EA; Southey, Melissa M; Vreeswijk, Maaike P G MPG; Devilee, Peter P; Kvist, Anders A; Spurdle, Amanda B AB; Walker, Logan C LC; Krieger, Sophie S; de la Hoya, Miguel M

Publication Date: 2019-07

Variant appearance in text: PALB2: 3350+5G>A

PubMed Link: 30890586

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Haematologica

Mori, Minako M; Hira, Asuka A; Yoshida, Kenichi K; Muramatsu, Hideki H; Okuno, Yusuke Y; Shiraishi, Yuichi Y; Anmae, Michiko M; Yasuda, Jun J; Tadaka, Shu S; Kinoshita, Kengo K; Osumi, Tomoo T; Noguchi, Yasushi Y; Adachi, Souichi S; Kobayashi, Ryoji R; Kawabata, Hiroshi H; Imai, Kohsuke K; Morio, Tomohiro T; Tamura, Kazuo K; Takaori-Kondo, Akifumi A; Yamamoto, Masayuki M; Miyano, Satoru S; Kojima, Seiji S; Ito, Etsuro E; Ogawa, Seishi S; Matsuo, Keitaro K; Yabe, Hiromasa H; Yabe, Miharu M; Takata, Minoru M

Publication Date: 2019-10

Variant appearance in text: FANCN: 3350+5G>A

PubMed Link: 30792206

Variant Present in the following documents:

• Main text
• 1041962.pdf

View BVdb publication page

---

Association between homologous recombination repair gene mutations and response to oxaliplatin in pancreatic cancer.

Oncotarget

Kondo, Tomohiro T; Kanai, Masashi M; Kou, Tadayuki T; Sakuma, Tomohiro T; Mochizuki, Hiroaki H; Kamada, Mayumi M; Nakatsui, Masahiko M; Uza, Norimitsu N; Kodama, Yuzo Y; Masui, Toshihiko T; Takaori, Kyoichi K; Matsumoto, Shigemi S; Miyake, Hidehiko H; Okuno, Yasushi Y; Muto, Manabu M

Publication Date: 2018-04-13

Variant appearance in text: rs587782566

PubMed Link: 29731985

Variant Present in the following documents:

• Main text
• oncotarget-09-19817.pdf

View BVdb publication page

---