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: BRCA1: 2125_2126insA; rs80357871

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 2125_2126insA; Phe709fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Communications Biology

Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC

Publication Date: 2022-10-06

Variant appearance in text: BRCA1: 2125_2126insA; Phe709fs

PubMed Link: 36203093

Variant Present in the following documents:

• 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14

View BVdb publication page

---

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer

ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y

Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 2125_2126insA; Phe709Tyrfs

PubMed Link: 35216584

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9181.pdf

View BVdb publication page

---

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.

Genome Medicine

Fierheller, Caitlin T CT; Guitton-Sert, Laure L; Alenezi, Wejdan M WM; Revil, Timothée T; Oros, Kathleen K KK; Gao, Yuandi Y; Bedard, Karine K; Arcand, Suzanna L SL; Serruya, Corinne C; Behl, Supriya S; Meunier, Liliane L; Fleury, Hubert H; Fewings, Eleanor E; Subramanian, Deepak N DN; Nadaf, Javad J; Bruce, Jeffrey P JP; Bell, Rachel R; Provencher, Diane D; Foulkes, William D WD; El Haffaf, Zaki Z; Mes-Masson, Anne-Marie AM; Majewski, Jacek J; Pugh, Trevor J TJ; Tischkowitz, Marc M; James, Paul A PA; Campbell, Ian G IG; Greenwood, Celia M T CMT; Ragoussis, Jiannis J; Masson, Jean-Yves JY; Tonin, Patricia N PN

Publication Date: 2021-12-03

Variant appearance in text: BRCA1: 2125_2126insA; F709Yfs*3

PubMed Link: 34861889

Variant Present in the following documents:

• 13073_2021_998_MOESM3_ESM.pdf

View BVdb publication page

---

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: BRCA1: 2125_2126insA; Phe709Tyrfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco.

Bmc Cancer

Bakkach, Joaira J; Mansouri, Mohamed M; Derkaoui, Touria T; Loudiyi, Ali A; El Fahime, ElMostafa E; Barakat, Amina A; Ghailani Nourouti, Naima N; Martinez De Villarreal, Jaime J; Cortijo Bringas, Carlos C; Bennani Mechita, Mohcine M

Publication Date: 2020-09-07

Variant appearance in text: BRCA1: 2125_2126insA; Phe709Tyrfs

PubMed Link: 32894085

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7352.pdf

View BVdb publication page

---

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls.

Scientific Reports

Behl, Supriya S; Hamel, Nancy N; de Ladurantaye, Manon M; Lepage, Stéphanie S; Lapointe, Réjean R; Mes-Masson, Anne-Marie AM; Foulkes, William D WD

Publication Date: 2020-04-16

Variant appearance in text: BRCA1: 2125_2126insA

PubMed Link: 32300229

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.

Plos Genetics

Wong, Cavin C; Chen, Fei F; Alirezaie, Najmeh N; Wang, Yifan Y; Cuggia, Adeline A; Borgida, Ayelet A; Holter, Spring S; Lenko, Tatiana T; Domecq, Celine C; , ; Petersen, Gloria M GM; Syngal, Sapna S; Brand, Randall R; Rustgi, Anil K AK; Cote, Michele L ML; Stoffel, Elena E; Olson, Sara H SH; Roberts, Nicholas J NJ; Akbari, Mohammad R MR; Majewski, Jacek J; Klein, Alison P AP; Greenwood, Celia M T CMT; Gallinger, Steven S; Zogopoulos, George G

Publication Date: 2019-08

Variant appearance in text: BRCA1: 2125_2126insA; F709fs

PubMed Link: 31469826

Variant Present in the following documents:

• Main text
• pgen.1008344.pdf

View BVdb publication page

---

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

The Lancet. Oncology

Copson, Ellen R ER; Maishman, Tom C TC; Tapper, Will J WJ; Cutress, Ramsey I RI; Greville-Heygate, Stephanie S; Altman, Douglas G DG; Eccles, Bryony B; Gerty, Sue S; Durcan, Lorraine T LT; Jones, Louise L; Evans, D Gareth DG; Thompson, Alastair M AM; Pharoah, Paul P; Easton, Douglas F DF; Dunning, Alison M AM; Hanby, Andrew A; Lakhani, Sunil S; Eeles, Ros R; Gilbert, Fiona J FJ; Hamed, Hisham H; Hodgson, Shirley S; Simmonds, Peter P; Stanton, Louise L; Eccles, Diana M DM

Publication Date: 2018-02

Variant appearance in text: BRCA1: 2125_2126insA; Phe709fs

PubMed Link: 29337092

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA1: 2125_2126insA; Phe709Tyrfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene.

Oncology Letters

Jouali, Farah F; Laarabi, Fatima-Zahra FZ; Marchoudi, Nabila N; Ratbi, Ilham I; Elalaoui, Siham Chafai SC; Rhaissi, Houria H; Fekkak, Jamal J; Sefiani, Abdelaziz A

Publication Date: 2016-08

Variant appearance in text: BRCA1: Phe709TyrfsX3

PubMed Link: 27446417

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.

Journal Of Ovarian Research

Belanger, Moria H MH; Dolman, Lena L; Arcand, Suzanna L SL; Shen, Zhen Z; Chong, George G; Mes-Masson, Anne-Marie AM; Provencher, Diane D; Tonin, Patricia N PN

Publication Date: 2015-03-27

Variant appearance in text: BRCA1: 2125_2126insA

PubMed Link: 25884701

Variant Present in the following documents:

• Main text
• 13048_2015_Article_124.pdf

View BVdb publication page

---

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

European Journal Of Human Genetics : Ejhg

Castéra, Laurent L; Krieger, Sophie S; Rousselin, Antoine A; Legros, Angélina A; Baumann, Jean-Jacques JJ; Bruet, Olivia O; Brault, Baptiste B; Fouillet, Robin R; Goardon, Nicolas N; Letac, Olivier O; Baert-Desurmont, Stéphanie S; Tinat, Julie J; Bera, Odile O; Dugast, Catherine C; Berthet, Pascaline P; Polycarpe, Florence F; Layet, Valérie V; Hardouin, Agnes A; Frébourg, Thierry T; Vaur, Dominique D

Publication Date: 2014-11

Variant appearance in text: BRCA1: 2125_2126insA; Phe709Tyrfs*3

PubMed Link: 24549055

Variant Present in the following documents:

• Main text

View BVdb publication page

---