Research & Literature

Osteoporosis risk and management in BRCA1 and BRCA2 carriers who undergo risk-reducing salpingo-oophorectomy.

Garcia C, Lyon L, Conell C, et al.

Gynecologic oncology 2015; (138(3)):723-6.

Inflammatory Breast Carcinoma Presenting with Two Different Patterns of Cutaneous Metastases: Carcinoma Telangiectaticum and Carcinoma Erysipeloides.

Yaghoobi R, Talaizade A, Lal K, et al.

The Journal of clinical and aesthetic dermatology 2015; (8(8)):47-51.

[Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report].

Puchmajerová A, Švojgr K, Novotná D, et al.

Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2016; (29 Suppl 1()):S89-92 doi:10.14735/amko2016s89.

A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development.

Byrd PJ, Stewart GS, Smith A, et al.

PLoS genetics 2016; (12(3)):e1005945 doi:10.1371/journal.pgen.1005945.

How I treat MDS and AML in Fanconi anemia.

Peffault de Latour R, Soulier J

Blood 2016; (127(24)):2971-9 doi:10.1182/blood-2016-01-583625.

Impact of risk-reducing salpingo-oophorectomy in premenopausal women.

Vermeulen RFM, Beurden MV, Korse CM, Kenter GG

Climacteric : the journal of the International Menopause Society 2017; (20(3)):212-221 doi:10.1080/13697137.2017.1285879.

Committee Opinion No. 716: The Role of the Obstetrician-Gynecologist in the Early Detection of Epithelial Ovarian Cancer in Women at Average Risk.

Obstetrics and gynecology 2017; (130(3)):e146-e149 doi:10.1097/AOG.0000000000002299.

Screening for Ovarian Cancer: US Preventive Services Task Force Recommendation Statement.

, Grossman DC, Curry SJ, et al.

JAMA 2018; (319(6)):588-594 doi:10.1001/jama.2017.21926.

Ovarian Cancer Prevention and Screening.

Menon U, Karpinskyj C, Gentry-Maharaj A

Obstetrics and gynecology 2018; (131(5)):909-927 doi:10.1097/AOG.0000000000002580.

Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers.

Mor P, Brennenstuhl S, Metcalfe KA

Journal of genetic counseling 2018; (27(6)):1386-1394 doi:10.1007/s10897-018-0264-2.

Antiparallel Coiled-Coil Interactions Mediate the Homodimerization of the DNA Damage-Repair Protein PALB2.

Song F, Li M, Liu G, et al.

Biochemistry 2018; (57(47)):6581-6591 doi:10.1021/acs.biochem.8b00789.

Hormone replacement therapy after risk reducing salpingo-oophorectomy in patients with BRCA1 or BRCA2 mutations; a systematic review of risks and benefits.

Gordhandas S, Norquist BM, Pennington KP, et al.

Gynecologic oncology 2019; (153(1)):192-200 doi:10.1016/j.ygyno.2018.12.014.

When a metastatic breast cancer is mimicking a pancreatic cancer: case report and review of the literature.

Derouane F, Yombi JC, Baurain JF, et al.

Acta clinica Belgica 2020; (75(4)):301-307 doi:10.1080/17843286.2019.1607990.

Genotype-phenotype associations in Fanconi anemia: A literature review.

Fiesco-Roa MO, Giri N, McReynolds LJ, et al.

Blood reviews 2019; (37()):100589 doi:10.1016/j.blre.2019.100589.

PALB2 (partner and localizer of BRCA2).

Hanenberg H, Andreassen PR

Atlas of genetics and cytogenetics in oncology and haematology 2018; (22(12)):484-490 doi:10.4267/2042/69016.

Homologous recombination DNA repair defects in PALB2-associated breast cancers.

Li A, Geyer FC, Blecua P, et al.

NPJ breast cancer 2019; (5()):23 doi:10.1038/s41523-019-0115-9.

Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.

Goggins M, Overbeek KA, Brand R, et al.

Gut 2020; (69(1)):7-17 doi:10.1136/gutjnl-2019-319352.

Pancreatic Cancer Surveillance: Who, When, and How.

Dudley B, Brand RE

Current treatment options in gastroenterology 2019; (17(4)):681-691 doi:10.1007/s11938-019-00247-0.

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

Yang X, Leslie G, Doroszuk A, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020; (38(7)):674-685 doi:10.1200/JCO.19.01907.

Radiographic Surveillance of Patients with Non-BRCA1/2 Pathogenic Variants.

Hudson L, Gower N, Lenarcic S, et al.

Annals of surgical oncology 2020; (27(7)):2248-2254 doi:10.1245/s10434-019-08191-0.

Randomized, Multicenter, Phase II Trial of Gemcitabine and Cisplatin With or Without Veliparib in Patients With Pancreas Adenocarcinoma and a Germline BRCA/PALB2 Mutation.

O'Reilly EM, Lee JW, Zalupski M, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020; (38(13)):1378-1388 doi:10.1200/JCO.19.02931.

AGA Clinical Practice Update on Pancreas Cancer Screening in High-Risk Individuals: Expert Review.

Aslanian HR, Lee JH, Canto MI

Gastroenterology 2020; (159(1)):358-362 doi:10.1053/j.gastro.2020.03.088.

ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders.

, Carvalho F, Moutou C, et al.

Human reproduction open 2020; (2020(3)):hoaa018 doi:10.1093/hropen/hoaa018.

A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.

Zhong Y, Schubert J, Wu J, et al.

Cold Spring Harbor molecular case studies 2020; (6(4)) doi:10.1101/mcs.a005397.

TBCRC 048: Phase II Study of Olaparib for Metastatic Breast Cancer and Mutations in Homologous Recombination-Related Genes.

Tung NM, Robson ME, Ventz S, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020; (38(36)):4274-4282 doi:10.1200/JCO.20.02151.

Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

Shi M, Liauw AL, Tong S, et al.

Genes 2021; (12(4)) doi:10.3390/genes12040496.

A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation.

Brnich SE, Arteaga EC, Wang Y, et al.

The Journal of molecular diagnostics : JMD 2021; (23(7)):847-864 doi:10.1016/j.jmoldx.2021.04.010.

Phase II Study of Maintenance Rucaparib in Patients With Platinum-Sensitive Advanced Pancreatic Cancer and a Pathogenic Germline or Somatic Variant in BRCA1, BRCA2, or PALB2.

Reiss KA, Mick R, O'Hara MH, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021; (39(22)):2497-2505 doi:10.1200/JCO.21.00003.

Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Tischkowitz M, Balmaña J, Foulkes WD, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(8)):1416-1423 doi:10.1038/s41436-021-01151-8.

Clinically Malignant Breast Lesion in an Adolescent Girl: A Case Report.

Sosnowska-Sienkiewicz P, Mańkowski P

Clinics and practice 2021; (11(3)):435-440 doi:10.3390/clinpract11030058.

Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.

Liu YL, Breen K, Catchings A, et al.

JCO oncology practice 2022; (18(3)):201-209 doi:10.1200/OP.21.00382.

Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).

McReynolds LJ, Biswas K, Giri N, et al.

Cancer genetics 2021; (258-259()):101-109 doi:10.1016/j.cancergen.2021.10.001.

Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review.

Vriesen N, Carmany EP, Natoli JL

Prenatal diagnosis 2022; (42(2)):201-211 doi:10.1002/pd.6084.

Family Adjustment to Hereditary Cancer Syndromes: A Systematic Review.

Gomes P, Pietrabissa G, Silva ER, et al.

International journal of environmental research and public health 2022; (19(3)) doi:10.3390/ijerph19031603.

Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.

Lowry KP, Geuzinge HA, Stout NK, et al.

JAMA oncology 2022; (8(4)):587-596 doi:10.1001/jamaoncol.2021.6204.

Risk of Peritoneal Carcinomatosis After Risk-Reducing Salpingo-Oophorectomy: A Systematic Review and Individual Patient Data Meta-Analysis.

Steenbeek MP, van Bommel MHD, Bulten J, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022; (40(17)):1879-1891 doi:10.1200/JCO.21.02016.

Use of preimplantation genetic testing for monogenic disorders and subsequent prenatal care and diagnostic testing.

Bunnell ME, Dobson LJ, Lanes A, Ginsburg ES

Prenatal diagnosis 2022; (42(8)):1022-1030 doi:10.1002/pd.6189.

Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.

Mekonnen N, Yang H, Shin YK

Frontiers in oncology 2022; (12()):880643 doi:10.3389/fonc.2022.880643.

BRCA1-Dependent and Independent Recruitment of PALB2-BRCA2-RAD51 in the DNA Damage Response and Cancer.

Foo TK, Xia B

Cancer research 2022; (82(18)):3191-3197 doi:10.1158/0008-5472.CAN-22-1535.

A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes.

Gruber JJ, Afghahi A, Timms K, et al.

Nature cancer 2022; (3(10)):1181-1191 doi:10.1038/s43018-022-00439-1.

Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy.

Terra L, Beekman MJ, Engelhardt EG, et al.

American journal of obstetrics and gynecology 2023; (228(4)):440.e1-440.e20 doi:10.1016/j.ajog.2022.11.1289.

Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.

Yadav S, Boddicker NJ, Na J, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2023; (41(9)):1703-1713 doi:10.1200/JCO.22.01239.

Assessing Psychological Morbidity in Cancer-Unaffected BRCA1/2 Pathogenic Variant Carriers: A Systematic Review.

Isselhard A, Lautz Z, Rhiem K, Stock S

Current oncology (Toronto, Ont.) 2023; (30(4)):3590-3608 doi:10.3390/curroncol30040274.

Changes in Bone Density in Carriers of BRCA1 and BRCA2 Pathogenic Variants After Salpingo-Oophorectomy.

Chan LN, Chen LM, Goldman M, et al.

Obstetrics and gynecology 2023; (142(1)):160-169 doi:10.1097/AOG.0000000000005236.

Factors that differentiate cancer risk management decisions among females with pathogenic/likely pathogenic variants in PALB2, CHEK2, and ATM.

Dean M, Tezak AL, Johnson S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(11)):100945 doi:10.1016/j.gim.2023.100945.

Partner and localizer of BRCA2 (PALB2) pathogenic variants and ovarian cancer: A systematic review and meta-analysis.

Narayan P, Ahsan MD, Webster EM, et al.

Gynecologic oncology 2023; (177()):72-85 doi:10.1016/j.ygyno.2023.07.017.

Surgical Decision Making in Genetically High-Risk Women: Quantifying Postoperative Complications and Long-Term Risks of Supplemental Surgery After Risk-Reducing Mastectomy.

Apostolova C, Ferroum A, Alhassan B, et al.

Annals of surgical oncology 2024; (31(1)):356-364 doi:10.1245/s10434-023-14418-y.

NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.

Daly MB, Pal T, Maxwell KN, et al.

Journal of the National Comprehensive Cancer Network : JNCCN 2023; (21(10)):1000-1010 doi:10.6004/jnccn.2023.0051.

OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing.

Hornak M, Bezdekova K, Kubicek D, et al.

Journal of assisted reproduction and genetics 2024; (41(1)):185-192 doi:10.1007/s10815-023-02998-3.

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M).

Parikh F, Athalye A, Madon P, et al.

Frontiers in reproductive health 2023; (5()):1213546 doi:10.3389/frph.2023.1213546.

Counselling Framework for Germline BRCA1/2 and PALB2 Carriers Considering Risk-Reducing Mastectomy.

Wong SM, Apostolova C, Eisenberg E, Foulkes WD

Current oncology (Toronto, Ont.) 2024; (31(1)):350-365 doi:10.3390/curroncol31010023.

The psychological impact of genetic testing in childhood cancer: A systematic review.

Van Hoyweghen S, Bm Claes K, de Putter R, et al.

Psycho-oncology 2024; (33(1)):e6279 doi:10.1002/pon.6279.

Risk-reducing surgery in PALB2 mutations carriers with breast cancer: a case series and literature review.

Masanam MK, Pitcher CW, Sogunro O, et al.

Translational breast cancer research : a journal focusing on translational research in breast cancer 2022; (3()):37 doi:10.21037/tbcr-22-33.

Outcomes of hematopoietic stem cell transplantation in 813 pediatric patients with Fanconi anemia.

Lum SH, Eikema DJ, Piepenbroek B, et al.

Blood 2024; (144(12)):1329-1342 doi:10.1182/blood.2023022751.

What happens after menopause? (WHAM): A prospective controlled study of vasomotor symptoms and menopause-related quality of life 24 months after premenopausal risk-reducing salpingo-oophorectomy (RRSO).

Hickey M, Trainer AH, Krejany EO, et al.

Gynecologic oncology 2024; (191()):201-211 doi:10.1016/j.ygyno.2024.10.007.

Society of Surgical Oncology Breast Disease Site Working Group Statement on Bilateral Risk-Reducing Mastectomy: Indications, Outcomes, and Risks.

Singh P, Agnese DM, Amin M, et al.

Annals of surgical oncology 2025; (32(2)):899-911 doi:10.1245/s10434-024-16484-2.

Nationwide, Couple-Based Genetic Carrier Screening.

Kirk EP, Delatycki MB, Archibald AD, et al.

The New England journal of medicine 2024; (391(20)):1877-1889 doi:10.1056/NEJMoa2314768.

Coronary Artery Calcium Scores After Prophylactic Premenopausal Bilateral Salpingo-Oophorectomy.

Beekman MJ, Terra L, Heemskerk-Gerritsen BAM, et al.

JACC. CardioOncology 2024; (6(6)):922-931 doi:10.1016/j.jaccao.2024.09.011.

What Happens After Menopause (WHAM)? A Progress Report of a Prospective Controlled Study of Women After Pre-Menopausal Risk-Reducing Bilateral Salpingo-Oophorectomy.

Price SAL, Maki PM, El Khoudary SR, et al.

BJOG : an international journal of obstetrics and gynaecology 2025; doi:10.1111/1471-0528.18304.

Hematopoietic Stem Cell Transplant in Adult Patients with Fanconi Anemia: A Review.

Rockwell B, Ramamurthy P, Verceles JA, et al.

Diseases (Basel, Switzerland) 2025; (13(7)) doi:10.3390/diseases13070195.

Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.

Bilotta A, Lo Feudo E, Rocca V, et al.

Genes 2025; (16(7)) doi:10.3390/genes16070795.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.

Richardson ME, Bishop MFH, Holdren MA, et al.

American journal of human genetics 2025; (112(10)):2266-2280 doi:10.1016/j.ajhg.2025.08.020.

Mutagenesis of the PALB2 WD40 domain identifies variants defective in interaction with BRCA2 and DNA repair.

Gomes TT, Elias ABR, Huang H, et al.

The Journal of biological chemistry 2025; (301(12)):110835 doi:10.1016/j.jbc.2025.110835.

Risk-Based vs Annual Breast Cancer Screening: The WISDOM Randomized Clinical Trial.

Esserman LJ, Fiscalini AS, Naeim A, et al.

JAMA 2026; (335(9)):763-774 doi:10.1001/jama.2025.24784.

Sexual Function, Activity and Distress 24 Months After Surgical Menopause: What Happens After Menopause (WHAM)-A Prospective Controlled Study.

Hickey M, Tejada-Berges T, Domchek SM, et al.

BJOG : an international journal of obstetrics and gynaecology 2026; (133(6)):1188-1199 doi:10.1111/1471-0528.70158.

Risk-Reducing Mastectomy in BRCA1/2 and Other High-Risk Gene Carriers: Current Evidence and Practical Guidance.

Lee JH, Ryu JM, Park JS, et al.

Journal of breast cancer 2026; (29(1)):1-16 doi:10.4048/jbc.2025.0279.

Quality of life, anxiety and cancer worry following hereditary cancer testing: a 6-month Swedish follow-up study.

Heyman Y, Röjlar H, Hawranek C, et al.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2026; (35(3)):70.

Genomic ascertainment of PALB2-related cancer predisposition: PALB2-related cancer predisposition.

Stewart DR, Kim J, Haley JS, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.04.03.26349984.

Impact of Population-Based Pathogenic Variant Testing on Risk-Based Breast Screening Recommendations: A Secondary Analysis of the WISDOM Study.

Shieh Y, Heise RS, Madlensky L, et al.

JAMA oncology 2026; (12(8)):875-880 doi:10.1001/jamaoncol.2026.2091.

Understanding risk perception and risk-reducing decision-making for surgery among individuals with a genetic predisposition to epithelial ovarian cancer.

Kukurudz-Gorowski R, Horn S, Lambert P, et al.

Journal of genetic counseling 2026; (35(4)):e70225 doi:10.1002/jgc4.70225.

Outcomes of pancreatic cancer surveillance among high-risk individuals at a tertiary care academic center.

Lee AA, Twoy A, Siddappa P, et al.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2026; (26(5)):719-723 doi:10.1016/j.pan.2026.06.006.

Psychological Impact of BRCA Genetic Testing: Analysis of Positive and Negative Affect Changes according to Test Results.

Jung G, Hur SY, Wang SM, Choi YJ

Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology 2026; (24(3)):589-596 doi:10.9758/cpn.25.1383.

A Heterogeneous Phenotypic Presentation of a PALB2 Mutation Carrier With Multiple Metachronous Primary Malignancies: A Case Report.

Julakanti P, Spitz VH, Runko G, Ziton L

Cureus 2026; (18(8)):e115554 doi:10.7759/cureus.115554.